view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALOXE3_chr17_8090900_8123514 | 8107936 | AGAAAGAA others(55): Show |
A | intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0262 | 1 | 422 | 0.0024 | -62 | c.168 others(79): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALPK1_chr4_112292369_112447621 | 112427350 | TACATGTT others(55): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(202): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0007others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0001g0011a0001c0001t0001g0023a0001c0001t0001g0057others(201): Show | 205 | 306 | 0.6699 | -62 | c.700 others(77): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2520576 | CGGGCGGG others(55): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 318 | 0.0031 | -62 | c.83+ others(73): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107296964 | CAAATTTT others(55): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074a0001c0001t0001g0080a0001c0001t0001g0128 | 3 | 292 | 0.0103 | -62 | c.937 others(79): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 5/8 | chr8 | TogoVar | |||||||
ANGPT2_chr8_6494632_6568245 | 6505931 | CATACATA others(55): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01167.hp2 HG01169.hp1 others(51): Show |
a0001a0002a0005 | a0001c0003a0001c0004a0001c0007others(7): Show | a0001c0003t0037a0001c0004t0004a0001c0004t0010others(21): Show | a0001c0003t0037g0136a0001c0004t0004g0044a0001c0004t0004g0049others(51): Show | 54 | 336 | 0.1607 | -62 | c.132 others(81): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
ANK2_chr4_113044653_113388736 | 113334584 | AGTTAATA others(55): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0011 | a0011c0025 | a0011c0025t0001 | a0011c0025t0001g0094 | 1 | 178 | 0.0056 | -62 | c.338 others(81): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 29/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64952334 | TCTCCTTC others(55): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0034 | 1 | 338 | 0.0030 | -62 | c.148 others(81): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64953999 | CCTTTCTT others(55): Show |
C | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 338 | 0.0030 | -62 | c.148 others(81): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140458945 | CATATATA others(55): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02630.hp1 HG02717.hp1 others(4): Show |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0001a0006c0013t0001 | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0030others(4): Show | 7 | 322 | 0.0217 | -62 | c.148 others(79): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKRD33B_chr5_10559070_10662816 | 10638947 | GGGTGACG others(55): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0084 | 1 | 324 | 0.0031 | -62 | c.637 others(77): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKRD33B_chr5_10559070_10662816 | 10639009 | CGGTGACG others(55): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG02027.hp2 HG02071.hp1 others(2): Show |
a0001a0009 | a0001c0001a0009c0032 | a0001c0001t0001a0009c0032t0003 | a0001c0001t0001g0221a0001c0001t0001g0247a0001c0001t0001g0301others(2): Show | 5 | 324 | 0.0154 | -62 | c.637 others(77): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKRD33B_chr5_10559070_10662816 | 10639133 | GGGTGACG others(55): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139a0001c0001t0001g0235 | 2 | 324 | 0.0062 | -62 | c.637 others(78): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKRD33B_chr5_10559070_10662816 | 10639288 | GGGTGACG others(55): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00741.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0025others(5): Show | a0001c0001t0001g0060a0001c0001t0001g0143a0001c0001t0001g0164others(16): Show | 19 | 324 | 0.0586 | -62 | c.637 others(79): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKRD33B_chr5_10559070_10662816 | 10639361 | AGTTGCGC others(55): Show |
A | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0202 | 1 | 324 | 0.0031 | -62 | c.637 others(79): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKRD33B_chr5_10559070_10662816 | 10639474 | GGGTGACG others(55): Show |
G | intron_variant | MODIFIER | HG03486.hp1 NA18966.hp2 NA18969.hp1 others(1): Show |
a0001 | a0001c0006a0001c0007a0001c0014 | a0001c0006t0007a0001c0007t0001a0001c0014t0008 | a0001c0006t0007g0191a0001c0006t0007g0270a0001c0007t0001g0155others(1): Show | 4 | 324 | 0.0124 | -62 | c.637 others(79): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKRD33B_chr5_10559070_10662816 | 10639513 | CGGCGTTG others(55): Show |
C | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0006 | a0001c0006t0058 | a0001c0006t0058g0023 | 1 | 324 | 0.0031 | -62 | c.637 others(79): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKRD33B_chr5_10559070_10662816 | 10639544 | TGGAGTTG others(55): Show |
T | intron_variant | MODIFIER | NA19084.hp1 NA19088.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0167a0001c0001t0001g0169a0001c0001t0012g0019 | 3 | 324 | 0.0093 | -62 | c.637 others(79): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKRD33B_chr5_10559070_10662816 | 10639629 | GGGTGACG others(55): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00738.hp1 others(36): Show |
a0001a0005a0010 | a0001c0001a0001c0004a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(15): Show | a0001c0001t0001g0064a0001c0001t0001g0115a0001c0001t0001g0121others(36): Show | 39 | 324 | 0.1204 | -62 | c.637 others(79): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKRD33B_chr5_10559070_10662816 | 10639702 | AGTTGCGC others(55): Show |
A | intron_variant | MODIFIER | NA18966.hp2 NA18969.hp1 |
a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0191a0001c0006t0007g0270 | 2 | 324 | 0.0062 | -62 | c.637 others(79): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKRD33B_chr5_10559070_10662816 | 10639722 | GGGTGACG others(55): Show |
G | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0298 | 1 | 324 | 0.0031 | -62 | c.637 others(79): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKRD33B_chr5_10559070_10662816 | 10639831 | CGCGGCGA others(55): Show |
C | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 324 | 0.0031 | -62 | c.637 others(79): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKRD33B_chr5_10559070_10662816 | 10639857 | CGTTGCGC others(55): Show |
C | intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0191 | 1 | 324 | 0.0031 | -62 | c.637 others(79): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKRD33B_chr5_10559070_10662816 | 10639939 | CGGTGACG others(55): Show |
C | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 324 | 0.0031 | -62 | c.637 others(79): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANO9_chr11_412938_447011 | 442404 | CTCCCCCA others(55): Show |
C | upstream_gene_variant | MODIFIER | HG01517.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0030 | 1 | 286 | 0.0035 | -62 | c.-54 others(71): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 394 | chr11 | TogoVar | |||||||
APOBEC3H_chr22_39092244_39109067 | 39101584 | GGGGTTGG others(55): Show |
G | intron_variant | MODIFIER | HG01975.hp1 HG02148.hp1 HG06807.hp2 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0057a0006c0007t0001g0037 | 3 | 418 | 0.0072 | -62 | c.418 others(77): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
APOBEC3H_chr22_39092244_39109067 | 39101634 | GGGGGGTG others(55): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(145): Show |
a0002a0003a0004others(3): Show | a0002c0002a0002c0010a0003c0003others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(10): Show | a0002c0002t0002g0051a0002c0002t0002g0067a0002c0002t0003g0007others(49): Show | 148 | 418 | 0.3541 | -62 | c.418 others(77): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
AQP7B_chr2_94582311_94609628 | 94604251 | TCAGCCCC others(55): Show |
T | frameshift_variant others(3): Show |
HIGH | HG00438.hp1 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0169 | 1 | 384 | 0.0026 | -62 | c.756 others(72): Show |
p.Asp others(5): Show |
AQP7B | ENSG00000259916.2 | transcript | ENST00000561882.2 | protein_coding | 8/8 | 756/1041 | 252/346 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||
ARFIP1_chr4_152774954_152917357 | 152804240 | TAATATAT others(55): Show |
T | intron_variant | MODIFIER | HG02698.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029a0001c0001t0002g0312 | 2 | 342 | 0.0059 | -62 | c.-10 others(81): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
ARHGAP10_chr4_147727088_148077776 | 147784114 | ATTTACAT others(55): Show |
A | intron_variant | MODIFIER | HG03098.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0011a0001c0004t0001g0102 | 2 | 106 | 0.0189 | -62 | c.155 others(81): Show |
ARHGAP10 | ENSG00000071205.12 | transcript | ENST00000336498.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1889400 | ATCTGTGA others(55): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02280.hp1 others(3): Show |
a0001a0004a0011 | a0001c0003a0001c0005a0001c0106others(2): Show | a0001c0003t0003a0001c0003t0035a0001c0005t0027others(3): Show | a0001c0003t0003g0362a0001c0003t0035g0180a0001c0005t0027g0195others(3): Show | 6 | 363 | 0.0165 | -62 | c.118 others(81): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARID4B_chr1_235161902_235333179 | 235294405 | CGGGTTCA others(55): Show |
C | intron_variant | MODIFIER | HG03471.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0151a0001c0001t0005g0255 | 2 | 272 | 0.0074 | -62 | c.6+3 others(77): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 2/23 | chr1 | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3037118 | TAATATAT others(55): Show |
T | upstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 193 | 0.0052 | -62 | c.-45 others(73): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4352 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3037118 | TAATATAT others(55): Show |
T | downstream_gene_variant | MODIFIER | NA19006.hp1 NA19091.hp1 |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0001a0009c0011t0001 | a0001c0001t0001g0053a0009c0011t0001g0061 | 2 | 248 | 0.0081 | -62 | c.*37 others(73): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 3008 | chrX | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049182 | CATGGGGG others(55): Show |
C | downstream_gene_variant | MODIFIER | NA18942.hp1 NA18998.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0282a0002c0002t0003g0283 | 2 | 308 | 0.0065 | -62 | c.*54 others(73): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2921 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049422 | AGGAGAAC others(55): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 308 | 0.0033 | -62 | c.*52 others(73): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2681 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049466 | AGAACACA others(55): Show |
A | downstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 308 | 0.0033 | -62 | c.*52 others(73): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2637 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049622 | GGGGCAGA others(55): Show |
G | downstream_gene_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0082a0002c0002t0003g0083 | 2 | 308 | 0.0065 | -62 | c.*50 others(73): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2481 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049859 | AGAACACA others(55): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0227a0001c0001t0019g0286 | 2 | 308 | 0.0065 | -62 | c.*48 others(73): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2244 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049987 | CACATGGG others(55): Show |
C | downstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 308 | 0.0033 | -62 | c.*46 others(73): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2116 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130050015 | GGGGCAGA others(55): Show |
G | downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0015 | 1 | 308 | 0.0033 | -62 | c.*46 others(73): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2088 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130050137 | TGGGGGCA others(55): Show |
T | downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 308 | 0.0033 | -62 | c.*45 others(73): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1966 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130050219 | TGGGGGGC others(55): Show |
T | downstream_gene_variant | MODIFIER | HG01496.hp1 HG01943.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0041a0001c0001t0001g0053a0001c0001t0001g0097others(5): Show | 8 | 308 | 0.0260 | -62 | c.*44 others(73): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1884 | chr8 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176208738 | GTCTTAGT others(55): Show |
G | downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0281 | 1 | 410 | 0.0024 | -62 | c.*68 others(73): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 4934 | chr4 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608675 | TTATATAT others(55): Show |
T | intron_variant | MODIFIER | HG02897.hp2 HG02976.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219a0001c0001t0001g0220a0001c0001t0001g0260 | 3 | 314 | 0.0096 | -62 | c.478 others(81): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1624558 | GGGCTGCA others(55): Show |
G | intron_variant | MODIFIER | HG03195.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0158 | 2 | 223 | 0.0090 | -62 | c.374 others(77): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1624657 | CCCCCAGG others(55): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02280.hp1 HG02818.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0021others(3): Show | 6 | 223 | 0.0269 | -62 | c.374 others(77): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1624869 | GGCTGCAC others(55): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 223 | 0.0045 | -62 | c.374 others(77): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804381 | TCCCCCCA others(55): Show |
T | intron_variant | MODIFIER | NA18966.hp1 NA19002.hp1 |
a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0010a0003c0008t0001g0170 | 2 | 254 | 0.0079 | -62 | c.163 others(77): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112845639 | AGCACTAG others(55): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0016a0001c0017 | a0001c0016t0004a0001c0017t0058a0001c0017t0076 | a0001c0016t0004g0214a0001c0016t0004g0215a0001c0017t0058g0053others(1): Show | 4 | 254 | 0.0158 | -62 | c.180 others(81): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3944868 | TTGGCCCC others(55): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0013 | a0003c0013t0009 | a0003c0013t0009g0017 | 1 | 332 | 0.0030 | -62 | c.118 others(78): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 9/20 | chr17 | TogoVar |