#Uploaded_variation Location Allele Consequence IMPACT SYMBOL

Gene Feature_type Feature BIOTYPE EXON INTRON HGVSc HGVSp

cDNA_position CDS_position Protein_position Amino_acids Codons
Existing_variation DISTANCE STRAND FLAGS SYMBOL_SOURCE
HGNC_ID MANE_SELECT MANE_PLUS_CLINICAL TSL APPRIS SIFT
PolyPhen AF CLIN_SIG SOMATIC PHENO PUBMED MOTIF_NAME
MOTIF_POS HIGH_INF_POS MOTIF_SCORE_CHANGE TRANSCRIPTION_FACTORS
151261626 1:151261626-151261626 G downstream_gene_variant MODIFIER PI4KB
ENSG00000143393 Transcript ENST00000271657.5 protein_coding - -
- - - - - - - rs751315734 2787 -1 - HGNC
8984 - - - - - - - - - - - -
- - - -
151261626 1:151261626-151261626 G missense_variant MODERATE ZNF687
ENSG00000143373 Transcript ENST00000324048.5 protein_coding 5/10 -
- - 3320 2350 784 Q/E Cag/Gag rs751315734 - 1 -
HGNC 29277 - - - - deleterious(0) benign(0.243) -
- - - - - - - - -
151261626 1:151261626-151261626 G missense_variant MODERATE ZNF687
ENSG00000143373 Transcript ENST00000336715.6 protein_coding 4/9 -
- - 2496 2350 784 Q/E Cag/Gag rs751315734 - 1 -
HGNC 29277 - - - - deleterious(0) benign(0.243) -
- - - - - - - - -
151261626 1:151261626-151261626 G downstream_gene_variant MODIFIER PI4KB
ENSG00000143393 Transcript ENST00000368872.1 protein_coding - -
- - - - - - - rs751315734 3329 -1 - HGNC
8984 - - - - - - - - - - - -
- - - -
151261626 1:151261626-151261626 G downstream_gene_variant MODIFIER PI4KB
ENSG00000143393 Transcript ENST00000368873.1 protein_coding - -
- - - - - - - rs751315734 2982 -1 - HGNC
8984 - - - - - - - - - - - -
- - - -
151261626 1:151261626-151261626 G downstream_gene_variant MODIFIER PI4KB
ENSG00000143393 Transcript ENST00000368874.4 protein_coding - -
- - - - - - - rs751315734 2647 -1 - HGNC
8984 - - - - - - - - - - - -
- - - -
151261626 1:151261626-151261626 G downstream_gene_variant MODIFIER PI4KB
ENSG00000143393 Transcript ENST00000368875.2 protein_coding - -
- - - - - - - rs751315734 2787 -1 - HGNC
8984 - - - - - - - - - - - -
- - - -
151261626 1:151261626-151261626 G missense_variant MODERATE ZNF687
ENSG00000143373 Transcript ENST00000368879.2 protein_coding 4/9 -
- - 2448 2350 784 Q/E Cag/Gag rs751315734 - 1 -
HGNC 29277 - - - - deleterious(0) probably_damaging(0.984)
- - - - - - - - - -
151261626 1:151261626-151261626 G missense_variant MODERATE ZNF687
ENSG00000143373 Transcript ENST00000426871.1 protein_coding 3/8 -
- - 1158 1159 387 Q/E Cag/Gag rs751315734 - 1
cds_start_NF HGNC 29277 - - - - deleterious(0)
probably_damaging(0.995) - - - - - - - -
- -
151261626 1:151261626-151261626 G upstream_gene_variant MODIFIER ZNF687
ENSG00000143373 Transcript ENST00000436614.1 protein_coding - -
- - - - - - - rs751315734 1301 1 cds_start_NF
HGNC 29277 - - - - - - - - - - -
- - - - -
151261626 1:151261626-151261626 G downstream_gene_variant MODIFIER ZNF687
 ENSG00000143373 Transcript ENST00000443959.1 protein_coding - -
- - - - - - - rs751315734 2445 1 cds_end_NF
HGNC 29277 - - - - - - - - - - -
- - - - -
151261626 1:151261626-151261626 G downstream_gene_variant MODIFIER PI4KB
ENSG00000143393 Transcript ENST00000446339.1 protein_coding - -
- - - - - - - rs751315734 3473 -1 cds_start_NF
HGNC 8984 - - - - - - - - - - -
- - - - -
151261626 1:151261626-151261626 G intron_variant,NMD_transcript_variant
MODIFIER ZNF687 ENSG00000143373 Transcript ENST00000449313.1
nonsense_mediated_decay - 3/6 - - - - - - -
rs751315734 - 1 - HGNC 29277 - - - - - -
- - - - - - - - - -
151261626 1:151261626-151261626 G downstream_gene_variant MODIFIER PI4KB
ENSG00000143393 Transcript ENST00000455060.1 protein_coding - -
- - - - - - - rs751315734 3452 -1 cds_start_NF
HGNC 8984 - - - - - - - - - - -
- - - - -
151261626 1:151261626-151261626 G non_coding_transcript_exon_variant
MODIFIER ZNF687 ENSG00000143373 Transcript ENST00000459919.1
retained_intron 3/3 - - - 451 - - - -
rs751315734 - 1 - HGNC 29277 - - - - - -
- - - - - - - - - -
151261626 1:151261626-151261626 G downstream_gene_variant MODIFIER PI4KB
ENSG00000143393 Transcript ENST00000489889.2 protein_coding - -
- - - - - - - rs751315734 4469 -1 cds_start_NF
HGNC 8984 - - - - - - - - - - -
- - - - -
151261626 1:151261626-151261626 G downstream_gene_variant MODIFIER PI4KB
ENSG00000143393 Transcript ENST00000529142.1 protein_coding - -
- - - - - - - rs751315734 2983 -1 - HGNC
8984 - - - - - - - - - - - -
- - - -
151378722 1:151378722-151378722 C missense_variant MODERATE POGZ
ENSG00000143442 Transcript ENST00000271715.2 protein_coding 19/19 -
- - 3104 2789 930 P/R cCa/cGa rs145570114 - -1 -
HGNC 18801 - - - - tolerated(0.13) benign(0) 0.0024
benign,likely_benign - 1 - - - - - -
151378722 1:151378722-151378722 C downstream_gene_variant MODIFIER PSMB4
ENSG00000159377 Transcript ENST00000290541.6 protein_coding - -
- - - - - - - rs145570114 4302 1 - HGNC
9541 - - - - - - 0.0024 benign,likely_benign
- 1 - - - - - -
151378722 1:151378722-151378722 C non_coding_transcript_exon_variant
MODIFIER POGZ ENSG00000143442 Transcript ENST00000358476.3
retained_intron 17/17 - - - 2937 - - - -
rs145570114 - -1 - HGNC 18801 - - - - - -
0.0024 benign,likely_benign - 1 - - - - -
-
151378722 1:151378722-151378722 C missense_variant MODERATE POGZ
ENSG00000143442 Transcript ENST00000361398.3 protein_coding 18/18 -
- - 2936 2630 877 P/R cCa/cGa rs145570114 - -1 -
HGNC 18801 - - - - tolerated(0.1) benign(0.003) 0.0024
benign,likely_benign - 1 - - - - - -
151378722 1:151378722-151378722 C missense_variant MODERATE POGZ
ENSG00000143442 Transcript ENST00000368863.2 protein_coding 17/17 -
- - 2533 2504 835 P/R cCa/cGa rs145570114 - -1 -
HGNC 18801 - - - - tolerated(0.22) benign(0.001) 0.0024
 benign,likely_benign - 1 - - - - - -
151378722 1:151378722-151378722 C missense_variant MODERATE POGZ
ENSG00000143442 Transcript ENST00000392723.1 protein_coding 17/17 -
- - 2630 2630 877 P/R cCa/cGa rs145570114 - -1 -
HGNC 18801 - - - - tolerated(0.1) benign(0.003) 0.0024
benign,likely_benign - 1 - - - - - -
151378722 1:151378722-151378722 C missense_variant MODERATE POGZ
ENSG00000143442 Transcript ENST00000409503.1 protein_coding 19/19 -
- - 2791 2762 921 P/R cCa/cGa rs145570114 - -1 -
HGNC 18801 - - - - tolerated(0.12) benign(0.248) 0.0024
benign,likely_benign - 1 - - - - - -
151378722 1:151378722-151378722 C downstream_gene_variant MODIFIER PSMB4
ENSG00000159377 Transcript ENST00000466425.1 retained_intron - -
- - - - - - - rs145570114 4309 1 - HGNC
9541 - - - - - - 0.0024 benign,likely_benign
- 1 - - - - - -
151378722 1:151378722-151378722 C downstream_gene_variant MODIFIER PSMB4
ENSG00000159377 Transcript ENST00000474100.1 retained_intron - -
- - - - - - - rs145570114 4310 1 - HGNC
9541 - - - - - - 0.0024 benign,likely_benign
- 1 - - - - - -
151378722 1:151378722-151378722 C downstream_gene_variant MODIFIER PSMB4
ENSG00000159377 Transcript ENST00000476467.1 retained_intron - -
- - - - - - - rs145570114 4340 1 - HGNC
9541 - - - - - - 0.0024 benign,likely_benign
- 1 - - - - - -
151378722 1:151378722-151378722 C missense_variant MODERATE POGZ
ENSG00000143442 Transcript ENST00000491586.1 protein_coding 18/18 -
- - 2686 2657 886 P/R cCa/cGa rs145570114 - -1 -
HGNC 18801 - - - - deleterious(0.03) benign(0.003) 0.0024
benign,likely_benign - 1 - - - - - -
151378722 1:151378722-151378722 C downstream_gene_variant MODIFIER POGZ
ENSG00000143442 Transcript ENST00000492528.1 retained_intron - -
- - - - - - - rs145570114 992 -1 - HGNC
18801 - - - - - - 0.0024 benign,likely_benign
- 1 - - - - - -
151378722 1:151378722-151378722 C downstream_gene_variant MODIFIER PSMB4
ENSG00000159377 Transcript ENST00000493673.1 retained_intron - -
- - - - - - - rs145570114 4312 1 - HGNC
9541 - - - - - - 0.0024 benign,likely_benign
- 1 - - - - - -
151378722 1:151378722-151378722 C downstream_gene_variant MODIFIER POGZ
ENSG00000143442 Transcript ENST00000497787.1 retained_intron - -
- - - - - - - rs145570114 653 -1 - HGNC
18801 - - - - - - 0.0024 benign,likely_benign
- 1 - - - - - -
151378722 1:151378722-151378722 C downstream_gene_variant MODIFIER POGZ
ENSG00000143442 Transcript ENST00000529669.1 protein_coding - -
- - - - - - - rs145570114 40 -1
cds_start_NF,cds_end_NF HGNC 18801 - - - - - - 0.0024
benign,likely_benign - 1 - - - - - -
151378722 1:151378722-151378722 C missense_variant MODERATE POGZ
ENSG00000143442 Transcript ENST00000531094.1 protein_coding 18/18 -
- - 2668 2603 868 P/R cCa/cGa rs145570114 - -1 -
HGNC 18801 - - - - tolerated(0.11) benign(0) 0.0024
benign,likely_benign - 1 - - - - - -
151378722 1:151378722-151378722 C missense_variant MODERATE POGZ
ENSG00000143442 Transcript ENST00000540984.1 protein_coding 13/13 -
- - 1603 875 292 P/R cCa/cGa rs145570114 - -1 -
 HGNC 18801 - - - - deleterious(0.04) benign(0) 0.0024
benign,likely_benign - 1 - - - - - -
154991066 1:154991066-154991066 G downstream_gene_variant MODIFIER ZBTB7B
ENSG00000160685 Transcript ENST00000292176.2 protein_coding - -
- - - - - - - rs201399069 1609 1 - HGNC
18668 - - - - - - 0.0006 - - - -
- - - - -
154991066 1:154991066-154991066 G downstream_gene_variant MODIFIER DCST2
ENSG00000163354 Transcript ENST00000295536.5 protein_coding - -
- - - - - - - rs201399069 4981 -1 - HGNC
26562 - - - - - - 0.0006 - - - -
- - - - -
154991066 1:154991066-154991066 G non_coding_transcript_exon_variant
MODIFIER DCST2 ENSG00000163354 Transcript ENST00000368423.1
retained_intron 10/10 - - - 2028 - - - -
rs201399069 - -1 - HGNC 26562 - - - - - -
0.0006 - - - - - - - - -
154991066 1:154991066-154991066 G missense_variant MODERATE DCST2
ENSG00000163354 Transcript ENST00000368424.3 protein_coding 15/15 -
- - 2335 2276 759 L/P cTc/cCc rs201399069 - -1 -
HGNC 26562 - - - - tolerated_low_confidence(0.21)
benign(0.165) 0.0006 - - - - - - - -
-
154991066 1:154991066-154991066 G downstream_gene_variant MODIFIER ZBTB7B
ENSG00000160685 Transcript ENST00000368426.3 protein_coding - -
- - - - - - - rs201399069 68 1 - HGNC
18668 - - - - - - 0.0006 - - - -
- - - - -
154991066 1:154991066-154991066 G downstream_gene_variant MODIFIER ZBTB7B
ENSG00000160685 Transcript ENST00000417934.2 protein_coding - -
- - - - - - - rs201399069 1659 1 - HGNC
18668 - - - - - - 0.0006 - - - -
- - - - -
154991066 1:154991066-154991066 G downstream_gene_variant MODIFIER ZBTB7B
ENSG00000160685 Transcript ENST00000461530.1 processed_transcript -
- - - - - - - - rs201399069 3622 1 -
HGNC 18668 - - - - - - 0.0006 - - -
- - - - - -
154991066 1:154991066-154991066 G
3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCST2
ENSG00000163354 Transcript ENST00000467991.2 nonsense_mediated_decay 5/5
- - - 580 - - - - rs201399069 - -1
cds_start_NF HGNC 26562 - - - - - - 0.0006
- - - - - - - - -
154991066 1:154991066-154991066 G downstream_gene_variant MODIFIER ZBTB7B
ENSG00000160685 Transcript ENST00000483226.1 processed_transcript -
- - - - - - - - rs201399069 3871 1 -
HGNC 18668 - - - - - - 0.0006 - - -
- - - - - -
154991066 1:154991066-154991066 G
3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCST2
ENSG00000163354 Transcript ENST00000485982.1 nonsense_mediated_decay 16/16
- - - 2424 - - - - rs201399069 - -1 -
HGNC 26562 - - - - - - 0.0006 - - -
- - - - - -
154991066 1:154991066-154991066 G downstream_gene_variant MODIFIER ZBTB7B
ENSG00000160685 Transcript ENST00000487542.1 processed_transcript -
- - - - - - - - rs201399069 3281 1 -
HGNC 18668 - - - - - - 0.0006 - - -
 - - - - - -
154991066 1:154991066-154991066 G downstream_gene_variant MODIFIER DCST2
ENSG00000163354 Transcript ENST00000498036.1 retained_intron - -
- - - - - - - rs201399069 4795 -1 - HGNC
26562 - - - - - - 0.0006 - - - -
- - - - -
154991066 1:154991066-154991066 G downstream_gene_variant MODIFIER ZBTB7B
ENSG00000160685 Transcript ENST00000535420.1 protein_coding - -
- - - - - - - rs201399069 1822 1 - HGNC
18668 - - - - - - 0.0006 - - - -
- - - - -
156035717 1:156035717-156035717 G missense_variant MODERATE RAB25
ENSG00000132698 Transcript ENST00000361084.5 protein_coding 2/5 -
- - 300 59 20 E/G gAa/gGa rs61751627,CM1515239 -
1 - HGNC 18238 - - - - deleterious_low_confidence(0)
probably_damaging(0.997) 0.0036 - - 0,1 - - -
- - -
156035717 1:156035717-156035717 G non_coding_transcript_exon_variant
MODIFIER RAB25 ENSG00000132698 Transcript ENST00000463614.1
processed_transcript 2/2 - - - 271 - - - -
rs61751627,CM1515239 - 1 - HGNC 18238 - - - -
- - 0.0036 - - 0,1 - - - - - -
156035717 1:156035717-156035717 G
intron_variant,non_coding_transcript_variant MODIFIER RAB25
ENSG00000132698 Transcript ENST00000473336.1 processed_transcript -
1/3 - - - - - - - rs61751627,CM1515239 -
1 - HGNC 18238 - - - - - - 0.0036 -
- 0,1 - - - - - -
156035717 1:156035717-156035717 G
intron_variant,non_coding_transcript_variant MODIFIER RAB25
ENSG00000132698 Transcript ENST00000487325.1 processed_transcript -
1/2 - - - - - - - rs61751627,CM1515239 -
1 - HGNC 18238 - - - - - - 0.0036 -
- 0,1 - - - - - -
156035717 1:156035717-156035717 G upstream_gene_variant MODIFIER RAB25
ENSG00000132698 Transcript ENST00000497968.1 processed_transcript -
- - - - - - - - rs61751627,CM1515239 2286
1 - HGNC 18238 - - - - - - 0.0036 -
- 0,1 - - - - - -
156035717 1:156035717-156035717 G regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00000254630 CTCF_binding_site - -
- - - - - - - rs61751627,CM1515239 - -
- - - - - - - - - 0.0036 - -
0,1 - - - - - -
156035717 1:156035717-156035717 G regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00000947274 promoter_flanking_region
- - - - - - - - - rs61751627,CM1515239
- - - - - - - - - - - 0.0036
- - 0,1 - - - - - -
169698643 1:169698643-169698643 G missense_variant MODERATE SELE
ENSG00000007908 Transcript ENST00000333360.7 protein_coding 6/14 -
- - 1027 887 296 K/T aAg/aCg rs41272475 - -1 -
HGNC 10718 - - - - tolerated(0.19) benign(0.175) 0.0012
likely_benign - 1 - - - - - -
169698643 1:169698643-169698643 G missense_variant MODERATE SELE
ENSG00000007908 Transcript ENST00000367774.1 protein_coding 5/10 -
- - 935 887 296 K/T aAg/aCg rs41272475 - -1 -
HGNC 10718 - - - - tolerated(0.32) benign(0.093) 0.0012
likely_benign - 1 - - - - - -
169698643 1:169698643-169698643 G missense_variant MODERATE SELE
ENSG00000007908 Transcript ENST00000367775.1 protein_coding 4/11 -
- - 748 701 234 K/T aAg/aCg rs41272475 - -1 -
HGNC 10718 - - - - tolerated(0.64) benign(0.007) 0.0012
likely_benign - 1 - - - - - -
169698643 1:169698643-169698643 G missense_variant MODERATE SELE
ENSG00000007908 Transcript ENST00000367776.1 protein_coding 5/12 -
- - 935 887 296 K/T aAg/aCg rs41272475 - -1 -
HGNC 10718 - - - - tolerated(0.19) benign(0.156) 0.0012
likely_benign - 1 - - - - - -
169698643 1:169698643-169698643 G missense_variant MODERATE SELE
ENSG00000007908 Transcript ENST00000367777.1 protein_coding 5/12 -
- - 935 887 296 K/T aAg/aCg rs41272475 - -1 -
HGNC 10718 - - - - tolerated(0.19) benign(0.094) 0.0012
likely_benign - 1 - - - - - -
169698643 1:169698643-169698643 G missense_variant MODERATE SELE
ENSG00000007908 Transcript ENST00000367779.4 protein_coding 6/12 -
- - 1044 887 296 K/T aAg/aCg rs41272475 - -1 -
HGNC 10718 - - - - tolerated(0.32) benign(0.093) 0.0012
likely_benign - 1 - - - - - -
169698643 1:169698643-169698643 G missense_variant MODERATE SELE
ENSG00000007908 Transcript ENST00000367780.4 protein_coding 5/12 -
- - 858 701 234 K/T aAg/aCg rs41272475 - -1 -
HGNC 10718 - - - - tolerated(0.64) benign(0.007) 0.0012
likely_benign - 1 - - - - - -
169698643 1:169698643-169698643 G missense_variant MODERATE SELE
ENSG00000007908 Transcript ENST00000367781.4 protein_coding 6/13 -
- - 1044 887 296 K/T aAg/aCg rs41272475 - -1 -
HGNC 10718 - - - - tolerated(0.19) benign(0.156) 0.0012
likely_benign - 1 - - - - - -
169698643 1:169698643-169698643 G missense_variant MODERATE SELE
ENSG00000007908 Transcript ENST00000367782.4 protein_coding 6/13 -
- - 1044 887 296 K/T aAg/aCg rs41272475 - -1 -
HGNC 10718 - - - - tolerated(0.19) benign(0.094) 0.0012
likely_benign - 1 - - - - - -
169698643 1:169698643-169698643 G downstream_gene_variant MODIFIER SELE
ENSG00000007908 Transcript ENST00000461085.1 retained_intron - -
- - - - - - - rs41272475 1989 -1 - HGNC
10718 - - - - - - 0.0012 likely_benign -
1 - - - - - -
169698643 1:169698643-169698643 G
intron_variant,non_coding_transcript_variant MODIFIER C1orf112
ENSG00000000460 Transcript ENST00000498289.1 processed_transcript -
3/28 - - - - - - - rs41272475 - 1 -
HGNC 25565 - - - - - - 0.0012 likely_benign
- 1 - - - - - -
169698643 1:169698643-169698643 G downstream_gene_variant MODIFIER SELE
ENSG00000007908 Transcript ENST00000609271.1 protein_coding - -
- - - - - - - rs41272475 4075 -1 cds_end_NF
HGNC 10718 - - - - - - 0.0012 likely_benign
- 1 - - - - - -
169822088 1:169822088-169822088 C missense_variant MODERATE C1orf112
ENSG00000000460 Transcript ENST00000286031.6 protein_coding 24/24 -
- - 3222 2522 841 R/T aGg/aCg rs41308405,COSV104587822
- 1 - HGNC 25565 - - - - tolerated(0.24)
benign(0.007) 0.0012 - 0,1 0,1 - - - - -
-
169822088 1:169822088-169822088 C missense_variant MODERATE C1orf112
ENSG00000000460 Transcript ENST00000359326.4 protein_coding 25/25 -
 - - 2869 2522 841 R/T aGg/aCg rs41308405,COSV104587822
- 1 - HGNC 25565 - - - - tolerated(0.24)
benign(0.007) 0.0012 - 0,1 0,1 - - - - -
-
169822088 1:169822088-169822088 C downstream_gene_variant MODIFIER SCYL3
ENSG00000000457 Transcript ENST00000367770.1 protein_coding - -
- - - - - - - rs41308405,COSV104587822 127
-1 - HGNC 19285 - - - - - - 0.0012 -
0,1 0,1 - - - - - -
169822088 1:169822088-169822088 C 3_prime_UTR_variant MODIFIER SCYL3
ENSG00000000457 Transcript ENST00000367771.6 protein_coding 13/13 -
- - 3048 - - - - rs41308405,COSV104587822 -
-1 - HGNC 19285 - - - - - - 0.0012 -
0,1 0,1 - - - - - -
169822088 1:169822088-169822088 C 3_prime_UTR_variant MODIFIER SCYL3
ENSG00000000457 Transcript ENST00000367772.4 protein_coding 14/14 -
- - 3193 - - - - rs41308405,COSV104587822 -
-1 - HGNC 19285 - - - - - - 0.0012 -
0,1 0,1 - - - - - -
169822088 1:169822088-169822088 C downstream_gene_variant MODIFIER SCYL3
ENSG00000000457 Transcript ENST00000423670.1 protein_coding - -
- - - - - - - rs41308405,COSV104587822 1564
-1 cds_end_NF HGNC 19285 - - - - - - 0.0012
- 0,1 0,1 - - - - - -
169822088 1:169822088-169822088 C non_coding_transcript_exon_variant
MODIFIER C1orf112 ENSG00000000460 Transcript ENST00000459772.1
processed_transcript 23/23 - - - 2594 - - - -
rs41308405,COSV104587822 - 1 - HGNC 25565 - - -
- - - 0.0012 - 0,1 0,1 - - - - -
-
169822088 1:169822088-169822088 C non_coding_transcript_exon_variant
MODIFIER C1orf112 ENSG00000000460 Transcript ENST00000498289.1
processed_transcript 29/29 - - - 3711 - - - -
rs41308405,COSV104587822 - 1 - HGNC 25565 - - -
- - - 0.0012 - 0,1 0,1 - - - - -
-
249208078 1:249208078-249208078 C missense_variant,splice_region_variant
MODERATE PGBD2 ENSG00000185220 Transcript ENST00000329291.5
protein_coding 2/3 - - - 164 17 6 R/T aGa/aCa
rs750462204 - 1 - HGNC 19399 - - - -
deleterious_low_confidence(0.05) benign(0.011) - - - -
- - - - - -
249208078 1:249208078-249208078 C splice_region_variant,5_prime_UTR_variant
LOW PGBD2 ENSG00000185220 Transcript ENST00000355360.4 protein_coding
2/3 - - - 211 - - - - rs750462204 - 1
- HGNC 19399 - - - - - - - - - -
- - - - - -
249208078 1:249208078-249208078 C upstream_gene_variant MODIFIER RNU6-
1205P ENSG00000200495 Transcript ENST00000363625.1 snRNA - - - -
- - - - - rs750462204 1084 -1 - HGNC 48168 -
- - - - - - - - - - - - -
- -
249208078 1:249208078-249208078 C
splice_region_variant,non_coding_transcript_exon_variant LOW PGBD2
ENSG00000185220 Transcript ENST00000462488.1 processed_transcript 2/3
- - - 159 - - - - rs750462204 - 1 -
HGNC 19399 - - - - - - - - - - -
- - - - -
249208078 1:249208078-249208078 C splice_region_variant,5_prime_UTR_variant
 LOW PGBD2 ENSG00000185220 Transcript ENST00000539153.1 protein_coding
2/4 - - - 142 - - - - rs750462204 - 1
- HGNC 19399 - - - - - - - - - -
- - - - - -
249208078 1:249208078-249208078 C regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00001799324 promoter_flanking_region
- - - - - - - - - rs750462204 - -
- - - - - - - - - - - - -
- - - - - -
59210644 11:59210644-59210644 A start_lost HIGH OR5A1 ENSG00000172320
Transcript ENST00000302030.2 protein_coding 1/1 - - - 28
3 1 M/I atG/atA rs767290543 - 1 - HGNC 8319 -
- - - tolerated(0.09) benign(0.001) - - - -
- - - - - -
63743706 11:63743706-63743706 A missense_variant MODERATE COX8A
ENSG00000176340 Transcript ENST00000314133.3 protein_coding 2/2 -
- - 198 124 42 V/I Gtt/Att rs550927126,COSV58478826
- 1 - HGNC 2294 - - - - tolerated(1)
benign(0.005) - - 0,1 0,1 - - - - - -
63743706 11:63743706-63743706 A intron_variant MODIFIER AP000721.4
ENSG00000256100 Transcript ENST00000535431.1 protein_coding - 1/2
- - - - - - - rs550927126,COSV58478826 -
1 - Clone_based_vega_gene - - - - - - -
- - 0,1 0,1 - - - - - -
63743706 11:63743706-63743706 A regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00000040597 promoter - - -
- - - - - - rs550927126,COSV58478826 - -
- - - - - - - - - - - 0,1 0,1
- - - - - -
64067166 11:64067166-64067166 C upstream_gene_variant MODIFIER TEX40
ENSG00000219435 Transcript ENST00000328404.6 protein_coding - -
- - - - - - - rs572055265 697 1 - HGNC
19231 - - - - - - - - - - - -
- - - -
64067166 11:64067166-64067166 C downstream_gene_variant MODIFIER Y_RNA
ENSG00000207024 Transcript ENST00000384297.1 misc_RNA - - -
- - - - - - rs572055265 3556 1 - RFAM -
- - - - - - - - - - - - -
- - -
64067166 11:64067166-64067166 C missense_variant MODERATE KCNK4
ENSG00000182450 Transcript ENST00000394525.2 protein_coding 7/7 -
- - 1336 1150 384 G/R Ggg/Cgg rs572055265 - 1 -
HGNC 6279 - - - - deleterious_low_confidence(0.05)
benign(0.003) - - - - - - - - - -
64067166 11:64067166-64067166 C missense_variant MODERATE KCNK4
ENSG00000182450 Transcript ENST00000422670.2 protein_coding 7/7 -
- - 1385 1150 384 G/R Ggg/Cgg rs572055265 - 1 -
HGNC 6279 - - - - deleterious_low_confidence(0.05)
benign(0.003) - - - - - - - - - -
64067166 11:64067166-64067166 C downstream_gene_variant MODIFIER KCNK4
ENSG00000182450 Transcript ENST00000453423.1 retained_intron - -
- - - - - - - rs572055265 254 1 - HGNC
6279 - - - - - - - - - - - -
- - - -
64067166 11:64067166-64067166 C upstream_gene_variant MODIFIER TEX40
ENSG00000219435 Transcript ENST00000535981.1 retained_intron - -
- - - - - - - rs572055265 3961 1 - HGNC
19231 - - - - - - - - - - - -
- - - -
64067166 11:64067166-64067166 C non_coding_transcript_exon_variant
MODIFIER KCNK4 ENSG00000182450 Transcript ENST00000536690.1
retained_intron 3/3 - - - 1281 - - - -
rs572055265 - 1 - HGNC 6279 - - - - - -
- - - - - - - - - -
64067166 11:64067166-64067166 C missense_variant MODERATE KCNK4
ENSG00000182450 Transcript ENST00000538767.1 protein_coding 6/6 -
- - 1055 803 268 R/P cGg/cCg rs572055265 - 1 -
HGNC 6279 - - - - - benign(0.013) - - -
- - - - - - -
64067166 11:64067166-64067166 C downstream_gene_variant MODIFIER KCNK4
ENSG00000182450 Transcript ENST00000538846.1 retained_intron - -
- - - - - - - rs572055265 2268 1 - HGNC
6279 - - - - - - - - - - - -
- - - -
64067166 11:64067166-64067166 C non_coding_transcript_exon_variant
MODIFIER RP11-783K16.10 ENSG00000257069 Transcript ENST00000539086.1
processed_transcript 7/11 - - - 1291 - - - -
rs572055265 - 1 - Clone_based_vega_gene - - - -
- - - - - - - - - - - - -
64067166 11:64067166-64067166 C missense_variant MODERATE KCNK4
ENSG00000182450 Transcript ENST00000539216.1 protein_coding 6/6 -
- - 1510 1150 384 G/R Ggg/Cgg rs572055265 - 1 -
HGNC 6279 - - - - deleterious_low_confidence(0.05)
benign(0.003) - - - - - - - - - -
64067166 11:64067166-64067166 C downstream_gene_variant MODIFIER KCNK4
ENSG00000182450 Transcript ENST00000539651.1 processed_transcript -
- - - - - - - - rs572055265 1492 1 -
HGNC 6279 - - - - - - - - - - -
- - - - -
64067166 11:64067166-64067166 C upstream_gene_variant MODIFIER TEX40
ENSG00000219435 Transcript ENST00000539943.1 protein_coding - -
- - - - - - - rs572055265 752 1 - HGNC
19231 - - - - - - - - - - - -
- - - -
64067166 11:64067166-64067166 C
3_prime_UTR_variant,NMD_transcript_variant MODIFIER KCNK4
ENSG00000182450 Transcript ENST00000541349.1 nonsense_mediated_decay 7/7
- - - 1133 - - - - rs572055265 - 1 -
HGNC 6279 - - - - - - - - - - -
- - - - -
64067166 11:64067166-64067166 C downstream_gene_variant MODIFIER KCNK4
ENSG00000182450 Transcript ENST00000545838.1 retained_intron - -
- - - - - - - rs572055265 2329 1 - HGNC
6279 - - - - - - - - - - - -
- - - -
64067166 11:64067166-64067166 C regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00000040647 promoter - - -
- - - - - - rs572055265 - - - - -
- - - - - - - - - - - - -
- - -
74015414 11:74015414-74015414 C missense_variant MODERATE P4HA3
ENSG00000149380 Transcript ENST00000331597.4 protein_coding 2/13 -
- - 290 244 82 P/A Cct/Gct rs911623429,COSV100526015
- -1 - HGNC 30135 - - - - tolerated(0.65)
benign(0.03) - - 0,1 0,1 - - - - - -
74015414 11:74015414-74015414 C missense_variant MODERATE P4HA3
ENSG00000149380 Transcript ENST00000427714.2 protein_coding 2/13 -
- - 273 244 82 P/A Cct/Gct rs911623429,COSV100526015
 - -1 - HGNC 30135 - - - - tolerated(0.64)
benign(0.191) - - 0,1 0,1 - - - - - -
74015414 11:74015414-74015414 C missense_variant,NMD_transcript_variant
MODERATE P4HA3 ENSG00000149380 Transcript ENST00000524388.1
nonsense_mediated_decay 2/16 - - - 264 244 82 P/A
Cct/Gct rs911623429,COSV100526015 - -1 - HGNC 30135 -
- - - tolerated(0.72) benign(0.038) - - 0,1 0,1
- - - - - -
74015414 11:74015414-74015414 C missense_variant,NMD_transcript_variant
MODERATE P4HA3 ENSG00000149380 Transcript ENST00000525968.1
nonsense_mediated_decay 2/12 - - - 257 244 82 P/A
Cct/Gct rs911623429,COSV100526015 - -1 - HGNC 30135 -
- - - tolerated(0.41) benign(0.063) - - 0,1 0,1
- - - - - -
93487189 11:93487189-93487189 A missense_variant MODERATE C11orf54
ENSG00000182919 Transcript ENST00000331239.4 protein_coding 5/9 -
- - 495 316 106 G/R Ggg/Agg rs111749614 - 1 -
HGNC 30204 - - - - deleterious(0) probably_damaging(0.997)
0.0006 - - - - - - - - -
93487189 11:93487189-93487189 A missense_variant MODERATE C11orf54
ENSG00000182919 Transcript ENST00000354421.3 protein_coding 5/9 -
- - 473 316 106 G/R Ggg/Agg rs111749614 - 1 -
HGNC 30204 - - - - deleterious(0) probably_damaging(0.997)
0.0006 - - - - - - - - -
93487189 11:93487189-93487189 A missense_variant MODERATE C11orf54
ENSG00000182919 Transcript ENST00000526335.1 protein_coding 4/5 -
- - 1225 316 106 G/R Ggg/Agg rs111749614 - 1
cds_end_NF HGNC 30204 - - - - deleterious(0)
probably_damaging(0.997) 0.0006 - - - - - -
- - -
93487189 11:93487189-93487189 A downstream_gene_variant MODIFIER
C11orf54 ENSG00000182919 Transcript ENST00000527003.1 protein_coding
- - - - - - - - - rs111749614 266 1
cds_end_NF HGNC 30204 - - - - - - 0.0006 -
- - - - - - - -
93487189 11:93487189-93487189 A missense_variant MODERATE C11orf54
ENSG00000182919 Transcript ENST00000527363.1 protein_coding 5/6 -
- - 1060 316 106 G/R Ggg/Agg rs111749614 - 1
cds_end_NF HGNC 30204 - - - - deleterious(0)
probably_damaging(0.997) 0.0006 - - - - - -
- - -
93487189 11:93487189-93487189 A intron_variant MODIFIER TAF1D
ENSG00000166012 Transcript ENST00000527690.1 protein_coding - 1/2
- - - - - - - rs111749614 - -1 cds_end_NF
HGNC 28759 - - - - - - 0.0006 - - -
- - - - - -
93487189 11:93487189-93487189 A missense_variant MODERATE C11orf54
ENSG00000182919 Transcript ENST00000528099.1 protein_coding 6/10 -
- - 615 316 106 G/R Ggg/Agg rs111749614 - 1 -
HGNC 30204 - - - - deleterious(0) probably_damaging(0.997)
0.0006 - - - - - - - - -
93487189 11:93487189-93487189 A missense_variant MODERATE C11orf54
ENSG00000182919 Transcript ENST00000528288.1 protein_coding 5/8 -
- - 551 316 106 G/R Ggg/Agg rs111749614 - 1 -
HGNC 30204 - - - - deleterious(0) probably_damaging(0.998)
0.0006 - - - - - - - - -
93487189 11:93487189-93487189 A downstream_gene_variant MODIFIER
C11orf54 ENSG00000182919 Transcript ENST00000530279.1 protein_coding
- - - - - - - - - rs111749614 29 1
 cds_end_NF HGNC 30204 - - - - - - 0.0006 -
- - - - - - - -
93487189 11:93487189-93487189 A missense_variant MODERATE C11orf54
ENSG00000182919 Transcript ENST00000530620.1 protein_coding 4/7 -
- - 320 259 87 G/R Ggg/Agg rs111749614 - 1
cds_end_NF HGNC 30204 - - - - deleterious(0.04)
probably_damaging(0.997) 0.0006 - - - - - -
- - -
93487189 11:93487189-93487189 A missense_variant MODERATE C11orf54
ENSG00000182919 Transcript ENST00000531650.1 protein_coding 5/7 -
- - 456 316 106 G/R Ggg/Agg rs111749614 - 1
cds_end_NF HGNC 30204 - - - - deleterious(0)
probably_damaging(0.994) 0.0006 - - - - - -
- - -
93487189 11:93487189-93487189 A upstream_gene_variant MODIFIER
C11orf54 ENSG00000182919 Transcript ENST00000533154.1 protein_coding
- - - - - - - - - rs111749614 850 1
cds_end_NF HGNC 30204 - - - - - - 0.0006 -
- - - - - - - -
93487189 11:93487189-93487189 A downstream_gene_variant MODIFIER
C11orf54 ENSG00000182919 Transcript ENST00000533585.1 protein_coding
- - - - - - - - - rs111749614 15 1
cds_end_NF HGNC 30204 - - - - - - 0.0006 -
- - - - - - - -
93487189 11:93487189-93487189 A missense_variant MODERATE C11orf54
ENSG00000182919 Transcript ENST00000540113.1 protein_coding 5/9 -
- - 473 259 87 G/R Ggg/Agg rs111749614 - 1 -
HGNC 30204 - - - - deleterious(0.03) probably_damaging(0.997)
0.0006 - - - - - - - - -
102999660 11:102999660-102999660 G missense_variant MODERATE DYNC2H1
ENSG00000187240 Transcript ENST00000334267.7 protein_coding 13/20 -
- - 1932 1879 627 I/V Att/Gtt rs373888584 - 1 -
HGNC 2962 - - - - tolerated(0.05) probably_damaging(0.978)
- - - - - - - - - -
102999660 11:102999660-102999660 G missense_variant MODERATE DYNC2H1
ENSG00000187240 Transcript ENST00000375735.2 protein_coding 13/89 -
- - 2023 1879 627 I/V Att/Gtt rs373888584 - 1 -
HGNC 2962 - - - - tolerated(0.05) possibly_damaging(0.51)
- - - - - - - - - -
102999660 11:102999660-102999660 G missense_variant MODERATE DYNC2H1
ENSG00000187240 Transcript ENST00000398093.3 protein_coding 13/90 -
- - 1879 1879 627 I/V Att/Gtt rs373888584 - 1 -
HGNC 2962 - - - - tolerated(0.05) benign(0.182) -
- - - - - - - - -
57423292 12:57423292-57423292 G missense_variant MODERATE MYO1A
ENSG00000166866 Transcript ENST00000300119.3 protein_coding 26/28 -
- - 3055 2804 935 I/T aTt/aCt rs372760228 - -1 -
HGNC 7595 - - - - deleterious(0) possibly_damaging(0.777)
- uncertain_significance - 1 24033266 - - - -
-
57423292 12:57423292-57423292 G upstream_gene_variant MODIFIER TAC3
ENSG00000166863 Transcript ENST00000415231.1 protein_coding - -
- - - - - - - rs372760228 625 -1 - HGNC
11521 - - - - - - - uncertain_significance -
1 24033266 - - - - -
57423292 12:57423292-57423292 G missense_variant MODERATE MYO1A
ENSG00000166866 Transcript ENST00000442789.2 protein_coding 27/29 -
- - 3092 2804 935 I/T aTt/aCt rs372760228 - -1 -
HGNC 7595 - - - - deleterious(0) possibly_damaging(0.777)
 - uncertain_significance - 1 24033266 - - - -
-
57423292 12:57423292-57423292 G non_coding_transcript_exon_variant
MODIFIER MYO1A ENSG00000166866 Transcript ENST00000477864.1
processed_transcript 4/4 - - - 367 - - - -
rs372760228 - -1 - HGNC 7595 - - - - - -
- uncertain_significance - 1 24033266 - - - -
-
57423292 12:57423292-57423292 G downstream_gene_variant MODIFIER MYO1A
ENSG00000166866 Transcript ENST00000487083.1 retained_intron - -
- - - - - - - rs372760228 455 -1 - HGNC
7595 - - - - - - - uncertain_significance -
1 24033266 - - - - -
57423292 12:57423292-57423292 G missense_variant MODERATE MYO1A
ENSG00000166866 Transcript ENST00000544473.1 protein_coding 22/24 -
- - 2636 2318 773 I/T aTt/aCt rs372760228 - -1 -
HGNC 7595 - - - - deleterious(0) possibly_damaging(0.777)
- uncertain_significance - 1 24033266 - - - -
-
57423292 12:57423292-57423292 G
3_prime_UTR_variant,NMD_transcript_variant MODIFIER MYO1A
ENSG00000166866 Transcript ENST00000554234.1 nonsense_mediated_decay 22/24
- - - 2634 - - - - rs372760228 - -1 -
HGNC 7595 - - - - - - - uncertain_significance
- 1 24033266 - - - - -
133331371 12:133331371-133331371 A missense_variant MODERATE ANKLE2
ENSG00000176915 Transcript ENST00000337516.5 protein_coding 2/11 -
- - 597 530 177 S/L tCg/tTg rs185977448 - -1 -
HGNC 29101 - - - - tolerated(0.08) benign(0.239) 0.0008
likely_benign - 1 - - - - - -
133331371 12:133331371-133331371 A missense_variant MODERATE ANKLE2
ENSG00000176915 Transcript ENST00000357997.5 protein_coding 2/13 -
- - 620 530 177 S/L tCg/tTg rs185977448 - -1 -
HGNC 29101 - - - - tolerated(0.07) benign(0.173) 0.0008
likely_benign - 1 - - - - - -
133331371 12:133331371-133331371 A missense_variant MODERATE ANKLE2
ENSG00000176915 Transcript ENST00000539605.1 protein_coding 1/12 -
- - 7029 344 115 S/L tCg/tTg rs185977448 - -1 -
HGNC 29101 - - - - tolerated(0.07) benign(0.173) 0.0008
likely_benign - 1 - - - - - -
133331371 12:133331371-133331371 A upstream_gene_variant MODIFIER ANKLE2
ENSG00000176915 Transcript ENST00000545623.1 protein_coding - -
- - - - - - - rs185977448 3451 -1 cds_end_NF
HGNC 29101 - - - - - - 0.0008 likely_benign
- 1 - - - - - -
133331371 12:133331371-133331371 A regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00001557019 CTCF_binding_site - -
- - - - - - - rs185977448 - - - -
- - - - - - - 0.0008 likely_benign -
1 - - - - - -
133331371 12:133331371-133331371 A regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00001557020 promoter_flanking_region
- - - - - - - - - rs185977448 - -
- - - - - - - - - 0.0008
likely_benign - 1 - - - - - -
19573115 14:19573115-19573115 T missense_variant MODERATE POTEG
ENSG00000222036 Transcript ENST00000409832.3 protein_coding 8/11 -
- - 1265 1213 405 P/S Cca/Tca rs146788089 - 1 -
HGNC 33896 - - - - tolerated(0.06) benign(0.154) -
 - - - - - - - - -
19573115 14:19573115-19573115 T missense_variant,NMD_transcript_variant
MODERATE POTEG ENSG00000222036 Transcript ENST00000547889.1
nonsense_mediated_decay 8/12 - - - 1265 1213 405 P/S
Cca/Tca rs146788089 - 1 - HGNC 33896 - - - -
tolerated(0.06) benign(0.082) - - - - - - -
- - -
19573115 14:19573115-19573115 T
3_prime_UTR_variant,NMD_transcript_variant MODIFIER POTEG
ENSG00000222036 Transcript ENST00000552966.1 nonsense_mediated_decay 9/12
- - - 1521 - - - - rs146788089 - 1 -
HGNC 33896 - - - - - - - - - - -
- - - - -
20612813 14:20612813-20612813 C missense_variant MODERATE OR4N5
ENSG00000184394 Transcript ENST00000333629.1 protein_coding 1/1 -
- - 919 919 307 F/L Ttt/Ctt rs147051527 - 1 -
HGNC 15358 - - - - tolerated(0.39) benign(0) 0.0002
- - - - - - - - -
20612813 14:20612813-20612813 C downstream_gene_variant MODIFIER
RNA5SP381 ENSG00000251885 Transcript ENST00000516076.1 rRNA - -
- - - - - - - rs147051527 1463 -1 - HGNC
43281 - - - - - - 0.0002 - - - -
- - - - -
20612813 14:20612813-20612813 C upstream_gene_variant MODIFIER
PSMB7P1 ENSG00000259074 Transcript ENST00000556349.1 unitary_pseudogene
- - - - - - - - - rs147051527 4578 1
- HGNC 49192 - - - - - - 0.0002 - -
- - - - - - -
24573280 16:24573280-24573280 C missense_variant MODERATE RBBP6
ENSG00000122257 Transcript ENST00000319715.4 protein_coding 10/18 -
- - 1519 1087 363 S/P Tca/Cca rs140343059,COSV100155215
- 1 - HGNC 9889 - - - -
deleterious_low_confidence(0.04) benign(0.003) 0.0002 - 0,1
0,1 - - - - - -
24573280 16:24573280-24573280 C missense_variant MODERATE RBBP6
ENSG00000122257 Transcript ENST00000348022.2 protein_coding 10/17 -
- - 1131 1087 363 S/P Tca/Cca rs140343059,COSV100155215
- 1 - HGNC 9889 - - - -
tolerated_low_confidence(0.08) benign(0.006) 0.0002 - 0,1
0,1 - - - - - -
24573280 16:24573280-24573280 C missense_variant MODERATE RBBP6
ENSG00000122257 Transcript ENST00000381039.3 protein_coding 10/11 -
- - 1194 1087 363 S/P Tca/Cca rs140343059,COSV100155215
- 1 - HGNC 9889 - - - -
tolerated_low_confidence(0.06) benign(0.003) 0.0002 - 0,1
0,1 - - - - - -
24573280 16:24573280-24573280 C non_coding_transcript_exon_variant
MODIFIER RBBP6 ENSG00000122257 Transcript ENST00000562430.1
retained_intron 6/13 - - - 1877 - - - -
rs140343059,COSV100155215 - 1 - HGNC 9889 - - -
- - - 0.0002 - 0,1 0,1 - - - - -
-
24573280 16:24573280-24573280 C downstream_gene_variant MODIFIER RBBP6
ENSG00000122257 Transcript ENST00000562683.1 retained_intron - -
- - - - - - - rs140343059,COSV100155215 2154
1 - HGNC 9889 - - - - - - 0.0002 -
0,1 0,1 - - - - - -
24573280 16:24573280-24573280 C missense_variant MODERATE RBBP6
ENSG00000122257 Transcript ENST00000564314.1 protein_coding 8/15 -
 - - 1025 688 230 S/P Tca/Cca rs140343059,COSV100155215
- 1 cds_end_NF HGNC 9889 - - - -
tolerated_low_confidence(0.08) benign(0.003) 0.0002 - 0,1
0,1 - - - - - -
24573280 16:24573280-24573280 C downstream_gene_variant MODIFIER RBBP6
ENSG00000122257 Transcript ENST00000567686.1 protein_coding - -
- - - - - - - rs140343059,COSV100155215 294
1 cds_end_NF HGNC 9889 - - - - - - 0.0002
- 0,1 0,1 - - - - - -
24573280 16:24573280-24573280 C upstream_gene_variant MODIFIER RBBP6
ENSG00000122257 Transcript ENST00000570185.1 retained_intron - -
- - - - - - - rs140343059,COSV100155215 1321
1 - HGNC 9889 - - - - - - 0.0002 -
0,1 0,1 - - - - - -
71103393 16:71103393-71103393 T missense_variant MODERATE HYDIN
ENSG00000157423 Transcript ENST00000288168.10 protein_coding 14/15
- - - 1816 1802 601 T/N aCc/aAc rs7200126 - -1
- HGNC 19368 - - - - deleterious(0)
possibly_damaging(0.565) - - - - - - - -
- -
71103393 16:71103393-71103393 T missense_variant MODERATE HYDIN
ENSG00000157423 Transcript ENST00000321489.5 protein_coding 14/20 -
- - 1902 1751 584 T/N aCc/aAc rs7200126 - -1 -
HGNC 19368 - - - - deleterious(0) possibly_damaging(0.548)
- - - - - - - - - -
71103393 16:71103393-71103393 T missense_variant MODERATE HYDIN
ENSG00000157423 Transcript ENST00000393550.2 protein_coding 15/17 -
- - 1913 1796 599 T/N aCc/aAc rs7200126 - -1 -
HGNC 19368 - - - - deleterious(0) possibly_damaging(0.565)
- - - - - - - - - -
71103393 16:71103393-71103393 T missense_variant,NMD_transcript_variant
MODERATE HYDIN ENSG00000157423 Transcript ENST00000393552.2
nonsense_mediated_decay 6/18 - - - 605 605 202 T/N
aCc/aAc rs7200126 - -1 cds_start_NF HGNC 19368 - -
- - deleterious(0) possibly_damaging(0.734) - - -
- - - - - - -
71103393 16:71103393-71103393 T missense_variant MODERATE HYDIN
ENSG00000157423 Transcript ENST00000393567.2 protein_coding 14/86 -
- - 1902 1751 584 T/N aCc/aAc rs7200126 - -1 -
HGNC 19368 - - - - deleterious(0) possibly_damaging(0.682)
- - - - - - - - - -
71103393 16:71103393-71103393 T missense_variant MODERATE HYDIN
ENSG00000157423 Transcript ENST00000448089.2 protein_coding 14/23 -
- - 1868 1751 584 T/N aCc/aAc rs7200126 - -1 -
HGNC 19368 - - - - deleterious(0) possibly_damaging(0.672)
- - - - - - - - - -
71103393 16:71103393-71103393 T missense_variant MODERATE HYDIN
ENSG00000157423 Transcript ENST00000448691.1 protein_coding 14/20 -
- - 1874 1751 584 T/N aCc/aAc rs7200126 - -1 -
HGNC 19368 - - - - deleterious(0) possibly_damaging(0.548)
- - - - - - - - - -
71103393 16:71103393-71103393 T missense_variant MODERATE HYDIN
ENSG00000157423 Transcript ENST00000538248.1 protein_coding 14/19 -
- - 1867 1832 611 T/N aCc/aAc rs7200126 - -1 -
HGNC 19368 - - - - deleterious(0) possibly_damaging(0.615)
- - - - - - - - - -
71103393 16:71103393-71103393 T
3_prime_UTR_variant,NMD_transcript_variant MODIFIER HYDIN
ENSG00000157423 Transcript ENST00000539447.1 nonsense_mediated_decay 12/19
 - - - 1454 - - - - rs7200126 - -1
cds_start_NF HGNC 19368 - - - - - - - -
- - - - - - - -
71103393 16:71103393-71103393 T missense_variant MODERATE HYDIN
ENSG00000157423 Transcript ENST00000541601.1 protein_coding 14/19 -
- - 1829 1802 601 T/N aCc/aAc rs7200126 - -1 -
HGNC 19368 - - - - deleterious(0) possibly_damaging(0.477)
- - - - - - - - - -
71103393 16:71103393-71103393 T upstream_gene_variant MODIFIER HYDIN
ENSG00000157423 Transcript ENST00000542890.1 protein_coding - -
- - - - - - - rs7200126 45 -1 cds_start_NF
HGNC 19368 - - - - - - - - - - -
- - - - -
71103393 16:71103393-71103393 T non_coding_transcript_exon_variant
MODIFIER HYDIN ENSG00000157423 Transcript ENST00000543639.1
processed_transcript 3/3 - - - 419 - - - -
rs7200126 - -1 - HGNC 19368 - - - - - -
- - - - - - - - - -
71103393 16:71103393-71103393 T missense_variant,NMD_transcript_variant
MODERATE HYDIN ENSG00000157423 Transcript ENST00000545230.1
nonsense_mediated_decay 10/16 - - - 1160 1160 387 T/N
aCc/aAc rs7200126 - -1 cds_start_NF HGNC 19368 - -
- - deleterious(0) possibly_damaging(0.565) - - -
- - - - - - -
1731221 17:1731221-1731221 G upstream_gene_variant MODIFIER RPA1
ENSG00000132383 Transcript ENST00000254719.5 protein_coding - -
- - - - - - - rs72822491 2057 1 - HGNC
10289 - - - - - - 0.0022 - - - -
- - - - -
1731221 17:1731221-1731221 G missense_variant MODERATE SMYD4
ENSG00000186532 Transcript ENST00000305513.7 protein_coding 2/11 -
- - 236 68 23 V/A gTt/gCt rs72822491 - -1 -
HGNC 21067 - - - - tolerated(0.41) benign(0) 0.0022
- - - - - - - - -
1731221 17:1731221-1731221 G missense_variant MODERATE SMYD4
ENSG00000186532 Transcript ENST00000570368.1 protein_coding 2/5 -
- - 191 68 23 V/A gTt/gCt rs72822491 - -1
cds_end_NF HGNC 21067 - - - - tolerated(0.46) benign(0)
0.0022 - - - - - - - - -
1731221 17:1731221-1731221 G upstream_gene_variant MODIFIER RPA1
ENSG00000132383 Transcript ENST00000570451.1 protein_coding - -
- - - - - - - rs72822491 2044 1 cds_end_NF
HGNC 10289 - - - - - - 0.0022 - - -
- - - - - -
1731221 17:1731221-1731221 G upstream_gene_variant MODIFIER RPA1
ENSG00000132383 Transcript ENST00000571058.1 protein_coding - -
- - - - - - - rs72822491 1775 1 cds_end_NF
HGNC 10289 - - - - - - 0.0022 - - -
- - - - - -
1731221 17:1731221-1731221 G missense_variant MODERATE SMYD4
ENSG00000186532 Transcript ENST00000571854.1 protein_coding 2/5 -
- - 122 68 23 V/A gTt/gCt rs72822491 - -1
cds_end_NF HGNC 21067 - - - - tolerated(0.48) benign(0)
0.0022 - - - - - - - - -
1731221 17:1731221-1731221 G non_coding_transcript_exon_variant
MODIFIER SMYD4 ENSG00000186532 Transcript ENST00000573937.1
retained_intron 2/4 - - - 165 - - - -
rs72822491 - -1 - HGNC 21067 - - - - - -
0.0022 - - - - - - - - -
1731221 17:1731221-1731221 G missense_variant,NMD_transcript_variant
MODERATE SMYD4 ENSG00000186532 Transcript ENST00000576633.1
nonsense_mediated_decay 2/4 - - - 165 68 23 V/A
gTt/gCt rs72822491 - -1 - HGNC 21067 - - - -
tolerated(0.35) benign(0) 0.0022 - - - - - -
- - -
1731221 17:1731221-1731221 G downstream_gene_variant MODIFIER
AC130689.1 ENSG00000265504 Transcript ENST00000582190.1 miRNA - -
- - - - - - - rs72822491 1914 -1 -
Clone_based_ensembl_gene - - - - - - - 0.0022
- - - - - - - - -
59821830 17:59821830-59821830 A missense_variant MODERATE BRIP1
ENSG00000136492 Transcript ENST00000259008.2 protein_coding 15/20 -
- - 2488 2220 740 Q/H caG/caT rs45589637,CM160119 -
-1 - HGNC 20473 - - - - deleterious(0.02)
probably_damaging(1) -

uncertain_significance,likely_benign,conflicting_interpretations_of_pathogenicity
- 1,1

25741868,24728327,25980754,25186627,32039725,23555315,26921362,27547810,30086788
- - - - -
59821830 17:59821830-59821830 A missense_variant MODERATE BRIP1
ENSG00000136492 Transcript ENST00000577598.1 protein_coding 14/18 -
- - 2220 2220 740 Q/H caG/caT rs45589637,CM160119 -
-1 - HGNC 20473 - - - - deleterious(0.03)
benign(0.231) -

uncertain_significance,likely_benign,conflicting_interpretations_of_pathogenicity
- 1,1

25741868,24728327,25980754,25186627,32039725,23555315,26921362,27547810,30086788
- - - - -
59821830 17:59821830-59821830 A missense_variant MODERATE BRIP1
ENSG00000136492 Transcript ENST00000584322.1 protein_coding 2/4 -
- - 203 204 68 Q/H caG/caT rs45589637,CM160119 -
-1 cds_start_NF HGNC 20473 - - - - deleterious(0.02)
benign(0.082) -

uncertain_significance,likely_benign,conflicting_interpretations_of_pathogenicity
- 1,1

25741868,24728327,25980754,25186627,32039725,23555315,26921362,27547810,30086788
- - - - -
73868433 2:73868433-73868433 T missense_variant MODERATE NAT8
ENSG00000144035 Transcript ENST00000272425.3 protein_coding 2/2 -
- - 473 323 108 C/Y tGc/tAc rs753457718 - -1 -
HGNC 18069 - - - - tolerated(0.05) benign(0.03) -
- - - - - - - - -
73868433 2:73868433-73868433 T upstream_gene_variant MODIFIER ALMS1P
ENSG00000163016 Transcript ENST00000450720.1 processed_transcript -
- - - - - - - - rs753457718 3613 1 -
HGNC 29586 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00001622106 promoter_flanking_region
- - - - - - - - - rs753457718 - -
- - - - - - - - - - - - -
- - - - - -
84834172 2:84834172-84834172 T stop_gained HIGH DNAH6 ENSG00000115423
Transcript ENST00000237449.6 protein_coding 20/76 - - - 3255
3247 1083 R/* Cga/Tga rs1367790540,COSV104585160 - 1 -
HGNC 2951 - - - - - - - - 0,1 0,1 -
- - - - -
84834172 2:84834172-84834172 T stop_gained HIGH DNAH6 ENSG00000115423
Transcript ENST00000389394.3 protein_coding 21/77 - - - 3384
3247 1083 R/* Cga/Tga rs1367790540,COSV104585160 - 1 -
HGNC 2951 - - - - - - - - 0,1 0,1 -
- - - - -
84834172 2:84834172-84834172 T stop_gained HIGH DNAH6 ENSG00000115423
Transcript ENST00000398278.2 protein_coding 21/46 - - - 3384
3247 1083 R/* Cga/Tga rs1367790540,COSV104585160 - 1 -
HGNC 2951 - - - - - - - - 0,1 0,1 -
- - - - -
97329203 2:97329203-97329203 A non_coding_transcript_exon_variant
MODIFIER FER1L5 ENSG00000249715 Transcript ENST00000414152.1
unitary_pseudogene 13/52 - - - 1048 - - - -
rs758909332 - 1 - HGNC 19044 - - - - - -
- - - - - - - - - -
97329203 2:97329203-97329203 A non_coding_transcript_exon_variant
MODIFIER FER1L5 ENSG00000249715 Transcript ENST00000424961.3
unitary_pseudogene 13/52 - - - 1063 - - - -
rs758909332 - 1 - HGNC 19044 - - - - - -
- - - - - - - - - -
97329203 2:97329203-97329203 A non_coding_transcript_exon_variant
MODIFIER FER1L5 ENSG00000249715 Transcript ENST00000436930.1
unitary_pseudogene 14/53 - - - 1063 - - - -
rs758909332 - 1 - HGNC 19044 - - - - - -
- - - - - - - - - -
60892813 20:60892813-60892813 A missense_variant MODERATE LAMA5
ENSG00000130702 Transcript ENST00000252999.3 protein_coding 54/80 -
- - 7328 7261 2421 R/W Cgg/Tgg rs140777270 - -1 -
HGNC 6485 - - - - deleterious(0.01) possibly_damaging(0.465)
- - - - - - - - - -
60892813 20:60892813-60892813 A upstream_gene_variant MODIFIER LAMA5
ENSG00000130702 Transcript ENST00000370691.2 nonsense_mediated_decay -
- - - - - - - - rs140777270 2878 -1 -
HGNC 6485 - - - - - - - - - - -
- - - - -
60892813 20:60892813-60892813 A upstream_gene_variant MODIFIER LAMA5
ENSG00000130702 Transcript ENST00000468786.1 retained_intron - -
- - - - - - - rs140777270 4177 -1 - HGNC
6485 - - - - - - - - - - - -
- - - -
60892813 20:60892813-60892813 A upstream_gene_variant MODIFIER LAMA5
ENSG00000130702 Transcript ENST00000471042.1 retained_intron - -
- - - - - - - rs140777270 1435 -1 - HGNC
6485 - - - - - - - - - - - -
- - - -
60892813 20:60892813-60892813 A downstream_gene_variant MODIFIER LAMA5
ENSG00000130702 Transcript ENST00000481120.1 retained_intron - -
- - - - - - - rs140777270 778 -1 - HGNC
6485 - - - - - - - - - - - -
- - - -
60892813 20:60892813-60892813 A upstream_gene_variant MODIFIER LAMA5
ENSG00000130702 Transcript ENST00000491036.1 retained_intron - -
- - - - - - - rs140777270 4796 -1 - HGNC
6485 - - - - - - - - - - - -
 - - - -
21562464 22:21562464-21562464 A missense_variant MODERATE GGT2
ENSG00000133475 Transcript ENST00000401924.1 protein_coding 15/15 -
- - 2165 1673 558 S/L tCg/tTg rs3888390,COSV67788782 -
-1 - HGNC 4251 - - - - deleterious(0)
benign(0.168) - - 0,1 0,1 - - - - - -
21562464 22:21562464-21562464 A missense_variant MODERATE GGT2
ENSG00000133475 Transcript ENST00000405188.4 protein_coding 12/12 -
- - 1643 1643 548 S/L tCg/tTg rs3888390,COSV67788782 -
-1 - HGNC 4251 - - - - deleterious(0)
benign(0.181) - - 0,1 0,1 - - - - - -
21562464 22:21562464-21562464 A missense_variant MODERATE GGT2
ENSG00000133475 Transcript ENST00000424627.1 protein_coding 13/13 -
- - 1869 1673 558 S/L tCg/tTg rs3888390,COSV67788782 -
-1 - HGNC 4251 - - - - deleterious(0)
benign(0.168) - - 0,1 0,1 - - - - - -
21562464 22:21562464-21562464 A regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00000301197 CTCF_binding_site - -
- - - - - - - rs3888390,COSV67788782 - -
- - - - - - - - - - - 0,1 0,1
- - - - - -
140794930 5:140794930-140794930 T intron_variant MODIFIER PCDHGA3
ENSG00000254245 Transcript ENST00000253812.6 protein_coding - 1/3
- - - - - - - rs62378454 - 1 - HGNC
8701 - - - - - - 0.0024 likely_benign -
1 - - - - - -
140794930 5:140794930-140794930 T intron_variant MODIFIER PCDHGA2
ENSG00000081853 Transcript ENST00000394576.2 protein_coding - 1/3
- - - - - - - rs62378454 - 1 - HGNC
8700 - - - - - - 0.0024 likely_benign -
1 - - - - - -
140794930 5:140794930-140794930 T upstream_gene_variant MODIFIER
PCDHGB7 ENSG00000254122 Transcript ENST00000398594.2 protein_coding
- - - - - - - - - rs62378454 2497 1
- HGNC 8714 - - - - - - 0.0024
likely_benign - 1 - - - - - -
140794930 5:140794930-140794930 T intron_variant MODIFIER PCDHGA8
ENSG00000253767 Transcript ENST00000398604.2 protein_coding - 1/3
- - - - - - - rs62378454 - 1 - HGNC
8706 - - - - - - 0.0024 likely_benign -
1 - - - - - -
140794930 5:140794930-140794930 T stop_gained HIGH PCDHGA10
ENSG00000253846 Transcript ENST00000398610.2 protein_coding 1/4 -
- - 2188 2188 730 Q/* Cag/Tag rs62378454 - 1 -
HGNC 8697 - - - - - - 0.0024 likely_benign
- 1 - - - - - -
140794930 5:140794930-140794930 T intron_variant MODIFIER PCDHGA1
ENSG00000204956 Transcript ENST00000517417.1 protein_coding - 1/3
- - - - - - - rs62378454 - 1 - HGNC
8696 - - - - - - 0.0024 likely_benign -
1 - - - - - -
140794930 5:140794930-140794930 T intron_variant MODIFIER PCDHGA6
ENSG00000253731 Transcript ENST00000517434.1 protein_coding - 1/3
- - - - - - - rs62378454 - 1 - HGNC
8704 - - - - - - 0.0024 likely_benign -
1 - - - - - -
140794930 5:140794930-140794930 T intron_variant MODIFIER PCDHGA5
ENSG00000253485 Transcript ENST00000518069.1 protein_coding - 1/3
- - - - - - - rs62378454 - 1 - HGNC
 8703 - - - - - - 0.0024 likely_benign -
1 - - - - - -
140794930 5:140794930-140794930 T intron_variant MODIFIER PCDHGA7
ENSG00000253537 Transcript ENST00000518325.1 protein_coding - 1/3
- - - - - - - rs62378454 - 1 - HGNC
8705 - - - - - - 0.0024 likely_benign -
1 - - - - - -
140794930 5:140794930-140794930 T intron_variant MODIFIER PCDHGB4
ENSG00000253953 Transcript ENST00000519479.1 protein_coding - 1/3
- - - - - - - rs62378454 - 1 - HGNC
8711 - - - - - - 0.0024 likely_benign -
1 - - - - - -
140794930 5:140794930-140794930 T intron_variant MODIFIER PCDHGB6
ENSG00000253305 Transcript ENST00000520790.1 protein_coding - 1/3
- - - - - - - rs62378454 - 1 - HGNC
8713 - - - - - - 0.0024 likely_benign -
1 - - - - - -
140794930 5:140794930-140794930 T intron_variant MODIFIER PCDHGB2
ENSG00000253910 Transcript ENST00000522605.1 protein_coding - 1/3
- - - - - - - rs62378454 - 1 - HGNC
8709 - - - - - - 0.0024 likely_benign -
1 - - - - - -
140794930 5:140794930-140794930 T intron_variant MODIFIER PCDHGB1
ENSG00000254221 Transcript ENST00000523390.1 protein_coding - 1/3
- - - - - - - rs62378454 - 1 - HGNC
8708 - - - - - - 0.0024 likely_benign -
1 - - - - - -
140794930 5:140794930-140794930 T intron_variant MODIFIER PCDHGA4
ENSG00000262576 Transcript ENST00000571252.1 protein_coding - 1/3
- - - - - - - rs62378454 - 1 - HGNC
8702 - - - - - - 0.0024 likely_benign -
1 - - - - - -
140794930 5:140794930-140794930 T intron_variant MODIFIER PCDHGA9
ENSG00000261934 Transcript ENST00000573521.1 protein_coding - 1/3
- - - - - - - rs62378454 - 1 - HGNC
8707 - - - - - - 0.0024 likely_benign -
1 - - - - - -
140794930 5:140794930-140794930 T intron_variant MODIFIER PCDHGB3
ENSG00000262209 Transcript ENST00000576222.1 protein_coding - 1/3
- - - - - - - rs62378454 - 1 - HGNC
8710 - - - - - - 0.0024 likely_benign -
1 - - - - - -
995004 7:995004-995004 T upstream_gene_variant MODIFIER ADAP1
ENSG00000105963 Transcript ENST00000265846.5 protein_coding - -
- - - - - - - rs147829246 671 -1 - HGNC
16486 - - - - - - 0.0006 - - - -
- - - - -
995004 7:995004-995004 T 5_prime_UTR_variant MODIFIER ADAP1
ENSG00000105963 Transcript ENST00000435943.1 protein_coding 1/6 -
- - 39 - - - - rs147829246 - -1 cds_end_NF
HGNC 16486 - - - - - - 0.0006 - - -
- - - - - -
995004 7:995004-995004 T intron_variant,NMD_transcript_variant
MODIFIER COX19 ENSG00000240230 Transcript ENST00000457254.1
nonsense_mediated_decay - 2/11 - - - - - - -
rs147829246 - -1 - HGNC 28074 - - - - - -
0.0006 - - - - - - - - -
995004 7:995004-995004 T upstream_gene_variant MODIFIER ADAP1
ENSG00000105963 Transcript ENST00000477906.1 processed_transcript -
 - - - - - - - - rs147829246 18 -1 -
HGNC 16486 - - - - - - 0.0006 - - -
- - - - - -
995004 7:995004-995004 T missense_variant MODERATE ADAP1
ENSG00000105963 Transcript ENST00000539900.1 protein_coding 1/11 -
- - 40 40 14 P/T Cct/Act rs147829246 - -1 -
HGNC 16486 - - - - tolerated_low_confidence(0.47)
benign(0) 0.0006 - - - - - - - - -
6071028 7:6071028-6071028 A intron_variant MODIFIER EIF2AK1
ENSG00000086232 Transcript ENST00000199389.6 protein_coding - 11/14
- - - - - - - rs190465246,COSV52241804 -
-1 - HGNC 24921 - - - - - - 0.0040 -
0,1 0,1 - - - - - -
6071028 7:6071028-6071028 A missense_variant MODERATE ANKRD61
ENSG00000157999 Transcript ENST00000409061.1 protein_coding 1/3 -
- - 22 22 8 G/R Gga/Aga rs190465246,COSV52241804
- 1 - HGNC 22467 - - - -
tolerated_low_confidence(0.08) benign(0.003) 0.0040 - 0,1
0,1 - - - - - -
6071028 7:6071028-6071028 A upstream_gene_variant MODIFIER EIF2AK1
ENSG00000086232 Transcript ENST00000422786.1 protein_coding - -
- - - - - - - rs190465246,COSV52241804 4845
-1 cds_start_NF HGNC 24921 - - - - - - 0.0040
- 0,1 0,1 - - - - - -
6071028 7:6071028-6071028 A upstream_gene_variant MODIFIER EIF2AK1
ENSG00000086232 Transcript ENST00000490523.1 retained_intron - -
- - - - - - - rs190465246,COSV52241804 2558
-1 - HGNC 24921 - - - - - - 0.0040 -
0,1 0,1 - - - - - -
6071028 7:6071028-6071028 A intron_variant MODIFIER EIF2AK1
ENSG00000086232 Transcript ENST00000536084.1 protein_coding - 10/14
- - - - - - - rs190465246,COSV52241804 -
-1 - HGNC 24921 - - - - - - 0.0040 -
0,1 0,1 - - - - - -
6071028 7:6071028-6071028 A regulatory_region_variant MODIFIER -
- RegulatoryFeature ENSR00002044794 promoter_flanking_region -
- - - - - - - - rs190465246,COSV52241804
- - - - - - - - - - - 0.0040
- 0,1 0,1 - - - - - -
16902233 7:16902233-16902233 T splice_donor_variant HIGH AGR3
ENSG00000173467 Transcript ENST00000310398.2 protein_coding - 4/7
- - - - - - - rs763311976,COSV60037841 -
-1 - HGNC 24167 - - - - - - - - 0,1
0,1 - - - - - -
16902233 7:16902233-16902233 T splice_donor_variant HIGH AGR3
ENSG00000173467 Transcript ENST00000402239.3 protein_coding - 4/6
- - - - - - - rs763311976,COSV60037841 -
-1 - HGNC 24167 - - - - - - - - 0,1
0,1 - - - - - -
16902233 7:16902233-16902233 T splice_donor_variant HIGH AGR3
ENSG00000173467 Transcript ENST00000414935.1 protein_coding - 3/5
- - - - - - - rs763311976,COSV60037841 -
-1 cds_start_NF,cds_end_NF HGNC 24167 - - - - - -
- - 0,1 0,1 - - - - - -
16902233 7:16902233-16902233 T downstream_gene_variant MODIFIER
RAD17P1 ENSG00000232400 Transcript ENST00000418130.1
processed_pseudogene - - - - - - - - -
rs763311976,COSV60037841 1658 -1 - HGNC 9808 - - -
- - - - - 0,1 0,1 - - - - - -
24905795 7:24905795-24905795 T missense_variant MODERATE OSBPL3
ENSG00000070882 Transcript ENST00000313367.2 protein_coding 6/23 -
- - 895 443 148 R/H cGt/cAt rs201132926,COSV57656074
- -1 - HGNC 16370 - - - - deleterious(0.02)
probably_damaging(0.999) 0.0004 - 0,1 0,1 - - -
- - -
24905795 7:24905795-24905795 T missense_variant MODERATE OSBPL3
ENSG00000070882 Transcript ENST00000352860.1 protein_coding 6/22 -
- - 848 443 148 R/H cGt/cAt rs201132926,COSV57656074
- -1 - HGNC 16370 - - - - deleterious(0.02)
probably_damaging(1) 0.0004 - 0,1 0,1 - - - -
- -
24905795 7:24905795-24905795 T missense_variant MODERATE OSBPL3
ENSG00000070882 Transcript ENST00000353930.1 protein_coding 6/22 -
- - 848 443 148 R/H cGt/cAt rs201132926,COSV57656074
- -1 - HGNC 16370 - - - - deleterious(0.02)
probably_damaging(1) 0.0004 - 0,1 0,1 - - - -
- -
24905795 7:24905795-24905795 T missense_variant MODERATE OSBPL3
ENSG00000070882 Transcript ENST00000396429.1 protein_coding 5/21 -
- - 546 443 148 R/H cGt/cAt rs201132926,COSV57656074
- -1 - HGNC 16370 - - - - deleterious(0.02)
probably_damaging(1) 0.0004 - 0,1 0,1 - - - -
- -
24905795 7:24905795-24905795 T missense_variant MODERATE OSBPL3
ENSG00000070882 Transcript ENST00000396431.1 protein_coding 5/21 -
- - 583 443 148 R/H cGt/cAt rs201132926,COSV57656074
- -1 - HGNC 16370 - - - - deleterious(0.02)
probably_damaging(1) 0.0004 - 0,1 0,1 - - - -
- -
24905795 7:24905795-24905795 T missense_variant MODERATE OSBPL3
ENSG00000070882 Transcript ENST00000409069.1 protein_coding 5/20 -
- - 546 443 148 R/H cGt/cAt rs201132926,COSV57656074
- -1 - HGNC 16370 - - - - deleterious(0.02)
probably_damaging(1) 0.0004 - 0,1 0,1 - - - -
- -
24905795 7:24905795-24905795 T missense_variant,NMD_transcript_variant
MODERATE OSBPL3 ENSG00000070882 Transcript ENST00000409452.1
nonsense_mediated_decay 5/22 - - - 546 443 148 R/H
cGt/cAt rs201132926,COSV57656074 - -1 - HGNC 16370 -
- - - deleterious(0.04) probably_damaging(0.999) 0.0004
- 0,1 0,1 - - - - - -
24905795 7:24905795-24905795 T missense_variant,NMD_transcript_variant
MODERATE OSBPL3 ENSG00000070882 Transcript ENST00000409555.1
nonsense_mediated_decay 5/20 - - - 546 443 148 R/H
cGt/cAt rs201132926,COSV57656074 - -1 - HGNC 16370 -
- - - deleterious(0.03) probably_damaging(0.998) 0.0004
- 0,1 0,1 - - - - - -
24905795 7:24905795-24905795 T missense_variant,NMD_transcript_variant
MODERATE OSBPL3 ENSG00000070882 Transcript ENST00000409759.1
nonsense_mediated_decay 5/21 - - - 546 443 148 R/H
cGt/cAt rs201132926,COSV57656074 - -1 - HGNC 16370 -
- - - deleterious(0.04) probably_damaging(1) 0.0004 -
0,1 0,1 - - - - - -
24905795 7:24905795-24905795 T missense_variant,NMD_transcript_variant
MODERATE OSBPL3 ENSG00000070882 Transcript ENST00000409863.1
nonsense_mediated_decay 5/21 - - - 546 443 148 R/H
cGt/cAt rs201132926,COSV57656074 - -1 - HGNC 16370 -
- - - deleterious(0.03) probably_damaging(1) 0.0004 -
 0,1 0,1 - - - - - -
24905795 7:24905795-24905795 T downstream_gene_variant MODIFIER OSBPL3
ENSG00000070882 Transcript ENST00000415162.1 protein_coding - -
- - - - - - - rs201132926,COSV57656074 4599
-1 cds_end_NF HGNC 16370 - - - - - - 0.0004
- 0,1 0,1 - - - - - -
24905795 7:24905795-24905795 T missense_variant MODERATE OSBPL3
ENSG00000070882 Transcript ENST00000431825.2 protein_coding 6/21 -
- - 848 443 148 R/H cGt/cAt rs201132926,COSV57656074
- -1 - HGNC 16370 - - - - deleterious(0.02)
probably_damaging(1) 0.0004 - 0,1 0,1 - - - -
- -
26224356 7:26224356-26224356 A missense_variant MODERATE NFE2L3
ENSG00000050344 Transcript ENST00000056233.3 protein_coding 4/4 -
- - 1297 1038 346 N/K aaT/aaA rs142226825 - 1 -
HGNC 7783 - - - - deleterious(0.01) benign(0.307) 0.0008
- - - - - - - - -
26224356 7:26224356-26224356 A non_coding_transcript_exon_variant
MODIFIER NFE2L3 ENSG00000050344 Transcript ENST00000606261.1
retained_intron 1/1 - - - 677 - - - -
rs142226825 - 1 - HGNC 7783 - - - - - -
0.0008 - - - - - - - - -
26224356 7:26224356-26224356 A downstream_gene_variant MODIFIER NFE2L3
ENSG00000050344 Transcript ENST00000607375.1 protein_coding - -
- - - - - - - rs142226825 862 1 cds_start_NF
HGNC 7783 - - - - - - 0.0008 - - -
- - - - - -
26224356 7:26224356-26224356 A regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00001390724 promoter_flanking_region
- - - - - - - - - rs142226825 - -
- - - - - - - - - 0.0008 - -
- - - - - - -
289557 9:289557-289557 A non_coding_transcript_exon_variant MODIFIER
DOCK8 ENSG00000107099 Transcript ENST00000382341.1 retained_intron 3/13
- - - 275 - - - - rs150742426,COSV66634374
- 1 - HGNC 19191 - - - - - - 0.0004
benign/likely_benign,likely_benign 0,1 1,1 - - - - -
-
289557 9:289557-289557 A missense_variant MODERATE DOCK8
ENSG00000107099 Transcript ENST00000432829.2 protein_coding 4/48 -
- - 492 176 59 R/H cGt/cAt rs150742426,COSV66634374
- 1 - HGNC 19191 - - - - tolerated(0.07)
benign(0.132) 0.0004 benign/likely_benign,likely_benign 0,1 1,1
- - - - - -
289557 9:289557-289557 A missense_variant MODERATE DOCK8
ENSG00000107099 Transcript ENST00000453981.1 protein_coding 4/48 -
- - 492 380 127 R/H cGt/cAt rs150742426,COSV66634374
- 1 - HGNC 19191 - - - - tolerated(0.07)
benign(0.132) 0.0004 benign/likely_benign,likely_benign 0,1 1,1
- - - - - -
289557 9:289557-289557 A non_coding_transcript_exon_variant MODIFIER
DOCK8 ENSG00000107099 Transcript ENST00000454469.2 retained_intron 4/14
- - - 489 - - - - rs150742426,COSV66634374
- 1 - HGNC 19191 - - - - - - 0.0004
benign/likely_benign,likely_benign 0,1 1,1 - - - - -
-
289557 9:289557-289557 A downstream_gene_variant MODIFIER DOCK8
ENSG00000107099 Transcript ENST00000469197.1 nonsense_mediated_decay -
- - - - - - - - rs150742426,COSV66634374
 2921 1 - HGNC 19191 - - - - - - 0.0004
benign/likely_benign,likely_benign 0,1 1,1 - - - - -
-
289557 9:289557-289557 A missense_variant MODERATE DOCK8
ENSG00000107099 Transcript ENST00000469391.1 protein_coding 3/46 -
- - 255 176 59 R/H cGt/cAt rs150742426,COSV66634374
- 1 - HGNC 19191 - - - - tolerated(0.07)
benign(0.132) 0.0004 benign/likely_benign,likely_benign 0,1 1,1
- - - - - -
289557 9:289557-289557 A non_coding_transcript_exon_variant MODIFIER
DOCK8 ENSG00000107099 Transcript ENST00000478380.1 retained_intron 3/5
- - - 259 - - - - rs150742426,COSV66634374
- 1 - HGNC 19191 - - - - - - 0.0004
benign/likely_benign,likely_benign 0,1 1,1 - - - - -
-
289557 9:289557-289557 A missense_variant MODERATE DOCK8
ENSG00000107099 Transcript ENST00000479404.1 protein_coding 4/4 -
- - 573 176 59 R/H cGt/cAt rs150742426,COSV66634374
- 1 cds_end_NF HGNC 19191 - - - - tolerated(0.08)
benign(0.132) 0.0004 benign/likely_benign,likely_benign 0,1 1,1
- - - - - -
289557 9:289557-289557 A missense_variant,NMD_transcript_variant
MODERATE DOCK8 ENSG00000107099 Transcript ENST00000483757.1
nonsense_mediated_decay 3/23 - - - 266 176 59 R/H
cGt/cAt rs150742426,COSV66634374 - 1 - HGNC 19191 -
- - - deleterious(0.05) probably_damaging(0.974) 0.0004
benign/likely_benign,likely_benign 0,1 1,1 - - - - -
-
289557 9:289557-289557 A missense_variant MODERATE DOCK8
ENSG00000107099 Transcript ENST00000487230.1 protein_coding 4/5 -
- - 390 176 59 R/H cGt/cAt rs150742426,COSV66634374
- 1 cds_end_NF HGNC 19191 - - - - deleterious(0)
benign(0.132) 0.0004 benign/likely_benign,likely_benign 0,1 1,1
- - - - - -
289557 9:289557-289557 A non_coding_transcript_exon_variant MODIFIER
DOCK8 ENSG00000107099 Transcript ENST00000495184.1 retained_intron 3/46
- - - 241 - - - - rs150742426,COSV66634374
- 1 - HGNC 19191 - - - - - - 0.0004
benign/likely_benign,likely_benign 0,1 1,1 - - - - -
-
289557 9:289557-289557 A 3_prime_UTR_variant,NMD_transcript_variant
MODIFIER DOCK8 ENSG00000107099 Transcript ENST00000524396.1
nonsense_mediated_decay 5/15 - - - 608 - - - -
rs150742426,COSV66634374 - 1 - HGNC 19191 - - -
- - - 0.0004 benign/likely_benign,likely_benign 0,1 1,1
- - - - - -
72897441 9:72897441-72897441 A missense_variant MODERATE SMC5
ENSG00000198887 Transcript ENST00000361138.5 protein_coding 7/25 -
- - 981 923 308 C/Y tGt/tAt rs142489701 - 1 -
HGNC 20465 - - - - tolerated(0.09) benign(0) 0.0004
- - - - - - - - -
79322886 9:79322886-79322886 G missense_variant MODERATE PRUNE2
ENSG00000106772 Transcript ENST00000376718.3 protein_coding 8/19 -
- - 4428 4304 1435 M/T aTg/aCg - - -1 - HGNC
25209 - - - - tolerated(0.42) benign(0) - - -
- - - - - - -
79322886 9:79322886-79322886 G missense_variant MODERATE PRUNE2
ENSG00000106772 Transcript ENST00000426088.1 protein_coding 1/11 -
- - 2268 2270 757 M/T aTg/aCg - - -1 cds_start_NF
 HGNC 25209 - - - - tolerated(0.3) benign(0.009) -
- - - - - - - - -
79322886 9:79322886-79322886 G missense_variant MODERATE PRUNE2
ENSG00000106772 Transcript ENST00000428286.1 protein_coding 8/19 -
- - 4428 3227 1076 M/T aTg/aCg - - -1 - HGNC
25209 - - - - tolerated(0.38) benign(0) - - -
- - - - - - -
79322886 9:79322886-79322886 G upstream_gene_variant MODIFIER PRUNE2
ENSG00000106772 Transcript ENST00000480674.1 processed_transcript -
- - - - - - - - - 4532 -1 - HGNC
25209 - - - - - - - - - - - -
- - - -
130674853 9:130674853-130674853 T missense_variant MODERATE ST6GALNAC4
ENSG00000136840 Transcript ENST00000335791.5 protein_coding 4/6 -
- - 581 305 102 R/H cGc/cAc rs775758978 - -1 -
HGNC 17846 - - - - - probably_damaging(0.998) -
- - - - - - - - -
130674853 9:130674853-130674853 T missense_variant MODERATE ST6GALNAC4
ENSG00000136840 Transcript ENST00000343609.2 protein_coding 3/5 -
- - 494 53 18 R/H cGc/cAc rs775758978 - -1 -
HGNC 17846 - - - - - probably_damaging(0.998) -
- - - - - - - - -
130674853 9:130674853-130674853 T missense_variant MODERATE ST6GALNAC4
ENSG00000136840 Transcript ENST00000361444.3 protein_coding 3/5 -
- - 464 53 18 R/H cGc/cAc rs775758978 - -1
cds_end_NF HGNC 17846 - - - - - probably_damaging(0.998)
- - - - - - - - - -
130674853 9:130674853-130674853 T
intron_variant,non_coding_transcript_variant MODIFIER ST6GALNAC4
ENSG00000136840 Transcript ENST00000467674.1 processed_transcript -
3/4 - - - - - - - rs775758978 - -1 -
HGNC 17846 - - - - - - - - - - -
- - - - -
130674853 9:130674853-130674853 T upstream_gene_variant MODIFIER
ST6GALNAC4 ENSG00000136840 Transcript ENST00000474282.2
processed_transcript - - - - - - - - -
rs775758978 180 -1 - HGNC 17846 - - - - - -
- - - - - - - - - -
130674853 9:130674853-130674853 T downstream_gene_variant MODIFIER
ST6GALNAC4 ENSG00000136840 Transcript ENST00000479747.1
processed_transcript - - - - - - - - -
rs775758978 3402 -1 - HGNC 17846 - - - - - -
- - - - - - - - - -
130674853 9:130674853-130674853 T non_coding_transcript_exon_variant
MODIFIER ST6GALNAC4 ENSG00000136840 Transcript ENST00000483438.1
processed_transcript 2/2 - - - 318 - - - -
rs775758978 - -1 - HGNC 17846 - - - - - -
- - - - - - - - - -
130674853 9:130674853-130674853 T non_coding_transcript_exon_variant
MODIFIER ST6GALNAC4 ENSG00000136840 Transcript ENST00000495983.1
processed_transcript 2/4 - - - 214 - - - -
rs775758978 - -1 - HGNC 17846 - - - - - -
- - - - - - - - - -
133270719 9:133270719-133270719 T upstream_gene_variant MODIFIER
AL354898.1 ENSG00000215428 Transcript ENST00000277491.7 protein_coding
- - - - - - - - - rs116972695 3310 1
- Clone_based_ensembl_gene - - - - - - -
0.0026 - - - - - - - - -
133270719 9:133270719-133270719 T upstream_gene_variant MODIFIER HMCN2
 ENSG00000148357 Transcript ENST00000480829.1 processed_transcript -
- - - - - - - - rs116972695 3310 1 -
HGNC 21293 - - - - - - 0.0026 - - -
- - - - - -
133270719 9:133270719-133270719 T non_coding_transcript_exon_variant
MODIFIER HMCN2 ENSG00000148357 Transcript ENST00000487727.2
processed_transcript 14/29 - - - 1983 - - - -
rs116972695 - 1 - HGNC 21293 - - - - - -
0.0026 - - - - - - - - -
133270719 9:133270719-133270719 T upstream_gene_variant MODIFIER
RN7SL665P ENSG00000264169 Transcript ENST00000578793.1 misc_RNA -
- - - - - - - - rs116972695 4934 1 -
HGNC 46681 - - - - - - 0.0026 - - -
- - - - - -