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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS16_chr20_2835745_2871732 | 2842662 | A | ATAGATGT others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00544.hp2 others(88): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0002c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(66): Show |
91 | 394 | 0.2310 | 30 | c.53+ others(45): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2842706 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0046 | 1 | 343 | 0.0029 | 30 | c.53+ others(45): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69119336 | G | GTATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 HG02895.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0022 a0001c0001t0013g0274 |
3 | 333 | 0.0090 | 30 | c.-49 others(41): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 4841 | chr10 | TogoVar | |||||||
VPS26A_chr10_69119178_69179412 | 69119336 | G | GTATATAT others(23): Show |
upstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0086 | 1 | 331 | 0.0030 | 30 | c.-49 others(41): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 4841 | chr10 | TogoVar | |||||||
VPS26A_chr10_69119178_69179412 | 69137862 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0031 | 1 | 313 | 0.0032 | 30 | c.153 others(47): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26C_chr21_37218422_37272334 | 37255851 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02572.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0158 a0001c0001t0001g0244 a0001c0001t0005g0247 |
3 | 48 | 0.0625 | 30 | c.57+ others(47): Show |
VPS26C | ENSG00000157538.14 | transcript | ENST00000309117.11 | protein_coding | 1/7 | chr21 | TogoVar | |||||||
VPS35_chr16_46651132_46694178 | 46691958 | A | ACACACAC others(23): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 8 | 0.1250 | 30 | c.-28 others(41): Show |
VPS35 | ENSG00000069329.19 | transcript | ENST00000299138.12 | protein_coding | 2781 | chr16 | TogoVar | |||||||
VPS35_chr16_46651132_46694178 | 46691958 | A | ACACACAC others(23): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG03239.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0015 a0001c0001t0001g0048 a0001c0001t0001g0146 others(2): Show |
5 | 12 | 0.4167 | 30 | c.-28 others(41): Show |
VPS35 | ENSG00000069329.19 | transcript | ENST00000299138.12 | protein_coding | 2781 | chr16 | TogoVar | |||||||
VPS35_chr16_46651132_46694178 | 46691958 | A | ACACACAC others(23): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 8 | 0.1250 | 30 | c.-28 others(41): Show |
VPS35 | ENSG00000069329.19 | transcript | ENST00000299138.12 | protein_coding | 2781 | chr16 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38720526 | A | ATGTATGT others(23): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0112 | 1 | 253 | 0.0040 | 30 | c.*57 others(41): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2447 | chr7 | TogoVar | |||||||
VPS45_chr1_150062776_150150329 | 150088434 | A | AATAAATA others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 92 | 0.0109 | 30 | c.110 others(49): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150088434 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02809.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0124 a0002c0002t0001g0170 |
2 | 93 | 0.0215 | 30 | c.110 others(49): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS52_chr6_33245278_33276876 | 33263414 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0236 | 1 | 128 | 0.0078 | 30 | c.179 others(45): Show |
VPS52 | ENSG00000223501.9 | transcript | ENST00000445902.3 | protein_coding | 17/19 | chr6 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 662773 | G | GAAAGAAA others(23): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0011 | a0001c0011t0055 | a0001c0011t0055g0091 | 1 | 155 | 0.0065 | 30 | c.286 others(45): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 4/21 | chr17 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63970244 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00597.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(3): Show | a0001c0001t0001g0064 a0001c0001t0001g0109 a0001c0001t0001g0147 others(46): Show |
49 | 169 | 0.2899 | 30 | c.458 others(47): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 4/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63970272 | T | TAGATATA others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0296 a0001c0003t0003g0297 |
2 | 302 | 0.0066 | 30 | c.458 others(47): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 4/22 | chr2 | TogoVar | |||||||
VPS8_chr3_184807166_185057604 | 184842186 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0169 | 1 | 100 | 0.0100 | 30 | c.536 others(47): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184940270 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0018 a0004c0003t0001g0019 |
2 | 64 | 0.0313 | 30 | c.303 others(45): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 36/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184984194 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(45): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0010a0002c0002others(11): Show | a0001c0001t0002a0001c0010t0002a0002c0002t0001others(13): Show | a0001c0001t0002g0087 a0001c0001t0002g0100 a0001c0001t0002g0128 others(45): Show |
48 | 49 | 0.9796 | 30 | c.358 others(49): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 42/47 | chr3 | TogoVar | |||||||
VPS8_chr3_184807166_185057604 | 184984194 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01928.hp2 NA18957.hp1 others(2): Show |
a0002a0007a0019 | a0002c0002a0007c0013a0019c0038 | a0002c0002t0001a0007c0013t0004a0019c0038t0001 | a0002c0002t0001g0091 a0002c0002t0001g0210 a0002c0002t0001g0261 others(2): Show |
5 | 6 | 0.8333 | 30 | c.358 others(49): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 42/47 | chr3 | TogoVar | |||||||
VRK1_chr14_96792382_96886609 | 96808007 | C | CTCCGTCT others(23): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0091 |
3 | 276 | 0.0109 | 30 | c.-6+ others(47): Show |
VRK1 | ENSG00000100749.9 | transcript | ENST00000216639.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
VRK1_chr14_96792382_96886609 | 96808017 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0060 | 1 | 95 | 0.0105 | 30 | c.-6+ others(47): Show |
VRK1 | ENSG00000100749.9 | transcript | ENST00000216639.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58120184 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 125 | 0.0080 | 30 | c.544 others(47): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VSIG10L_chr19_51326541_51347139 | 51345756 | A | ACTGAGAT others(23): Show |
upstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0028 | a0001c0028t0002 | a0001c0028t0002g0107 | 1 | 447 | 0.0022 | 30 | c.-36 others(41): Show |
VSIG10L | ENSG00000186806.6 | transcript | ENST00000335624.5 | protein_coding | 3618 | chr19 | TogoVar | |||||||
VSIR_chr10_71742556_71778520 | 71759846 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0004 | a0001c0004t0020a0001c0004t0037a0001c0004t0058others(3): Show | a0001c0004t0020g0058 a0001c0004t0020g0249 a0001c0004t0020g0257 others(5): Show |
9 | 257 | 0.0350 | 30 | c.568 others(47): Show |
VSIR | ENSG00000107738.20 | transcript | ENST00000394957.8 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
VSIR_chr10_71742556_71778520 | 71760110 | C | CATATATG others(23): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01167.hp2 others(5): Show |
a0001a0003 | a0001c0004a0003c0005 | a0001c0004t0052a0003c0005t0001a0003c0005t0004others(1): Show | a0001c0004t0052g0055 a0003c0005t0001g0277 a0003c0005t0004g0023 others(1): Show |
8 | 424 | 0.0189 | 30 | c.568 others(45): Show |
VSIR | ENSG00000107738.20 | transcript | ENST00000394957.8 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
VSTM4_chr10_49009236_49120522 | 49009602 | G | GAAAACAA others(23): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01071.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0018 | a0001c0001t0015g0013 a0001c0001t0015g0167 a0001c0001t0016g0177 others(2): Show |
6 | 161 | 0.0373 | 30 | c.*10 others(43): Show |
VSTM4 | ENSG00000165633.13 | transcript | ENST00000332853.9 | protein_coding | 4633 | chr10 | TogoVar | |||||||
VSX2_chr14_74234449_74267738 | 74244907 | T | TGTGTGAG others(23): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 418 | 0.0024 | 30 | c.456 others(45): Show |
VSX2 | ENSG00000119614.3 | transcript | ENST00000261980.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
VSX2_chr14_74234449_74267738 | 74244959 | T | TGTGAGAG others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01255.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0030 a0001c0001t0008g0074 a0001c0001t0008g0119 others(1): Show |
5 | 268 | 0.0187 | 30 | c.456 others(45): Show |
VSX2 | ENSG00000119614.3 | transcript | ENST00000261980.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
VSX2_chr14_74234449_74267738 | 74244963 | T | TGTGAGAG others(23): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 418 | 0.0024 | 30 | c.456 others(45): Show |
VSX2 | ENSG00000119614.3 | transcript | ENST00000261980.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
VTA1_chr6_142142263_142229685 | 142181094 | A | AAAATATA others(23): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 53 | 0.0189 | 30 | c.412 others(47): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
VTA1_chr6_142142263_142229685 | 142181116 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0194 | 1 | 202 | 0.0050 | 30 | c.412 others(47): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
VTCN1_chr1_117138587_117215927 | 117157092 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG02647.hp1 NA19030.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 a0001c0001t0003g0190 a0001c0001t0003g0212 |
3 | 128 | 0.0234 | 30 | c.98- others(43): Show |
VTCN1 | ENSG00000134258.18 | transcript | ENST00000369458.8 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
VTI1A_chr10_112442215_112823744 | 112537311 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0030 | 1 | 24 | 0.0417 | 30 | c.343 others(45): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112546035 | T | TGTGTATA others(23): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 166 | 0.0060 | 30 | c.427 others(47): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112572667 | T | TCTCTACT others(23): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03209.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0099 a0001c0001t0001g0120 a0001c0001t0001g0166 others(1): Show |
4 | 166 | 0.0241 | 30 | c.427 others(49): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112618516 | T | TAGAGAGA others(23): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 125 | 0.0080 | 30 | c.428 others(49): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112618522 | T | TAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 71 | 0.0141 | 30 | c.428 others(49): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112618524 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 2 | 0.5000 | 30 | c.428 others(49): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20291359 | T | TTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0011 | a0011c0014 | a0011c0014t0015 | a0011c0014t0015g0154 | 1 | 58 | 0.0172 | 30 | c.-27 others(45): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA5B2_chr3_184224585_184247329 | 184235770 | C | CCATGTGT others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01175.hp2 others(4): Show |
a0006a0008a0011 | a0006c0009a0008c0013a0011c0011 | a0006c0009t0001a0008c0013t0001a0011c0011t0001 | a0006c0009t0001g0014 a0008c0013t0001g0014 a0011c0011t0001g0071 others(1): Show |
7 | 223 | 0.0314 | 30 | c.110 others(47): Show |
VWA5B2 | ENSG00000145198.15 | transcript | ENST00000691901.1 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VWA8_chr13_41561835_41966109 | 41573610 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 130 | 0.0077 | 30 | c.537 others(49): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 43/44 | chr13 | TogoVar | |||||||
VWC2L_chr2_214406054_214583976 | 214433159 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0086 | 1 | 78 | 0.0128 | 30 | c.391 others(47): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214561809 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02451.hp2 NA19009.hp1 NA19063.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 a0001c0001t0002g0037 a0001c0001t0002g0071 others(1): Show |
4 | 204 | 0.0196 | 30 | c.521 others(49): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49877481 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0190 | 1 | 88 | 0.0114 | 30 | c.827 others(49): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49877481 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0058 | a0002c0002t0058g0084 | 1 | 88 | 0.0114 | 30 | c.827 others(49): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49877481 | A | AAAAAATA others(23): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0047 | a0002c0002t0047g0209 | 1 | 88 | 0.0114 | 30 | c.827 others(49): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49877481 | A | AAAAAATA others(23): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01099.hp2 HG01255.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0041others(3): Show | a0001c0001t0001g0129 a0001c0001t0002g0147 a0001c0001t0002g0177 others(4): Show |
7 | 94 | 0.0745 | 30 | c.827 others(49): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWF_chr12_5943877_6129670 | 6056293 | T | TCCAGCCA others(23): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0108 | a0108c0188 | a0108c0188t0001 | a0108c0188t0001g0177 | 1 | 183 | 0.0055 | 30 | c.194 others(47): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 15/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6092606 | T | TTAGTTAG others(23): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0072 | a0072c0072 | a0072c0072t0001 | a0072c0072t0001g0044 | 1 | 281 | 0.0036 | 30 | c.657 others(47): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 6/51 | chr12 | TogoVar |