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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TRDN_chr6_123211339_123641950 | 123266130 | TTATAATA others(54): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp2 |
a0009a0011 | a0009c0011a0011c0017 | a0009c0011t0004a0011c0017t0002 | a0009c0011t0004g0131 a0011c0017t0002g0028 |
2 | 152 | 0.0132 | -61 | c.178 others(78): Show |
TRDN | ENSG00000186439.15 | transcript | ENST00000334268.9 | protein_coding | 32/40 | chr6 | TogoVar | |||||||
TRPC7_chr5_136207745_136370545 | 136325704 | GAGGCCAA others(54): Show |
G | intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0234 | 1 | 258 | 0.0039 | -61 | c.781 others(78): Show |
TRPC7 | ENSG00000069018.19 | transcript | ENST00000513104.6 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107761556 | CATCCTAT others(54): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 216 | 0.0046 | -61 | c.320 others(80): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142253465 | GGTAGGGC others(54): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(182): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0013others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(182): Show |
185 | 238 | 0.7773 | -61 | c.144 others(82): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142390727 | GGGGGACT others(54): Show |
G | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 238 | 0.0042 | -61 | c.-40 others(80): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
TSPAN4_chr11_837852_872111 | 845328 | TGTCCTCT others(54): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 394 | 0.0025 | -61 | c.-11 others(80): Show |
TSPAN4 | ENSG00000214063.12 | transcript | ENST00000397397.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TTF1_chr9_132370548_132411840 | 132377392 | GGTGTGAG others(54): Show |
G | intron_variant | MODIFIER | NA19063.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0240 | 1 | 400 | 0.0025 | -61 | c.246 others(80): Show |
TTF1 | ENSG00000125482.13 | transcript | ENST00000334270.3 | protein_coding | 10/10 | chr9 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238911753 | ATGCACAC others(54): Show |
A | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00673.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0086 a0001c0001t0001g0126 a0001c0001t0001g0312 others(26): Show |
30 | 338 | 0.0888 | -61 | c.*19 others(72): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1220 | chr2 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238911757 | ACACCACA others(54): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 a0001c0001t0001g0330 |
2 | 338 | 0.0059 | -61 | c.*19 others(72): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1224 | chr2 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238911778 | ACACACAC others(54): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(69): Show |
73 | 338 | 0.2160 | -61 | c.*19 others(72): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1245 | chr2 | TogoVar | |||||||
TYMS_chr18_652653_678578 | 667556 | TGGTGATG others(54): Show |
T | intron_variant | MODIFIER | HG02300.hp1 NA18975.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0412 a0001c0002t0001g0436 |
2 | 482 | 0.0042 | -61 | c.455 others(78): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
UBE3A_chr15_25328728_25444024 | 25412701 | TAAAGAAA others(54): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0147 | 1 | 298 | 0.0034 | -61 | c.-16 others(78): Show |
UBE3A | ENSG00000114062.22 | transcript | ENST00000648336.2 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
UBE4B_chr1_10027958_10186239 | 10178845 | GATTTCTT others(54): Show |
G | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0132 | 1 | 222 | 0.0045 | -61 | c.370 others(76): Show |
UBE4B | ENSG00000130939.20 | transcript | ENST00000343090.11 | protein_coding | 26/27 | chr1 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63941959 | TGGGTGTG others(54): Show |
T | intron_variant | MODIFIER | HG01952.hp2 HG02723.hp2 HG02738.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0093 a0001c0001t0001g0186 a0001c0001t0001g0187 others(5): Show |
8 | 356 | 0.0225 | -61 | c.924 others(76): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 8/14 | chr20 | TogoVar | |||||||
UNC5A_chr5_176805559_176885898 | 176863746 | TCCTCCTC others(54): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03139.hp2 HG03195.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0010a0001c0004t0002 | a0001c0001t0010g0022 a0001c0004t0002g0232 a0001c0004t0002g0233 |
3 | 268 | 0.0112 | -61 | c.292 others(76): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
VAV2_chr9_133756894_133997324 | 133937363 | GTGTTTGT others(54): Show |
G | intron_variant | MODIFIER | HG02004.hp1 HG02647.hp2 |
a0001a0005 | a0001c0007a0005c0024 | a0001c0007t0003a0005c0024t0002 | a0001c0007t0003g0004 a0005c0024t0002g0132 |
2 | 200 | 0.0100 | -61 | c.321 others(78): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 2/29 | chr9 | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11605232 | CCCCCCAC others(54): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 388 | 0.0026 | -61 | c.83- others(76): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 653155 | CGGTGACA others(54): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0107 | a0001c0001t0107g0212 | 1 | 232 | 0.0043 | -61 | c.608 others(75): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 7/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 653173 | TGGAAAGC others(54): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG02135.hp2 HG02602.hp1 others(12): Show |
a0001 | a0001c0002a0001c0005a0001c0011 | a0001c0002t0001a0001c0002t0065a0001c0002t0077others(10): Show | a0001c0002t0001g0094 a0001c0002t0065g0093 a0001c0002t0077g0095 others(12): Show |
15 | 232 | 0.0647 | -61 | c.608 others(75): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 7/21 | chr17 | TogoVar | |||||||
VSNL1_chr2_17535696_17662018 | 17622519 | AAAAGAAA others(54): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG02015.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(5): Show | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0174 others(19): Show |
23 | 232 | 0.0991 | -61 | c.163 others(80): Show |
VSNL1 | ENSG00000163032.12 | transcript | ENST00000295156.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
WDR18_chr19_979345_999557 | 991717 | CGGGGCCT others(54): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0146 | 1 | 456 | 0.0022 | -61 | c.932 others(76): Show |
WDR18 | ENSG00000065268.11 | transcript | ENST00000585809.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
WDR27_chr6_169452212_169707029 | 169645650 | GCCTAGTT others(54): Show |
G | intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0073 | 1 | 294 | 0.0034 | -61 | c.165 others(80): Show |
WDR27 | ENSG00000184465.16 | transcript | ENST00000448612.6 | protein_coding | 16/25 | chr6 | TogoVar | |||||||
WDR27_chr6_169452212_169707029 | 169645681 | TCCTAGTT others(54): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG03225.hp2 HG03471.hp2 |
a0004a0024 | a0004c0006a0024c0049 | a0004c0006t0006a0024c0049t0006 | a0004c0006t0006g0277 a0004c0006t0006g0280 a0024c0049t0006g0279 |
3 | 294 | 0.0102 | -61 | c.165 others(80): Show |
WDR27 | ENSG00000184465.16 | transcript | ENST00000448612.6 | protein_coding | 16/25 | chr6 | TogoVar | |||||||
WDR27_chr6_169452212_169707029 | 169665024 | GGGCAGCG others(54): Show |
G | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 294 | 0.0034 | -61 | c.783 others(76): Show |
WDR27 | ENSG00000184465.16 | transcript | ENST00000448612.6 | protein_coding | 7/25 | chr6 | TogoVar | |||||||
ZBTB7C_chr18_48021672_48414383 | 48221388 | CTCCTCTA others(54): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(16): Show | a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0002g0106 others(19): Show |
22 | 174 | 0.1264 | -61 | c.-78 others(80): Show |
ZBTB7C | ENSG00000184828.10 | transcript | ENST00000590800.6 | protein_coding | 2/4 | chr18 | TogoVar | |||||||
ZDHHC14_chr6_157376190_157683157 | 157522829 | CTCCCTCC others(54): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0047 | 1 | 188 | 0.0053 | -61 | c.246 others(80): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZFAND3_chr6_37814727_38159624 | 38041740 | TCCTCCTC others(54): Show |
T | intron_variant | MODIFIER | NA19062.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 a0001c0001t0001g0125 |
2 | 318 | 0.0063 | -61 | c.113 others(80): Show |
ZFAND3 | ENSG00000156639.12 | transcript | ENST00000287218.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZFR2_chr19_3799024_3874038 | 3866388 | CGGGTTGC others(54): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(366): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0009a0001c0034others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(79): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0047 others(362): Show |
369 | 398 | 0.9271 | -61 | c.53+ others(76): Show |
ZFR2 | ENSG00000105278.12 | transcript | ENST00000262961.9 | protein_coding | 1/18 | chr19 | TogoVar | |||||||
ZMAT4_chr8_40525590_40902826 | 40601502 | AAAGAAAG others(54): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 228 | 0.0044 | -61 | c.578 others(80): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
ZNF225_chr19_44108399_44139822 | 44138112 | ACCAGCCT others(54): Show |
A | downstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 404 | 0.0025 | -61 | c.*53 others(72): Show |
ZNF225 | ENSG00000256294.8 | transcript | ENST00000262894.11 | protein_coding | 3291 | chr19 | TogoVar | |||||||
ZNF350_chr19_51959340_51991840 | 51976029 | TCCCTGGC others(54): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(130): Show |
a0000a0001a0002others(3): Show | a0000c0009a0001c0003a0002c0002others(7): Show | a0000c0009t0002a0001c0003t0003a0002c0002t0001others(9): Show | a0000c0009t0002g0155 a0000c0009t0002g0157 a0001c0003t0003g0004 others(83): Show |
133 | 362 | 0.3674 | -61 | c.-17 others(80): Show |
ZNF350 | ENSG00000256683.7 | transcript | ENST00000243644.9 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
ZNF385D_chr3_21407218_21756210 | 21593071 | CTTCAGGT others(54): Show |
C | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0120 | 1 | 256 | 0.0039 | -61 | c.166 others(80): Show |
ZNF385D | ENSG00000151789.13 | transcript | ENST00000281523.8 | protein_coding | 2/7 | chr3 | TogoVar | |||||||
ZNF430_chr19_21015657_21065050 | 21019170 | GTTTGTCT others(54): Show |
G | upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0241 | 1 | 298 | 0.0034 | -61 | c.-16 others(72): Show |
ZNF430 | ENSG00000118620.13 | transcript | ENST00000261560.10 | protein_coding | 1486 | chr19 | TogoVar | |||||||
ZNF469_chr16_88377959_88445753 | 88388827 | TGGTGCCA others(54): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0131 | a0131c0183 | a0131c0183t0012 | a0131c0183t0012g0195 | 1 | 354 | 0.0028 | -61 | c.-19 others(80): Show |
ZNF469 | ENSG00000225614.4 | transcript | ENST00000565624.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76393097 | CAGGTGGT others(54): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0026 | a0001c0026t0054 | a0001c0026t0054g0037 | 1 | 346 | 0.0029 | -61 | c.181 others(82): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76393143 | CAGGTGGT others(54): Show |
C | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0205 | 1 | 346 | 0.0029 | -61 | c.181 others(82): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76393659 | CGGGTGGT others(54): Show |
C | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 346 | 0.0029 | -61 | c.181 others(82): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76393728 | CAGGTGGT others(54): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03041.hp1 |
a0001a0004 | a0001c0004a0004c0017 | a0001c0004t0102a0004c0017t0074 | a0001c0004t0102g0302 a0004c0017t0074g0301 |
2 | 346 | 0.0058 | -61 | c.181 others(82): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76393924 | TCAGGTGG others(54): Show |
T | intron_variant | MODIFIER | HG01358.hp2 HG02809.hp1 |
a0001a0020 | a0001c0005a0020c0056 | a0001c0005t0094a0020c0056t0130 | a0001c0005t0094g0196 a0020c0056t0130g0068 |
2 | 346 | 0.0058 | -61 | c.181 others(82): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76394706 | CAGGTGGT others(54): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0042 | a0001c0042t0103 | a0001c0042t0103g0126 | 1 | 346 | 0.0029 | -61 | c.181 others(82): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF662_chr3_42901142_42924334 | 42912659 | TATATATA others(54): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0028 | a0001c0001t0023g0035 a0001c0001t0028g0035 |
2 | 382 | 0.0052 | -61 | c.152 others(76): Show |
ZNF662 | ENSG00000182983.15 | transcript | ENST00000440367.7 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
ZNF713_chr7_55882456_55947225 | 55887720 | GGCGGGGG others(54): Show |
G | intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0147 | 1 | 410 | 0.0024 | -61 | c.-58 others(77): Show |
ZNF713 | ENSG00000178665.16 | transcript | ENST00000429591.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZP4_chr1_237877404_237895922 | 237883633 | AGGGGGAG others(54): Show |
A | intron_variant | MODIFIER | HG01975.hp1 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 a0001c0001t0001g0218 |
2 | 448 | 0.0045 | -61 | c.139 others(78): Show |
ZP4 | ENSG00000116996.10 | transcript | ENST00000366570.5 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37023490 | TATTCTTT others(53): Show |
T | intron_variant | MODIFIER | HG01981.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0168 |
2 | 245 | 0.0082 | -60 | c.154 others(79): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81119647 | AGTCACGG others(53): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(64): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0066a0003c0007others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0066t0001others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(60): Show |
67 | 368 | 0.1821 | -60 | c.388 others(76): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 12/13 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69146194 | TATATATA others(53): Show |
T | downstream_gene_variant | MODIFIER | HG03942.hp2 | a0024 | a0024c0027 | a0024c0027t0001 | a0024c0027t0001g0227 | 1 | 348 | 0.0029 | -60 | c.*25 others(71): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1812 | chr17 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48341856 | GATATATA others(53): Show |
G | intron_variant | MODIFIER | NA19011.hp1 | a0010 | a0010c0031 | a0010c0031t0003 | a0010c0031t0003g0115 | 1 | 178 | 0.0056 | -60 | c.102 others(81): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 29/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862631 | TGCCGGGC others(53): Show |
T | intron_variant | MODIFIER | HG01993.hp2 | a0010 | a0010c0007 | a0010c0007t0002 | a0010c0007t0002g0125 | 1 | 318 | 0.0031 | -60 | c.422 others(75): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146194 | TATATATA others(53): Show |
T | upstream_gene_variant | MODIFIER | HG02622.hp1 HG03942.hp2 |
a0001a0024 | a0001c0001a0024c0029 | a0001c0001t0001a0024c0029t0001 | a0001c0001t0001g0163 a0024c0029t0001g0243 |
2 | 326 | 0.0061 | -60 | c.-45 others(71): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4300 | chr17 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20680996 | TTCTTTCT others(53): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(128): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0005a0001c0061others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(56): Show | a0001c0001t0001g0054 a0001c0001t0001g0114 a0001c0001t0001g0182 others(128): Show |
131 | 360 | 0.3639 | -60 | c.170 others(77): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |