#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
117156459 1:117156459-117156459 T missense_variant MODERATE IGSF3
ENSG00000143061 Transcript ENST00000318837.6 protein_coding 3/11 -
- - 865 760 254 D/N Gat/Aat rs61786651,COSV59585203 -
-1 - HGNC 5950 - - - - deleterious(0.02)
probably_damaging(1) - - 0,1 0,1 - - - - -
-
117156459 1:117156459-117156459 T missense_variant MODERATE IGSF3
ENSG00000143061 Transcript ENST00000369483.1 protein_coding 4/12 -
- - 1465 760 254 D/N Gat/Aat rs61786651,COSV59585203 -
-1 - HGNC 5950 - - - - deleterious(0.02)
probably_damaging(1) - - 0,1 0,1 - - - - -
-
117156459 1:117156459-117156459 T missense_variant MODERATE IGSF3
ENSG00000143061 Transcript ENST00000369486.3 protein_coding 4/11 -
- - 1526 760 254 D/N Gat/Aat rs61786651,COSV59585203 -
-1 - HGNC 5950 - - - - deleterious(0.02)
probably_damaging(0.997) - - 0,1 0,1 - - - -
- -
117156459 1:117156459-117156459 T downstream_gene_variant MODIFIER IGSF3
ENSG00000143061 Transcript ENST00000481589.1 protein_coding - -
- - - - - - - rs61786651,COSV59585203 2427 -1
cds_end_NF HGNC 5950 - - - - - - - - 0,1
0,1 - - - - - -
145299805 1:145299805-145299805 C missense_variant MODERATE NBPF10
ENSG00000163386 Transcript ENST00000342960.5 protein_coding 6/84 -
- - 889 854 285 E/A gAg/gCg rs4143500,COSV61657108 -
1 - HGNC 31992 - - - - deleterious(0.03)
benign(0.076) 0.0357 - 0,1 0,1 - - - - -
-
145299805 1:145299805-145299805 C missense_variant MODERATE NBPF10
ENSG00000163386 Transcript ENST00000369338.1 protein_coding 2/16 -
- - 231 41 14 E/A gAg/gCg rs4143500,COSV61657108 -
1 - HGNC 31992 - - - - deleterious(0.02) benign(0)
0.0357 - 0,1 0,1 - - - - - -
145299805 1:145299805-145299805 C intron_variant MODIFIER NBPF10
ENSG00000163386 Transcript ENST00000369339.3 protein_coding - 3/16
- - - - - - - rs4143500,COSV61657108 - 1
- HGNC 31992 - - - - - - 0.0357 - 0,1
0,1 - - - - - -
145299805 1:145299805-145299805 C 3_prime_UTR_variant MODIFIER NBPF10
ENSG00000163386 Transcript ENST00000448873.2 protein_coding 6/19 -
- - 1254 - - - - rs4143500,COSV61657108 - 1
- HGNC 31992 - - - - - - 0.0357 - 0,1
0,1 - - - - - -
145299805 1:145299805-145299805 C
3_prime_UTR_variant,NMD_transcript_variant MODIFIER NBPF10
ENSG00000163386 Transcript ENST00000464433.2 nonsense_mediated_decay 6/19
- - - 1254 - - - - rs4143500,COSV61657108 -
1 - HGNC 31992 - - - - - - 0.0357 -
0,1 0,1 - - - - - -
145299805 1:145299805-145299805 C
3_prime_UTR_variant,NMD_transcript_variant MODIFIER RP11-458D21.5
 ENSG00000255168 Transcript ENST00000468030.1 nonsense_mediated_decay 11/23
- - - 2014 - - - - rs4143500,COSV61657108 -
1 - Clone_based_vega_gene - - - - - - -
0.0357 - 0,1 0,1 - - - - - -
145299805 1:145299805-145299805 C missense_variant,NMD_transcript_variant
MODERATE NBPF10 ENSG00000163386 Transcript ENST00000490598.2
nonsense_mediated_decay 6/47 - - - 889 854 285 E/A
gAg/gCg rs4143500,COSV61657108 - 1 - HGNC 31992 - -
- - deleterious(0.04) benign(0.073) 0.0357 - 0,1 0,1
- - - - - -
145299805 1:145299805-145299805 C upstream_gene_variant MODIFIER NBPF10
ENSG00000163386 Transcript ENST00000605176.1 protein_coding - -
- - - - - - - rs4143500,COSV61657108 1930 1
cds_start_NF HGNC 31992 - - - - - - 0.0357
- 0,1 0,1 - - - - - -
145299805 1:145299805-145299805 C regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00000945042 CTCF_binding_site - -
- - - - - - - rs4143500,COSV61657108 - -
- - - - - - - - - 0.0357 - 0,1
0,1 - - - - - -
145299805 1:145299805-145299805 C regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00001505140 promoter_flanking_region
- - - - - - - - - rs4143500,COSV61657108
- - - - - - - - - - - 0.0357
- 0,1 0,1 - - - - - -
145299805 1:145299805-145299805 C TF_binding_site_variant MODIFIER -
- MotifFeature ENSM00532934845 - - - - - -
- - - - rs4143500,COSV61657108 - -1 - - -
- - - - - - 0.0357 - 0,1 0,1 -
ENSPFM0566 13 Y -0.078 TEAD4::MAX
148343792 1:148343792-148343792 A missense_variant MODERATE NBPF20
ENSG00000203832 Transcript ENST00000369188.3 protein_coding 4/20 -
- - 374 295 99 V/F Gtt/Ttt rs200528112,COSV64994853
- -1 cds_end_NF HGNC 32000 - - - - deleterious(0)
possibly_damaging(0.804) - - 0,1 0,1 - - - -
- -
148343792 1:148343792-148343792 A missense_variant MODERATE NBPF20
ENSG00000203832 Transcript ENST00000369189.3 protein_coding 3/19 -
- - 845 70 24 V/F Gtt/Ttt rs200528112,COSV64994853
- -1 cds_end_NF HGNC 32000 - - - - deleterious(0)
possibly_damaging(0.904) - - 0,1 0,1 - - - -
- -
148343792 1:148343792-148343792 A missense_variant MODERATE NBPF20
ENSG00000203832 Transcript ENST00000369202.1 protein_coding 4/111 -
- - 493 295 99 V/F Gtt/Ttt rs200528112,COSV64994853
- -1 - HGNC 32000 - - - - deleterious(0)
possibly_damaging(0.782) - - 0,1 0,1 - - - -
- -
148343792 1:148343792-148343792 A missense_variant MODERATE NBPF20
ENSG00000203832 Transcript ENST00000414710.2 protein_coding 3/5 -
- - 468 295 99 V/F Gtt/Ttt rs200528112,COSV64994853
- -1 - HGNC 32000 - - - - deleterious(0.02)
possibly_damaging(0.804) - - 0,1 0,1 - - - -
- -
167517348 1:167517348-167517348 C missense_variant MODERATE CREG1
ENSG00000143162 Transcript ENST00000370509.4 protein_coding 2/4 -
- - 391 365 122 Y/C tAt/tGt rs781368173 - -1 -
HGNC 2351 - - - - tolerated(0.15) probably_damaging(0.915)
- - - - - - - - - -
167517348 1:167517348-167517348 C upstream_gene_variant MODIFIER CREG1
ENSG00000143162 Transcript ENST00000466652.1 processed_transcript -
- - - - - - - - rs781368173 1931 -1 -
HGNC 2351 - - - - - - - - - - -
- - - - -
180151343 1:180151343-180151343 T missense_variant MODERATE QSOX1
ENSG00000116260 Transcript ENST00000367600.5 protein_coding 6/13 -
- - 652 641 214 A/V gCg/gTg rs74997002 - 1 -
HGNC 9756 - - - - tolerated(0.14) benign(0.286) 0.0008
- - - - - - - - -
180151343 1:180151343-180151343 T missense_variant MODERATE QSOX1
ENSG00000116260 Transcript ENST00000367602.3 protein_coding 6/12 -
- - 715 641 214 A/V gCg/gTg rs74997002 - 1 -
HGNC 9756 - - - - tolerated(0.11) benign(0.021) 0.0008
- - - - - - - - -
180151343 1:180151343-180151343 T
3_prime_UTR_variant,NMD_transcript_variant MODIFIER QSOX1
ENSG00000116260 Transcript ENST00000392029.2 nonsense_mediated_decay 5/8
- - - 576 - - - - rs74997002 - 1 -
HGNC 9756 - - - - - - 0.0008 - - -
- - - - - -
201183430 1:201183430-201183430 T splice_donor_variant HIGH IGFN1
ENSG00000163395 Transcript ENST00000295591.8 protein_coding - 13/22
- - - - - - - rs976836478 - 1 - HGNC
24607 - - - - - - - - - - - -
- - - -
201183430 1:201183430-201183430 T splice_donor_variant HIGH IGFN1
ENSG00000163395 Transcript ENST00000335211.4 protein_coding - 13/23
- - - - - - - rs976836478 - 1 - HGNC
24607 - - - - - - - - - - - -
- - - -
201183430 1:201183430-201183430 T splice_donor_variant HIGH IGFN1
ENSG00000163395 Transcript ENST00000412892.1 protein_coding - 2/12
- - - - - - - rs976836478 - 1 cds_start_NF
HGNC 24607 - - - - - - - - - - -
- - - - -
201183430 1:201183430-201183430 T
splice_donor_variant,NMD_transcript_variant HIGH IGFN1 ENSG00000163395
Transcript ENST00000437879.2 nonsense_mediated_decay - 14/25 - -
- - - - - rs976836478 - 1 - HGNC 24607 -
- - - - - - - - - - - - -
- -
201183430 1:201183430-201183430 T splice_donor_variant HIGH IGFN1
ENSG00000163395 Transcript ENST00000451870.2 protein_coding - 14/16
- - - - - - - rs976836478 - 1 - HGNC
24607 - - - - - - - - - - - -
- - - -
201183430 1:201183430-201183430 T
splice_donor_variant,non_coding_transcript_variant HIGH IGFN1
ENSG00000163395 Transcript ENST00000473483.1 retained_intron - 2/11
- - - - - - - rs976836478 - 1 - HGNC
24607 - - - - - - - - - - - -
- - - -
201183430 1:201183430-201183430 T regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00000256153 CTCF_binding_site - -
- - - - - - - rs976836478 - - - -
- - - - - - - - - - - - -
- - - -
123892095 12:123892095-123892095 C missense_variant MODERATE SETD8
 ENSG00000183955 Transcript ENST00000330479.4 protein_coding 8/9 -
- - 1330 904 302 C/R Tgt/Cgt rs61955126 - 1 -
HGNC 29489 - - - - tolerated(0.36) benign(0.01) -
- - - - - - - - -
123892095 12:123892095-123892095 C missense_variant MODERATE SETD8
ENSG00000183955 Transcript ENST00000402868.3 protein_coding 8/8 -
- - 1330 904 302 C/R Tgt/Cgt rs61955126 - 1 -
HGNC 29489 - - - - tolerated(0.36) benign(0.01) -
- - - - - - - - -
123892095 12:123892095-123892095 C missense_variant MODERATE SETD8
ENSG00000183955 Transcript ENST00000437502.1 protein_coding 7/7 -
- - 881 877 293 C/R Tgt/Cgt rs61955126 - 1
cds_end_NF HGNC 29489 - - - - tolerated(0.25)
benign(0.114) - - - - - - - - - -
123892095 12:123892095-123892095 C
3_prime_UTR_variant,NMD_transcript_variant MODIFIER SETD8
ENSG00000183955 Transcript ENST00000437519.1 nonsense_mediated_decay 7/7
- - - 815 - - - - rs61955126 - 1 -
HGNC 29489 - - - - - - - - - - -
- - - - -
123892095 12:123892095-123892095 C downstream_gene_variant MODIFIER SETD8
ENSG00000183955 Transcript ENST00000461103.1 retained_intron - -
- - - - - - - rs61955126 2474 1 - HGNC
29489 - - - - - - - - - - - -
- - - -
123892095 12:123892095-123892095 C downstream_gene_variant MODIFIER SETD8
ENSG00000183955 Transcript ENST00000485469.1 processed_transcript -
- - - - - - - - rs61955126 2630 1 -
HGNC 29489 - - - - - - - - - - -
- - - - -
123892186 12:123892186-123892186 C missense_variant MODERATE SETD8
ENSG00000183955 Transcript ENST00000330479.4 protein_coding 8/9 -
- - 1421 995 332 L/P cTc/cCc rs61955127,COSV57862041 -
1 - HGNC 29489 - - - - deleterious(0)
probably_damaging(0.999) - - 0,1 0,1 - - - -
- -
123892186 12:123892186-123892186 C missense_variant MODERATE SETD8
ENSG00000183955 Transcript ENST00000402868.3 protein_coding 8/8 -
- - 1421 995 332 L/P cTc/cCc rs61955127,COSV57862041 -
1 - HGNC 29489 - - - - deleterious(0)
probably_damaging(0.999) - - 0,1 0,1 - - - -
- -
123892186 12:123892186-123892186 C downstream_gene_variant MODIFIER SETD8
ENSG00000183955 Transcript ENST00000437502.1 protein_coding - -
- - - - - - - rs61955127,COSV57862041 71 1
cds_end_NF HGNC 29489 - - - - - - - - 0,1
0,1 - - - - - -
123892186 12:123892186-123892186 C
3_prime_UTR_variant,NMD_transcript_variant MODIFIER SETD8
ENSG00000183955 Transcript ENST00000437519.1 nonsense_mediated_decay 7/7
- - - 906 - - - - rs61955127,COSV57862041 -
1 - HGNC 29489 - - - - - - - - 0,1
0,1 - - - - - -
123892186 12:123892186-123892186 C downstream_gene_variant MODIFIER SETD8
ENSG00000183955 Transcript ENST00000461103.1 retained_intron - -
- - - - - - - rs61955127,COSV57862041 2565 1
- HGNC 29489 - - - - - - - - 0,1 0,1
- - - - - -
123892186 12:123892186-123892186 C downstream_gene_variant MODIFIER SETD8
 ENSG00000183955 Transcript ENST00000485469.1 processed_transcript -
- - - - - - - - rs61955127,COSV57862041 2721
1 - HGNC 29489 - - - - - - - - 0,1
0,1 - - - - - -
20763218 13:20763218-20763218 C missense_variant MODERATE GJB2
ENSG00000165474 Transcript ENST00000382844.1 protein_coding 1/1 -
- - 702 503 168 K/R aAg/aGg rs200104362,CM071795 -
-1 - HGNC 4284 - - - - tolerated(0.15)
benign(0.052) 0.0016
uncertain_significance,conflicting_interpretations_of_pathogenicity -
1,1 24033266,17357124,20497192,19125024,20022641,17567889,19283857 -
- - - -
20763218 13:20763218-20763218 C missense_variant MODERATE GJB2
ENSG00000165474 Transcript ENST00000382848.4 protein_coding 2/2 -
- - 641 503 168 K/R aAg/aGg rs200104362,CM071795 -
-1 - HGNC 4284 - - - - tolerated(0.15)
benign(0.052) 0.0016
uncertain_significance,conflicting_interpretations_of_pathogenicity -
1,1 24033266,17357124,20497192,19125024,20022641,17567889,19283857 -
- - - -
20763218 13:20763218-20763218 C regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00000271048 CTCF_binding_site - -
- - - - - - - rs200104362,CM071795 - -
- - - - - - - - - 0.0016
uncertain_significance,conflicting_interpretations_of_pathogenicity -
1,1 24033266,17357124,20497192,19125024,20022641,17567889,19283857 -
- - - -
37900378 17:37900378-37900378 T missense_variant MODERATE GRB7
ENSG00000141738 Transcript ENST00000309156.4 protein_coding 7/15 -
- - 976 719 240 G/V gGt/gTt rs145986585 - 1 -
HGNC 4567 - - - - deleterious(0) possibly_damaging(0.646)
0.0008 - - - - - - - - -
37900378 17:37900378-37900378 T missense_variant MODERATE GRB7
ENSG00000141738 Transcript ENST00000309185.3 protein_coding 7/14 -
- - 969 719 240 G/V gGt/gTt rs145986585 - 1 -
HGNC 4567 - - - - deleterious(0) possibly_damaging(0.869)
0.0008 - - - - - - - - -
37900378 17:37900378-37900378 T missense_variant MODERATE GRB7
ENSG00000141738 Transcript ENST00000394204.1 protein_coding 6/13 -
- - 769 719 240 G/V gGt/gTt rs145986585 - 1 -
HGNC 4567 - - - - deleterious(0) possibly_damaging(0.869)
0.0008 - - - - - - - - -
37900378 17:37900378-37900378 T missense_variant MODERATE GRB7
ENSG00000141738 Transcript ENST00000394209.2 protein_coding 7/15 -
- - 984 719 240 G/V gGt/gTt rs145986585 - 1 -
HGNC 4567 - - - - deleterious(0) possibly_damaging(0.646)
0.0008 - - - - - - - - -
37900378 17:37900378-37900378 T missense_variant MODERATE GRB7
ENSG00000141738 Transcript ENST00000394211.3 protein_coding 7/15 -
- - 825 719 240 G/V gGt/gTt rs145986585 - 1 -
HGNC 4567 - - - - deleterious(0) possibly_damaging(0.646)
0.0008 - - - - - - - - -
37900378 17:37900378-37900378 T missense_variant MODERATE GRB7
ENSG00000141738 Transcript ENST00000445327.2 protein_coding 7/15 -
- - 923 788 263 G/V gGt/gTt rs145986585 - 1 -
HGNC 4567 - - - - deleterious(0) probably_damaging(0.945)
0.0008 - - - - - - - - -
37900378 17:37900378-37900378 T downstream_gene_variant MODIFIER GRB7
ENSG00000141738 Transcript ENST00000461756.1 retained_intron - -
 - - - - - - - rs145986585 513 1 - HGNC
4567 - - - - - - 0.0008 - - - -
- - - - -
37900378 17:37900378-37900378 T non_coding_transcript_exon_variant
MODIFIER GRB7 ENSG00000141738 Transcript ENST00000473071.1
retained_intron 3/3 - - - 164 - - - -
rs145986585 - 1 - HGNC 4567 - - - - - -
0.0008 - - - - - - - - -
37900378 17:37900378-37900378 T downstream_gene_variant MODIFIER GRB7
ENSG00000141738 Transcript ENST00000485182.1 retained_intron - -
- - - - - - - rs145986585 1071 1 - HGNC
4567 - - - - - - 0.0008 - - - -
- - - - -
37900378 17:37900378-37900378 T downstream_gene_variant MODIFIER GRB7
ENSG00000141738 Transcript ENST00000577695.1 protein_coding - -
- - - - - - - rs145986585 1203 1 cds_end_NF
HGNC 4567 - - - - - - 0.0008 - - -
- - - - - -
37900378 17:37900378-37900378 T downstream_gene_variant MODIFIER GRB7
ENSG00000141738 Transcript ENST00000578702.1 processed_transcript -
- - - - - - - - rs145986585 22 1 -
HGNC 4567 - - - - - - 0.0008 - - -
- - - - - -
37900378 17:37900378-37900378 T downstream_gene_variant MODIFIER GRB7
ENSG00000141738 Transcript ENST00000583813.1 nonsense_mediated_decay -
- - - - - - - - rs145986585 844 1 -
HGNC 4567 - - - - - - 0.0008 - - -
- - - - - -
37900378 17:37900378-37900378 T downstream_gene_variant MODIFIER GRB7
ENSG00000141738 Transcript ENST00000584053.1 retained_intron - -
- - - - - - - rs145986585 1231 1 - HGNC
4567 - - - - - - 0.0008 - - - -
- - - - -
37900378 17:37900378-37900378 T non_coding_transcript_exon_variant
MODIFIER GRB7 ENSG00000141738 Transcript ENST00000584819.1
retained_intron 6/7 - - - 1012 - - - -
rs145986585 - 1 - HGNC 4567 - - - - - -
0.0008 - - - - - - - - -
38100448 17:38100448-38100448 C missense_variant MODERATE LRRC3C
ENSG00000204913 Transcript ENST00000377924.4 protein_coding 2/2 -
- - 339 289 97 G/R Ggt/Cgt rs145974830 - 1 -
HGNC 40034 - - - - deleterious(0.04) probably_damaging(1)
0.0008 - - - - - - - - -
38100448 17:38100448-38100448 C downstream_gene_variant MODIFIER RP11-
387H17.4 ENSG00000264968 Transcript ENST00000582263.1 lincRNA - -
- - - - - - - rs145974830 4594 1 -
Clone_based_vega_gene - - - - - - - 0.0008
- - - - - - - - -
38100448 17:38100448-38100448 C regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00001891848 enhancer - - -
- - - - - - rs145974830 - - - - -
- - - - - - 0.0008 - - - - -
- - - -
49237401 17:49237401-49237401 A missense_variant MODERATE NME1
ENSG00000239672 Transcript ENST00000013034.3 protein_coding 4/6 -
- - 471 262 88 G/S Ggc/Agc rs767211119,COSV50146920
- 1 - HGNC 7849 - - - - tolerated(0.19)
benign(0.347) - - 0,1 0,1 - - - - - -
49237401 17:49237401-49237401 A missense_variant MODERATE NME1
 ENSG00000239672 Transcript ENST00000336097.3 protein_coding 4/6 -
- - 498 262 88 G/S Ggc/Agc rs767211119,COSV50146920
- 1 - HGNC 7849 - - - - tolerated(0.19)
benign(0.347) - - 0,1 0,1 - - - - - -
49237401 17:49237401-49237401 A missense_variant MODERATE NME2
ENSG00000011052 Transcript ENST00000376392.6 protein_coding 3/7 -
- - 250 187 63 G/S Ggc/Agc rs767211119,COSV50146920
- 1 - HGNC 7850 - - - - tolerated(0.16)
benign(0.209) - - 0,1 0,1 - - - - - -
49237401 17:49237401-49237401 A missense_variant MODERATE NME2
ENSG00000011052 Transcript ENST00000393193.2 protein_coding 3/8 -
- - 264 187 63 G/S Ggc/Agc rs767211119,COSV50146920
- 1 - HGNC 7850 - - - - tolerated(0.23)
benign(0.025) - - 0,1 0,1 - - - - - -
49237401 17:49237401-49237401 A missense_variant MODERATE NME1
ENSG00000239672 Transcript ENST00000393196.3 protein_coding 3/5 -
- - 318 187 63 G/S Ggc/Agc rs767211119,COSV50146920
- 1 - HGNC 7849 - - - - tolerated(0.19)
benign(0.19) - - 0,1 0,1 - - - - - -
49237401 17:49237401-49237401 A missense_variant MODERATE NME1-NME2
ENSG00000243678 Transcript ENST00000393198.3 protein_coding 3/8 -
- - 295 187 63 G/S Ggc/Agc rs767211119,COSV50146920
- 1 - HGNC 33531 - - - - tolerated(0.23)
benign(0.025) - - 0,1 0,1 - - - - - -
49237401 17:49237401-49237401 A downstream_gene_variant MODIFIER NME1
ENSG00000239672 Transcript ENST00000456492.1 protein_coding - -
- - - - - - - rs767211119,COSV50146920 4281
1 cds_end_NF HGNC 7849 - - - - - - - -
0,1 0,1 - - - - - -
49237401 17:49237401-49237401 A downstream_gene_variant MODIFIER NME1
ENSG00000239672 Transcript ENST00000465188.1 retained_intron - -
- - - - - - - rs767211119,COSV50146920 3977
1 - HGNC 7849 - - - - - - - - 0,1
0,1 - - - - - -
49237401 17:49237401-49237401 A missense_variant,NMD_transcript_variant
MODERATE NME1 ENSG00000239672 Transcript ENST00000475573.1
nonsense_mediated_decay 3/5 - - - 257 187 63 G/S
Ggc/Agc rs767211119,COSV50146920 - 1 - HGNC 7849 -
- - - tolerated(0.16) possibly_damaging(0.477) - -
0,1 0,1 - - - - - -
49237401 17:49237401-49237401 A missense_variant MODERATE NME1
ENSG00000239672 Transcript ENST00000480143.1 protein_coding 4/5 -
- - 496 262 88 G/S Ggc/Agc rs767211119,COSV50146920
- 1 - HGNC 7849 - - - - tolerated(0.21)
benign(0.082) - - 0,1 0,1 - - - - - -
49237401 17:49237401-49237401 A downstream_gene_variant MODIFIER NME1
ENSG00000239672 Transcript ENST00000487481.1 retained_intron - -
- - - - - - - rs767211119,COSV50146920 3494
1 - HGNC 7849 - - - - - - - - 0,1
0,1 - - - - - -
49237401 17:49237401-49237401 A missense_variant MODERATE NME1
ENSG00000239672 Transcript ENST00000511355.1 protein_coding 3/4 -
- - 273 187 63 G/S Ggc/Agc rs767211119,COSV50146920
- 1 - HGNC 7849 - - - - tolerated(0.16)
possibly_damaging(0.477) - - 0,1 0,1 - - - -
- -
49237401 17:49237401-49237401 A non_coding_transcript_exon_variant
MODIFIER NME1 ENSG00000239672 Transcript ENST00000512768.1
retained_intron 4/4 - - - 494 - - - -
 rs767211119,COSV50146920 - 1 - HGNC 7849 - - -
- - - - - 0,1 0,1 - - - - - -
49237401 17:49237401-49237401 A missense_variant MODERATE NME2
ENSG00000011052 Transcript ENST00000555572.1 protein_coding 4/9 -
- - 438 262 88 G/S Ggc/Agc rs767211119,COSV50146920
- 1 - HGNC 7850 - - - - tolerated(0.2)
benign(0.025) - - 0,1 0,1 - - - - - -
49237401 17:49237401-49237401 A missense_variant MODERATE NME1-NME2
ENSG00000243678 Transcript ENST00000608447.1 protein_coding 4/9 -
- - 438 262 88 G/S Ggc/Agc rs767211119,COSV50146920
- 1 - HGNC 33531 - - - - tolerated(0.2)
benign(0.025) - - 0,1 0,1 - - - - - -
3746628 19:3746628-3746628 A missense_variant MODERATE TJP3
ENSG00000105289 Transcript ENST00000262968.9 protein_coding 16/20 -
- - 2255 2255 752 R/H cGc/cAc rs142067032 - 1 -
HGNC 11829 - - - - deleterious(0.01) probably_damaging(0.947)
0.0002 - - - - - - - - -
3746628 19:3746628-3746628 A downstream_gene_variant MODIFIER APBA3
ENSG00000011132 Transcript ENST00000316757.3 protein_coding - -
- - - - - - - rs142067032 4250 -1 - HGNC
580 - - - - - - 0.0002 - - - -
- - - - -
3746628 19:3746628-3746628 A missense_variant MODERATE TJP3
ENSG00000105289 Transcript ENST00000382008.3 protein_coding 17/21 -
- - 2381 2198 733 R/H cGc/cAc rs142067032 - 1 -
HGNC 11829 - - - - deleterious(0.01) possibly_damaging(0.88)
0.0002 - - - - - - - - -
3746628 19:3746628-3746628 A missense_variant MODERATE TJP3
ENSG00000105289 Transcript ENST00000539908.2 protein_coding 16/20 -
- - 2167 2048 683 R/H cGc/cAc rs142067032 - 1 -
HGNC 11829 - - - - deleterious(0.01) possibly_damaging(0.703)
0.0002 - - - - - - - - -
3746628 19:3746628-3746628 A missense_variant MODERATE TJP3
ENSG00000105289 Transcript ENST00000541714.2 protein_coding 17/21 -
- - 2618 2156 719 R/H cGc/cAc rs142067032 - 1 -
HGNC 11829 - - - - deleterious(0.01) possibly_damaging(0.703)
0.0002 - - - - - - - - -
3746628 19:3746628-3746628 A upstream_gene_variant MODIFIER TJP3
ENSG00000105289 Transcript ENST00000586032.1 nonsense_mediated_decay -
- - - - - - - - rs142067032 13 1
cds_start_NF HGNC 11829 - - - - - - 0.0002
- - - - - - - - -
3746628 19:3746628-3746628 A downstream_gene_variant MODIFIER APBA3
ENSG00000011132 Transcript ENST00000586991.1 retained_intron - -
- - - - - - - rs142067032 4620 -1 - HGNC
580 - - - - - - 0.0002 - - - -
- - - - -
3746628 19:3746628-3746628 A upstream_gene_variant MODIFIER TJP3
ENSG00000105289 Transcript ENST00000587641.1 processed_transcript -
- - - - - - - - rs142067032 2984 1 -
HGNC 11829 - - - - - - 0.0002 - - -
- - - - - -
3746628 19:3746628-3746628 A missense_variant MODERATE TJP3
ENSG00000105289 Transcript ENST00000587686.1 protein_coding 16/20 -
- - 2213 2213 738 R/H cGc/cAc rs142067032 - 1 -
HGNC 11829 - - - - deleterious(0.01) possibly_damaging(0.755)
0.0002 - - - - - - - - -
3746628 19:3746628-3746628 A downstream_gene_variant MODIFIER APBA3
ENSG00000011132 Transcript ENST00000588984.1 retained_intron - -
 - - - - - - - rs142067032 4189 -1 - HGNC
580 - - - - - - 0.0002 - - - -
- - - - -
3746628 19:3746628-3746628 A missense_variant MODERATE TJP3
ENSG00000105289 Transcript ENST00000589378.1 protein_coding 17/21 -
- - 2339 2183 728 R/H cGc/cAc rs142067032 - 1 -
HGNC 11829 - - - - deleterious(0.01) benign(0.031) 0.0002
- - - - - - - - -
3746628 19:3746628-3746628 A downstream_gene_variant MODIFIER APBA3
ENSG00000011132 Transcript ENST00000590064.1 retained_intron - -
- - - - - - - rs142067032 4249 -1 - HGNC
580 - - - - - - 0.0002 - - - -
- - - - -
3746628 19:3746628-3746628 A non_coding_transcript_exon_variant
MODIFIER TJP3 ENSG00000105289 Transcript ENST00000591493.1
retained_intron 3/5 - - - 589 - - - -
rs142067032 - 1 - HGNC 11829 - - - - - -
0.0002 - - - - - - - - -
3746628 19:3746628-3746628 A downstream_gene_variant MODIFIER APBA3
ENSG00000011132 Transcript ENST00000591678.1 retained_intron - -
- - - - - - - rs142067032 4436 -1 - HGNC
580 - - - - - - 0.0002 - - - -
- - - - -
8400551 19:8400551-8400551 G missense_variant MODERATE KANK3
ENSG00000186994 Transcript ENST00000330915.3 protein_coding 3/11 -
- - 226 160 54 E/Q Gag/Cag rs571117304 - -1 -
HGNC 24796 - - - - deleterious(0.01) possibly_damaging(0.9)
0.0008 - - - - - - - - -
8400551 19:8400551-8400551 G upstream_gene_variant MODIFIER KANK3
ENSG00000186994 Transcript ENST00000593331.1 retained_intron - -
- - - - - - - rs571117304 885 -1 - HGNC
24796 - - - - - - 0.0008 - - - -
- - - - -
8400551 19:8400551-8400551 G missense_variant MODERATE KANK3
ENSG00000186994 Transcript ENST00000593649.1 protein_coding 3/11 -
- - 226 160 54 E/Q Gag/Cag rs571117304 - -1 -
HGNC 24796 - - - - deleterious(0.01) probably_damaging(0.939)
0.0008 - - - - - - - - -
8400551 19:8400551-8400551 G intron_variant MODIFIER KANK3
ENSG00000186994 Transcript ENST00000595639.1 protein_coding - 2/5
- - - - - - - rs571117304 - -1 cds_end_NF
HGNC 24796 - - - - - - 0.0008 - - -
- - - - - -
8400551 19:8400551-8400551 G regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00001155403 CTCF_binding_site - -
- - - - - - - rs571117304 - - - -
- - - - - - - 0.0008 - - - -
- - - - -
8400551 19:8400551-8400551 G regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00001908221 promoter - - -
- - - - - - rs571117304 - - - - -
- - - - - - 0.0008 - - - - -
- - - -
9048962 19:9048962-9048962 T missense_variant MODERATE MUC16
ENSG00000181143 Transcript ENST00000397910.4 protein_coding 5/84 -
- - 32873 32669 10890 S/N aGt/aAt rs759263928 - -1 -
HGNC 15582 - - - - tolerated_low_confidence(0.13)
benign(0.006) - - - - - - - - - -
3726083 2:3726083-3726083 C missense_variant MODERATE ALLC
 ENSG00000151360 Transcript ENST00000252505.3 protein_coding 4/12 -
- - 272 110 37 H/P cAt/cCt rs115017990 - 1 -
HGNC 17377 - - - - tolerated(0.05) benign(0.275) 0.0020
- - - - - - - - -
175346605 2:175346605-175346605 T missense_variant MODERATE GPR155
ENSG00000163328 Transcript ENST00000295500.4 protein_coding 3/17 -
- - 425 80 27 G/E gGa/gAa rs377356864 - -1 -
HGNC 22951 - - - - tolerated_low_confidence(0.06)
benign(0.01) - - - - - - - - - -
175346605 2:175346605-175346605 T missense_variant MODERATE GPR155
ENSG00000163328 Transcript ENST00000392551.2 protein_coding 3/17 -
- - 379 80 27 G/E gGa/gAa rs377356864 - -1 -
HGNC 22951 - - - - tolerated_low_confidence(0.06)
benign(0.01) - - - - - - - - - -
175346605 2:175346605-175346605 T missense_variant MODERATE GPR155
ENSG00000163328 Transcript ENST00000392552.2 protein_coding 2/16 -
- - 319 80 27 G/E gGa/gAa rs377356864 - -1 -
HGNC 22951 - - - - tolerated_low_confidence(0.06)
benign(0.01) - - - - - - - - - -
175346605 2:175346605-175346605 T downstream_gene_variant MODIFIER GPR155
ENSG00000163328 Transcript ENST00000497620.1 processed_transcript -
- - - - - - - - rs377356864 996 -1 -
HGNC 22951 - - - - - - - - - - -
- - - - -
219676989 2:219676989-219676989 A missense_variant MODERATE CYP27A1
ENSG00000135929 Transcript ENST00000258415.4 protein_coding 3/9 -
- - 918 491 164 R/Q cGg/cAg rs148417330 - 1 -
HGNC 2605 - - - - deleterious(0) probably_damaging(0.981)
- uncertain_significance - 1 - - - - - -
219676989 2:219676989-219676989 A missense_variant MODERATE CYP27A1
ENSG00000135929 Transcript ENST00000411688.1 protein_coding 3/5 -
- - 344 209 70 R/Q cGg/cAg rs148417330 - 1
cds_end_NF HGNC 2605 - - - - deleterious(0.01)
probably_damaging(0.981) - uncertain_significance - 1 -
- - - - -
219676989 2:219676989-219676989 A synonymous_variant,NMD_transcript_variant
LOW CYP27A1 ENSG00000135929 Transcript ENST00000445971.1
nonsense_mediated_decay 2/5 - - - 330 300 100 A
gcG/gcA rs148417330 - 1 - HGNC 2605 - - - -
- - - uncertain_significance - 1 - - - -
- -
219676989 2:219676989-219676989 A non_coding_transcript_exon_variant
MODIFIER CYP27A1 ENSG00000135929 Transcript ENST00000466602.1
retained_intron 2/3 - - - 309 - - - -
rs148417330 - 1 - HGNC 2605 - - - - - -
- uncertain_significance - 1 - - - - - -
219676989 2:219676989-219676989 A non_coding_transcript_exon_variant
MODIFIER CYP27A1 ENSG00000135929 Transcript ENST00000494263.1
retained_intron 3/7 - - - 925 - - - -
rs148417330 - 1 - HGNC 2605 - - - - - -
- uncertain_significance - 1 - - - - - -
145895608 5:145895608-145895608 C downstream_gene_variant MODIFIER TCERG1
ENSG00000113649 Transcript ENST00000296702.5 protein_coding - -
- - - - - - - rs144066680 4084 1 - HGNC
15630 - - - - - - 0.0006 - - - -
- - - - -
145895608 5:145895608-145895608 C missense_variant MODERATE GPR151
ENSG00000173250 Transcript ENST00000311104.2 protein_coding 1/1 -
- - 146 69 23 F/L ttT/ttG rs144066680 - -1 -
 HGNC 23624 - - - - deleterious(0.02) possibly_damaging(0.661)
0.0006 - - - - - - - - -
145895608 5:145895608-145895608 C downstream_gene_variant MODIFIER TCERG1
ENSG00000113649 Transcript ENST00000506524.1 retained_intron - -
- - - - - - - rs144066680 4537 1 - HGNC
15630 - - - - - - 0.0006 - - - -
- - - - -
145895608 5:145895608-145895608 C downstream_gene_variant MODIFIER TCERG1
ENSG00000113649 Transcript ENST00000511077.1 retained_intron - -
- - - - - - - rs144066680 4540 1 - HGNC
15630 - - - - - - 0.0006 - - - -
- - - - -
145895608 5:145895608-145895608 C regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00001344004 enhancer - - -
- - - - - - rs144066680 - - - - -
- - - - - - 0.0006 - - - - -
- - - -
44046934 7:44046934-44046934 A missense_variant MODERATE SPDYE1
ENSG00000136206 Transcript ENST00000258704.3 protein_coding 5/7 -
- - 837 700 234 G/R Ggg/Agg rs200388629,COSV51669344
- 1 - HGNC 16408 - - - - deleterious(0.05)
benign(0.098) - - 0,1 0,1 - - - - - -
44046934 7:44046934-44046934 A
intron_variant,non_coding_transcript_variant MODIFIER POLR2J4
ENSG00000214783 Transcript ENST00000422304.1 processed_transcript -
3/8 - - - - - - - rs200388629,COSV51669344
- -1 - HGNC 28195 - - - - - - - -
0,1 0,1 - - - - - -
44046934 7:44046934-44046934 A
intron_variant,non_coding_transcript_variant MODIFIER POLR2J4
ENSG00000214783 Transcript ENST00000427076.1 processed_transcript -
4/15 - - - - - - - rs200388629,COSV51669344
- -1 - HGNC 28195 - - - - - - - -
0,1 0,1 - - - - - -
44046934 7:44046934-44046934 A

splice_polypyrimidine_tract_variant,splice_region_variant,intron_variant,non_coding
_transcript_variant LOW AC004951.6 ENSG00000228434 Transcript
ENST00000447643.1 lincRNA - 1/2 - - - - - -
- rs200388629,COSV51669344 - -1 - Clone_based_vega_gene
- - - - - - - - - 0,1 0,1 - -
- - - -
44046934 7:44046934-44046934 A
intron_variant,non_coding_transcript_variant MODIFIER RP5-1165K10.2
ENSG00000273432 Transcript ENST00000454572.1 processed_transcript -
3/8 - - - - - - - rs200388629,COSV51669344
- -1 - Clone_based_vega_gene - - - - - -
- - - 0,1 0,1 - - - - - -