view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS13A_chr9_77172534_77426537 | 77411660 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01106.hp2 others(24): Show |
a0001a0005a0014 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0006a0001c0001t0007a0001c0002t0001others(5): Show | a0001c0001t0006g0111 a0001c0001t0007g0097 a0001c0001t0007g0132 others(24): Show |
27 | 113 | 0.2389 | 7 | c.947 others(26): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 71/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99303730 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG01884.hp1 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0107 a0001c0001t0002g0043 a0001c0001t0002g0062 others(8): Show |
11 | 57 | 0.1930 | 7 | c.282 others(28): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99326452 | C | CTTTTTTT | intron_variant | MODIFIER | HG02965.hp1 HG02965.hp2 HG03041.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0002c0003t0003a0002c0003t0008others(2): Show | a0001c0001t0001g0107 a0002c0003t0003g0111 a0002c0003t0008g0071 others(4): Show |
7 | 40 | 0.1750 | 7 | c.282 others(28): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99418528 | C | CCTTTCTT | intron_variant | MODIFIER | HG00140.hp1 HG02895.hp2 HG02897.hp1 others(1): Show |
a0003a0005a0006others(1): Show | a0003c0033a0005c0009a0006c0027others(1): Show | a0003c0033t0006a0005c0009t0006a0006c0027t0001others(1): Show | a0003c0033t0006g0134 a0005c0009t0006g0119 a0006c0027t0001g0019 others(1): Show |
4 | 130 | 0.0308 | 7 | c.308 others(28): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 21/61 | chr8 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99640043 | G | GAAGAGAA | intron_variant | MODIFIER | HG01261.hp1 NA18950.hp2 |
a0001 | a0001c0001a0001c0035 | a0001c0001t0001a0001c0035t0002 | a0001c0001t0001g0113 a0001c0035t0002g0104 |
2 | 127 | 0.0157 | 7 | c.522 others(26): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13C_chr15_61847389_62065447 | 61914878 | T | TAAAAAAA | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG02970.hp2 others(3): Show |
a0001a0006a0007 | a0001c0001a0006c0006a0007c0007others(1): Show | a0001c0001t0009a0006c0006t0005a0007c0007t0001others(2): Show | a0001c0001t0009g0026 a0006c0006t0005g0212 a0007c0007t0001g0175 others(3): Show |
6 | 122 | 0.0492 | 7 | c.844 others(24): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 61/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 62037440 | T | TTGTAAGA | intron_variant | MODIFIER | HG01070.hp1 HG01175.hp2 HG03831.hp2 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0020 a0005c0005t0004g0021 a0005c0005t0004g0022 others(1): Show |
4 | 350 | 0.0114 | 7 | c.188 others(24): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 3/84 | chr15 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12352965 | C | CAAAAAAA | intron_variant | MODIFIER | HG02735.hp1 HG02738.hp2 HG03486.hp1 others(2): Show |
a0001a0012 | a0001c0001a0012c0028 | a0001c0001t0002a0001c0001t0004a0012c0028t0013 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0043 others(2): Show |
5 | 23 | 0.2174 | 7 | c.943 others(24): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2854960 | A | ATTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(35): Show |
a0001a0002a0011 | a0001c0001a0002c0005a0011c0008 | a0001c0001t0001a0001c0001t0003a0002c0005t0004others(1): Show | a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0125 others(33): Show |
38 | 96 | 0.3958 | 7 | c.54- others(22): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VPS18_chr15_40889450_40908975 | 40905255 | G | GGCATCTT | downstream_gene_variant | MODIFIER | HG01891.hp1 HG03041.hp1 HG03139.hp1 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0019 | 3 | 404 | 0.0074 | 7 | c.*19 others(18): Show |
VPS18 | ENSG00000104142.11 | transcript | ENST00000220509.10 | protein_coding | 1281 | chr15 | TogoVar | |||||||
VPS26C_chr21_37218422_37272334 | 37255851 | A | ATTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG02148.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0238 a0001c0001t0001g0294 a0001c0001t0001g0303 others(9): Show |
13 | 58 | 0.2241 | 7 | c.57+ others(24): Show |
VPS26C | ENSG00000157538.14 | transcript | ENST00000309117.11 | protein_coding | 1/7 | chr21 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122267207 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG01884.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0228 a0001c0001t0001g0229 others(15): Show |
19 | 23 | 0.8261 | 7 | c.-80 others(16): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 714 | chr12 | TogoVar | |||||||
VPS35L_chr16_19550703_19706163 | 19674184 | C | CTTTTTCT | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02630.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0003 | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0174 others(6): Show |
9 | 158 | 0.0570 | 7 | c.236 others(26): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS37B_chr12_122860330_122901124 | 122893472 | C | CAGTGGAT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(252): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(195): Show |
255 | 264 | 0.9659 | 7 | c.111 others(24): Show |
VPS37B | ENSG00000139722.7 | transcript | ENST00000267202.7 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38720484 | T | TTATTATA | downstream_gene_variant | MODIFIER | HG01928.hp1 NA18967.hp1 NA19056.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0053 | a0001c0002t0002g0156 a0001c0002t0004g0174 a0001c0002t0053g0182 |
3 | 263 | 0.0114 | 7 | c.*57 others(18): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2489 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38720484 | T | TTATTTTA | downstream_gene_variant | MODIFIER | HG00558.hp2 HG02109.hp2 HG03831.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0003g0066 a0001c0001t0003g0255 a0001c0001t0003g0256 others(3): Show |
6 | 266 | 0.0226 | 7 | c.*57 others(18): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2489 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38723723 | C | CAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02559.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0010 | a0001c0001t0016a0001c0001t0055a0001c0003t0016others(1): Show | a0001c0001t0016g0061 a0001c0001t0016g0077 a0001c0001t0055g0087 others(3): Show |
6 | 77 | 0.0779 | 7 | c.*25 others(18): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 29/29 | 2522 | chr7 | TogoVar | ||||||
VPS41_chr7_38717974_38914191 | 38724599 | C | CTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02559.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0010 | a0001c0001t0016a0001c0001t0028a0001c0003t0016others(3): Show | a0001c0001t0016g0061 a0001c0001t0016g0077 a0001c0001t0028g0070 others(6): Show |
9 | 275 | 0.0327 | 7 | c.*16 others(18): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 29/29 | 1646 | chr7 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150128302 | T | TAAAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01175.hp2 others(53): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0004t0001a0003c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0019 others(51): Show |
56 | 67 | 0.8358 | 7 | c.162 others(28): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150128308 | A | AAAAAAAG | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02723.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(7): Show |
10 | 174 | 0.0575 | 7 | c.162 others(28): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150130198 | C | CACTTTTT | intron_variant | MODIFIER | HG02257.hp1 HG03486.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 others(1): Show |
4 | 117 | 0.0342 | 7 | c.162 others(28): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 14/14 | chr1 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 515956 | C | CTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 NA18987.hp1 NA19000.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0092a0001c0002t0052a0002c0003t0030others(3): Show | a0001c0001t0092g0145 a0001c0002t0052g0089 a0002c0003t0030g0169 others(4): Show |
7 | 76 | 0.0921 | 7 | c.*31 others(18): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 22/22 | 3171 | chr17 | TogoVar | ||||||
VPS54_chr2_63887150_64024428 | 64005089 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG01069.hp1 others(9): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0003a0002c0002t0001a0002c0002t0004others(1): Show | a0001c0003t0003g0303 a0002c0002t0001g0015 a0002c0002t0001g0016 others(9): Show |
12 | 37 | 0.3243 | 7 | c.-21 others(26): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 64010670 | T | TATTTAAG | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00733.hp2 others(44): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(6): Show | a0001c0001t0001g0014 a0001c0001t0001g0064 a0001c0001t0001g0065 others(44): Show |
47 | 302 | 0.1556 | 7 | c.-21 others(24): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
VPS8_chr3_184807166_185057604 | 184842186 | C | CAAAAAAA | intron_variant | MODIFIER | HG01256.hp1 HG01361.hp2 HG02257.hp1 others(10): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0004a0003c0016others(3): Show | a0002c0002t0001a0003c0004t0005a0003c0016t0001others(3): Show | a0002c0002t0001g0088 a0002c0002t0001g0233 a0002c0002t0001g0234 others(10): Show |
13 | 112 | 0.1161 | 7 | c.536 others(24): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS9D1_chr16_89702134_89725898 | 89721476 | C | CGCCCCTG | upstream_gene_variant | MODIFIER | HG01192.hp2 HG02258.hp1 HG02451.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0173 a0001c0001t0001g0175 others(12): Show |
17 | 428 | 0.0397 | 7 | c.-62 others(16): Show |
VPS9D1 | ENSG00000075399.14 | transcript | ENST00000389386.8 | protein_coding | 579 | chr16 | TogoVar | |||||||
VRK2_chr2_58041806_58164871 | 58151731 | G | GTTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG01261.hp2 HG01496.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0005 | a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0101 others(8): Show |
11 | 36 | 0.3056 | 7 | c.118 others(26): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRTN_chr14_74343471_74365008 | 74344733 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02897.hp2 others(4): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0013 | a0001c0001t0002a0001c0002t0007a0008c0013t0002 | a0001c0001t0002g0001 a0001c0001t0002g0042 a0001c0001t0002g0092 others(2): Show |
7 | 77 | 0.0909 | 7 | c.-39 others(18): Show |
VRTN | ENSG00000133980.5 | transcript | ENST00000256362.5 | protein_coding | 3737 | chr14 | TogoVar | |||||||
VSIG10_chr12_118058593_118109011 | 118078937 | T | TAAAAAAA | intron_variant | MODIFIER | HG02056.hp2 HG03041.hp2 NA18939.hp2 others(5): Show |
a0001a0002a0003 | a0001c0004a0001c0021a0002c0001others(3): Show | a0001c0004t0013a0001c0021t0003a0001c0021t0016others(5): Show | a0001c0004t0013g0307 a0001c0021t0003g0395 a0001c0021t0016g0353 others(5): Show |
8 | 228 | 0.0351 | 7 | c.925 others(22): Show |
VSIG10 | ENSG00000176834.14 | transcript | ENST00000359236.10 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
VSIG10_chr12_118058593_118109011 | 118087837 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00544.hp1 others(102): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0001c0008others(13): Show | a0001c0002t0003a0001c0004t0003a0001c0004t0009others(48): Show | a0001c0002t0003g0155 a0001c0004t0003g0106 a0001c0004t0003g0122 others(95): Show |
105 | 349 | 0.3009 | 7 | c.362 others(24): Show |
VSIG10 | ENSG00000176834.14 | transcript | ENST00000359236.10 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66043156 | C | CACACACA | upstream_gene_variant | MODIFIER | HG03704.hp1 HG03704.hp2 NA18948.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0004c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0004c0003t0001g0015 |
4 | 213 | 0.0188 | 7 | c.-31 others(18): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 3077 | chrX | TogoVar | |||||||
VSNL1_chr2_17535696_17662018 | 17592605 | A | AAAAGTAC | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00639.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(15): Show | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0168 others(43): Show |
47 | 230 | 0.2043 | 7 | c.162 others(22): Show |
VSNL1 | ENSG00000163032.12 | transcript | ENST00000295156.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VSTM1_chr19_54035825_54068897 | 54050817 | T | TAAAAACA | intron_variant | MODIFIER | HG03704.hp2 HG04115.hp1 HG04199.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0002g0301 others(1): Show |
4 | 438 | 0.0091 | 7 | c.394 others(22): Show |
VSTM1 | ENSG00000189068.11 | transcript | ENST00000338372.7 | protein_coding | 4/8 | chr19 | TogoVar | |||||||
VSTM2A_chr7_54537375_54576067 | 54561372 | T | TTTAAGAA | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01070.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0003g0004 a0001c0001t0003g0023 a0001c0001t0003g0038 others(32): Show |
48 | 380 | 0.1263 | 7 | c.635 others(24): Show |
VSTM2A | ENSG00000170419.11 | transcript | ENST00000402613.4 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
VSX2_chr14_74234449_74267738 | 74254784 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00558.hp2 others(88): Show |
a0001a0003a0007 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0132 a0001c0001t0001g0305 a0001c0001t0002g0002 others(76): Show |
91 | 172 | 0.5291 | 7 | c.580 others(24): Show |
VSX2 | ENSG00000119614.3 | transcript | ENST00000261980.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
VTA1_chr6_142142263_142229685 | 142181092 | A | ATATATAT | intron_variant | MODIFIER | HG01106.hp2 HG01981.hp2 HG02109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0072 others(5): Show |
8 | 302 | 0.0265 | 7 | c.412 others(24): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
VTA1_chr6_142142263_142229685 | 142181094 | A | AAATATAT | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00639.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0026others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0050 a0001c0001t0001g0051 others(17): Show |
22 | 74 | 0.2973 | 7 | c.412 others(24): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
VTA1_chr6_142142263_142229685 | 142181094 | A | ATATATAT | intron_variant | MODIFIER | HG00609.hp2 HG01167.hp1 HG02300.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(9): Show |
12 | 64 | 0.1875 | 7 | c.412 others(24): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
VTI1A_chr10_112442215_112823744 | 112656521 | A | ATTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG02040.hp1 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0002g0031 a0001c0001t0002g0032 others(2): Show |
5 | 67 | 0.0746 | 7 | c.428 others(26): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112757351 | A | ATTTTTTT | intron_variant | MODIFIER | HG01106.hp2 NA18977.hp2 NA18981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0063 others(2): Show |
5 | 25 | 0.2000 | 7 | c.561 others(26): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112811712 | A | AAAAAGAT | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02451.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0076 others(6): Show |
9 | 34 | 0.2647 | 7 | c.561 others(24): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | chr10 | TogoVar | |||||||
VTI1B_chr14_67642085_67679632 | 67642793 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00609.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(12): Show |
34 | 66 | 0.5152 | 7 | c.*85 others(18): Show |
VTI1B | ENSG00000100568.11 | transcript | ENST00000554659.6 | protein_coding | 4291 | chr14 | TogoVar | |||||||
VWA2_chr10_114234254_114299489 | 114236553 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG03041.hp2 others(4): Show |
a0003 | a0003c0003a0003c0007a0003c0023 | a0003c0003t0024a0003c0007t0014a0003c0007t0024others(1): Show | a0003c0003t0024g0003 a0003c0007t0014g0006 a0003c0007t0014g0007 others(4): Show |
7 | 191 | 0.0366 | 7 | c.-30 others(18): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2700 | chr10 | TogoVar | |||||||
VWA3A_chr16_22087541_22161964 | 22143122 | C | CCTGGGTG | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02109.hp1 others(9): Show |
a0002a0005a0011others(2): Show | a0002c0002a0005c0005a0011c0009others(2): Show | a0002c0002t0001a0002c0002t0002a0005c0005t0001others(3): Show | a0002c0002t0001g0005 a0002c0002t0001g0226 a0002c0002t0001g0235 others(9): Show |
12 | 292 | 0.0411 | 7 | c.259 others(24): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 25/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98245687 | A | AGTATTCT | intron_variant | MODIFIER | HG00140.hp1 HG01515.hp1 HG04228.hp2 |
a0012a0014 | a0012c0013a0014c0030 | a0012c0013t0002a0014c0030t0002 | a0012c0013t0002g0100 a0012c0013t0002g0135 a0014c0030t0002g0116 |
3 | 238 | 0.0126 | 7 | c.267 others(26): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20321113 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02647.hp1 others(4): Show |
a0010a0012a0024others(1): Show | a0010c0010a0012c0020a0024c0038others(1): Show | a0010c0010t0011a0012c0020t0013a0024c0038t0004others(1): Show | a0010c0010t0011g0049 a0010c0010t0011g0134 a0010c0010t0011g0136 others(4): Show |
7 | 93 | 0.0753 | 7 | c.966 others(24): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA8_chr13_41561835_41966109 | 41572933 | C | CTGGCCGG | intron_variant | MODIFIER | HG01175.hp1 HG02622.hp1 HG02895.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0004c0006t0002 | a0001c0001t0002g0007 a0001c0001t0002g0100 a0001c0001t0002g0175 others(3): Show |
6 | 245 | 0.0245 | 7 | c.537 others(26): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 43/44 | chr13 | TogoVar | |||||||
VWC2_chr7_49768638_49926950 | 49785188 | T | TATAATTA | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02965.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0008a0002c0002t0053others(5): Show | a0001c0001t0001g0008 a0001c0001t0008g0185 a0001c0001t0008g0186 others(6): Show |
9 | 254 | 0.0354 | 7 | c.696 others(24): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
VWC2_chr7_49768638_49926950 | 49875369 | C | CAAAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG02015.hp2 HG02055.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0042others(4): Show | a0001c0001t0002g0144 a0001c0001t0003g0120 a0001c0001t0003g0167 others(7): Show |
10 | 47 | 0.2128 | 7 | c.827 others(26): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWF_chr12_5943877_6129670 | 6057480 | T | TTTATTTA | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01074.hp1 others(4): Show |
a0007a0086a0094others(1): Show | a0007c0014a0007c0028a0007c0132others(3): Show | a0007c0014t0001a0007c0028t0001a0007c0132t0001others(3): Show | a0007c0014t0001g0218 a0007c0028t0001g0109 a0007c0028t0001g0173 others(4): Show |
7 | 71 | 0.0986 | 7 | c.172 others(24): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 14/51 | chr12 | TogoVar |