regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V1B1_chr2_70930900_70970431 | 70945699 | G | GATAT | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00558.hp1 others(59): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0009others(52): Show | 62 | 440 | 0.1409 | 4 | c.174 others(21): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70945701 | G | GAGAT | intron_variant | MODIFIER | HG03669.hp1 HG06807.hp1 NA18942.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0140a0003c0004t0001g0206a0003c0004t0001g0223 | 3 | 440 | 0.0068 | 4 | c.174 others(21): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70945701 | G | GATAT | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00733.hp1 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0006a0001c0002t0001a0001c0005t0001others(10): Show | a0001c0001t0006g0393a0001c0001t0006g0394a0001c0002t0001g0126others(30): Show | 33 | 440 | 0.0750 | 4 | c.174 others(21): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70950932 | A | ATTTT | intron_variant | MODIFIER | HG00408.hp2 HG01167.hp1 HG01169.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(6): Show | a0001c0001t0001g0010a0001c0001t0001g0142a0001c0002t0001g0109others(15): Show | 19 | 440 | 0.0432 | 4 | c.175 others(21): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70964114 | A | ATTTT | intron_variant | MODIFIER | HG03540.hp2 NA18939.hp1 NA18952.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0010a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0010g0023a0001c0002t0001g0056a0001c0002t0001g0097others(4): Show | 7 | 440 | 0.0159 | 4 | c.114 others(21): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70966177 | T | TATTA | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG01891.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0006others(2): Show | a0001c0001t0001a0001c0007t0001a0002c0006t0001others(2): Show | a0001c0001t0001g0024a0001c0001t0001g0026a0001c0001t0001g0027others(17): Show | 20 | 440 | 0.0455 | 4 | c.*10 others(15): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 747 | chr2 | TogoVar | ||||||
ATP6V1B2_chr8_20192381_20226696 | 20211762 | A | AAGTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(110): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0014others(59): Show | 113 | 402 | 0.2811 | 4 | c.705 others(17): Show |
ATP6V1B2 | ENSG00000147416.11 | transcript | ENST00000276390.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10727563 | C | CAAAT | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01496.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0007a0002c0002t0001others(6): Show | a0001c0001t0006g0101a0001c0001t0006g0102a0001c0001t0006g0104others(13): Show | 16 | 354 | 0.0452 | 4 | c.197 others(19): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10732967 | C | CAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(88): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0015a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(17): Show | a0001c0001t0001g0079a0001c0001t0001g0144a0001c0001t0001g0153others(87): Show | 91 | 354 | 0.2571 | 4 | c.197 others(21): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10773274 | A | ACACT | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02055.hp1 others(19): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0007a0002c0002t0003a0002c0002t0007others(4): Show | a0001c0001t0007g0237a0002c0002t0003g0215a0002c0002t0003g0224others(19): Show | 22 | 354 | 0.0622 | 4 | c.638 others(19): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10782829 | C | CAAAA | intron_variant | MODIFIER | HG01106.hp1 HG01496.hp2 HG02055.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0048a0001c0001t0001g0055others(7): Show | 10 | 354 | 0.0283 | 4 | c.119 others(21): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1D_chr14_67332872_67364804 | 67333700 | T | TTAAG | downstream_gene_variant | MODIFIER | NA18944.hp2 NA18947.hp2 NA18955.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0110others(2): Show | 9 | 348 | 0.0259 | 4 | c.*49 others(15): Show |
ATP6V1D | ENSG00000100554.12 | transcript | ENST00000216442.12 | protein_coding | 4171 | chr14 | TogoVar | ||||||
ATP6V1D_chr14_67332872_67364804 | 67342181 | A | AAAAT | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0042a0001c0001t0001g0171others(1): Show | 6 | 348 | 0.0172 | 4 | c.523 others(21): Show |
ATP6V1D | ENSG00000100554.12 | transcript | ENST00000216442.12 | protein_coding | 7/8 | chr14 | TogoVar | ||||||
ATP6V1D_chr14_67332872_67364804 | 67342557 | C | CTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(117): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0006others(64): Show | 120 | 348 | 0.3448 | 4 | c.523 others(19): Show |
ATP6V1D | ENSG00000100554.12 | transcript | ENST00000216442.12 | protein_coding | 7/8 | chr14 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17592800 | C | CTTTT | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0009 | a0001c0002t0006g0019a0001c0002t0006g0042a0001c0002t0006g0043others(5): Show | 9 | 370 | 0.0243 | 4 | c.619 others(17): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 8/8 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17596132 | A | AAAAT | intron_variant | MODIFIER | HG01891.hp2 HG03195.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0019a0001c0002t0006g0180a0001c0002t0006g0182 | 4 | 370 | 0.0108 | 4 | c.531 others(21): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 7/8 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17599577 | C | CAAAA | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01168.hp1 others(25): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0051a0001c0001t0001g0142a0001c0001t0002g0230others(25): Show | 28 | 370 | 0.0757 | 4 | c.435 others(19): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 6/8 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17604199 | C | CAGGA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00639.hp2 others(80): Show |
a0001a0003a0004 | a0001c0001a0003c0007a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0045a0001c0001t0001g0150a0001c0001t0001g0191others(76): Show | 83 | 370 | 0.2243 | 4 | c.277 others(21): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 4/8 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17614500 | T | TACAC | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00639.hp2 others(57): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0237others(53): Show | 60 | 370 | 0.1622 | 4 | c.100 others(21): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2/8 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17616034 | A | AAAAC | intron_variant | MODIFIER | HG01192.hp1 HG02109.hp1 HG02258.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0154a0001c0001t0002g0239a0001c0001t0003g0024others(11): Show | 15 | 370 | 0.0405 | 4 | c.100 others(21): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2/8 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17616062 | C | CAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02280.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0009 | a0001c0001t0001g0170a0001c0001t0003g0020a0001c0001t0003g0021others(13): Show | 18 | 370 | 0.0487 | 4 | c.100 others(21): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2/8 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17626325 | A | AAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00733.hp1 others(60): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(47): Show | 63 | 370 | 0.1703 | 4 | c.33+ others(19): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 1/8 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17629818 | T | TACAC | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02074.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0108a0001c0001t0001g0158a0001c0001t0001g0191others(13): Show | 16 | 370 | 0.0432 | 4 | c.-11 others(15): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 1070 | chr22 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46518490 | A | AACAC | intron_variant | MODIFIER | HG01255.hp1 HG02602.hp1 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0194a0001c0001t0001g0224a0001c0001t0004g0200 | 3 | 410 | 0.0073 | 4 | c.-10 others(23): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46518758 | T | TTGTG | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG01123.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0051a0001c0001t0001g0062a0001c0001t0001g0064others(17): Show | 20 | 410 | 0.0488 | 4 | c.-10 others(23): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46533203 | G | GTAGA | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG01081.hp1 others(6): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0004g0122a0001c0001t0004g0123a0001c0001t0005g0125others(4): Show | 9 | 410 | 0.0220 | 4 | c.-10 others(23): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46534768 | C | CCTTA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(355): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(258): Show | 358 | 410 | 0.8732 | 4 | c.-10 others(23): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46540436 | C | CAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(108): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0023a0001c0001t0001g0091a0001c0001t0001g0092others(89): Show | 111 | 410 | 0.2707 | 4 | c.-31 others(21): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
ATP6V1FNB_chr7_128861330_128877047 | 128861347 | C | CTTTT | upstream_gene_variant | MODIFIER | HG00639.hp1 HG02145.hp1 HG02258.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0004g0004a0001c0001t0007g0005a0001c0001t0011g0004others(2): Show | 19 | 442 | 0.0430 | 4 | c.-50 others(15): Show |
ATP6V1FNB | ENSG00000272899.4 | transcript | ENST00000609480.4 | protein_coding | 4982 | chr7 | TogoVar | ||||||
ATP6V1FNB_chr7_128861330_128877047 | 128861823 | A | ATTTT | upstream_gene_variant | MODIFIER | HG00609.hp1 HG02486.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006 | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0003g0003others(1): Show | 8 | 442 | 0.0181 | 4 | c.-45 others(15): Show |
ATP6V1FNB | ENSG00000272899.4 | transcript | ENST00000609480.4 | protein_coding | 4506 | chr7 | TogoVar | ||||||
ATP6V1FNB_chr7_128861330_128877047 | 128864862 | T | TAGAG | upstream_gene_variant | MODIFIER | HG02056.hp1 HG02129.hp2 HG03239.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009a0001c0001t0005g0014 | 14 | 442 | 0.0317 | 4 | c.-15 others(15): Show |
ATP6V1FNB | ENSG00000272899.4 | transcript | ENST00000609480.4 | protein_coding | 1467 | chr7 | TogoVar | ||||||
ATP6V1F_chr7_128857856_128870847 | 128861347 | C | CTTTT | upstream_gene_variant | MODIFIER | HG00639.hp1 HG02145.hp1 HG02258.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0008a0001c0001t0002g0015others(1): Show | 18 | 442 | 0.0407 | 4 | c.-15 others(15): Show |
ATP6V1F | ENSG00000128524.5 | transcript | ENST00000249289.5 | protein_coding | 1508 | chr7 | TogoVar | ||||||
ATP6V1F_chr7_128857856_128870847 | 128861823 | A | ATTTT | upstream_gene_variant | MODIFIER | HG00609.hp1 HG02486.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0002g0011 | 8 | 442 | 0.0181 | 4 | c.-10 others(15): Show |
ATP6V1F | ENSG00000128524.5 | transcript | ENST00000249289.5 | protein_coding | 1032 | chr7 | TogoVar | ||||||
ATP6V1F_chr7_128857856_128870847 | 128864862 | T | TAGAG | intron_variant | MODIFIER | HG02056.hp1 HG02129.hp2 HG03239.hp1 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006a0001c0002t0001g0038 | 15 | 442 | 0.0339 | 4 | c.159 others(19): Show |
ATP6V1F | ENSG00000128524.5 | transcript | ENST00000249289.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ATP6V1F_chr7_128857856_128870847 | 128869436 | C | CTAGG | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02615.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 3 | 442 | 0.0068 | 4 | c.*38 others(15): Show |
ATP6V1F | ENSG00000128524.5 | transcript | ENST00000249289.5 | protein_coding | 3590 | chr7 | TogoVar | ||||||
ATP6V1G1_chr9_114582769_114603879 | 114588510 | A | AGTGT | intron_variant | MODIFIER | HG00609.hp2 HG01175.hp1 HG01175.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0014a0001c0001t0001g0078others(11): Show | 32 | 420 | 0.0762 | 4 | c.82+ others(17): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ATP6V1G1_chr9_114582769_114603879 | 114596986 | C | CTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01257.hp1 HG01934.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004a0001c0001t0006g0018a0001c0001t0006g0033others(5): Show | 24 | 420 | 0.0571 | 4 | c.184 others(19): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ATP6V1G1_chr9_114582769_114603879 | 114598990 | G | GTTTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00597.hp2 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(36): Show | 76 | 420 | 0.1810 | 4 | c.*12 others(15): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 112 | chr9 | TogoVar | ||||||
ATP6V1G1_chr9_114582769_114603879 | 114599522 | C | CTTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01081.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018 | a0001c0001t0004g0011a0001c0001t0004g0053a0001c0001t0004g0131others(1): Show | 9 | 420 | 0.0214 | 4 | c.*17 others(15): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 644 | chr9 | TogoVar | ||||||
ATP6V1G3_chr1_198518222_198545680 | 198529195 | A | AATAT | intron_variant | MODIFIER | HG00735.hp1 HG02559.hp2 HG02615.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0023a0001c0001t0001g0083a0001c0001t0001g0102others(6): Show | 11 | 405 | 0.0272 | 4 | c.83- others(15): Show |
ATP6V1G3 | ENSG00000151418.12 | transcript | ENST00000367382.6 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53718384 | A | ATTTT | intron_variant | MODIFIER | HG00438.hp2 HG01070.hp1 HG01071.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0012a0001c0001t0002g0092a0001c0001t0002g0099others(12): Show | 15 | 286 | 0.0525 | 4 | c.139 others(23): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53798610 | A | AACAC | intron_variant | MODIFIER | HG01070.hp2 NA18944.hp1 NA18963.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0226a0001c0001t0002g0152a0001c0001t0002g0153others(2): Show | 5 | 286 | 0.0175 | 4 | c.678 others(21): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53819547 | C | CATAT | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01243.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0033others(17): Show | 20 | 286 | 0.0699 | 4 | c.307 others(21): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53819585 | T | TATAA | intron_variant | MODIFIER | HG01981.hp1 HG02809.hp1 NA18948.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0092a0001c0001t0002g0126others(5): Show | 8 | 286 | 0.0280 | 4 | c.307 others(21): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77944834 | G | GTATT | intron_variant | MODIFIER | HG00735.hp2 HG02559.hp2 HG02615.hp2 others(14): Show |
a0001a0008 | a0001c0001a0001c0008a0008c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0025a0001c0001t0001g0172a0001c0001t0001g0176others(14): Show | 17 | 233 | 0.0730 | 4 | c.-21 others(23): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77948059 | A | ATATT | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01074.hp1 others(20): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0022a0001c0001t0001g0041a0001c0001t0001g0088others(20): Show | 23 | 233 | 0.0987 | 4 | c.-21 others(23): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77948100 | T | TATTC | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02886.hp1 others(4): Show |
a0001a0005a0011 | a0001c0001a0005c0006a0011c0015 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(2): Show | a0001c0001t0001g0199a0001c0001t0008g0122a0001c0001t0008g0124others(4): Show | 7 | 233 | 0.0300 | 4 | c.-21 others(23): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77956724 | C | CTCCT | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 233 | 0.0043 | 4 | c.-21 others(23): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77956726 | C | CCTTT | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(59): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0001g0022a0001c0001t0001g0034a0001c0001t0001g0099others(59): Show | 62 | 233 | 0.2661 | 4 | c.-21 others(23): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77987444 | T | TTGTG | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01069.hp1 others(51): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0034a0001c0001t0001g0118a0001c0001t0001g0139others(51): Show | 54 | 233 | 0.2318 | 4 | c.121 others(19): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar |