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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD16B_chr20_63856498_63867988 | 63861822 | C | CGGCCAGC others(16): Show |
frameshift_variant | HIGH | HG03834.hp1 | a0014 | a0014c0009 | a0014c0009t0001 | a0014c0009t0001g0000 | 1 | 398 | 0.0025 | 23 | c.287 others(30): Show |
p.His others(5): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 1/1 | 353/1491 | 310/1410 | 104/469 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
ABHD17B_chr9_71860152_71916193 | 71913765 | A | ACTTGTAC others(16): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 186 | 0.0054 | 23 | c.-31 others(34): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 2573 | chr9 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80705333 | T | TTTGTGTG others(16): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01975.hp1 HG01978.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007 | a0001c0001t0002g0087a0001c0001t0002g0092a0001c0001t0002g0093others(7): Show | 10 | 360 | 0.0278 | 23 | c.590 others(40): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD3_chr18_21645901_21709774 | 21667234 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 304 | 0.0033 | 23 | c.556 others(40): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26773215 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01975.hp2 HG02040.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0013a0001c0001t0001g0019a0001c0001t0001g0031others(10): Show | 13 | 358 | 0.0363 | 23 | c.463 others(40): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 3/10 | chr10 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203385139 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02083.hp2 HG03492.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0213a0001c0001t0001g0229a0001c0001t0001g0233others(5): Show | 8 | 320 | 0.0250 | 23 | c.480 others(40): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI3BP_chr3_100744156_100998421 | 100869330 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0054 | a0001c0054t0007 | a0001c0054t0007g0007 | 1 | 238 | 0.0042 | 23 | c.911 others(40): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 9/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100894938 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01346.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0006others(5): Show | a0001c0001t0006a0002c0002t0002a0002c0002t0005others(6): Show | a0001c0001t0006g0170a0002c0002t0002g0053a0002c0002t0005g0074others(6): Show | 9 | 238 | 0.0378 | 23 | c.461 others(40): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 4/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100894965 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 238 | 0.0042 | 23 | c.461 others(40): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 4/67 | chr3 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 7980941 | A | ATCTTTTT others(16): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0014 | a0001c0001t0012g0008a0001c0001t0014g0038 | 2 | 322 | 0.0062 | 23 | c.182 others(42): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 20/20 | chr4 | TogoVar | ||||||
ABLIM3_chr5_149136493_149265542 | 149245595 | G | GTAGTGGC others(16): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01496.hp2 HG01952.hp2 others(11): Show |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0001a0005c0012t0001 | a0001c0001t0001g0031a0001c0001t0001g0048a0001c0001t0001g0051others(11): Show | 14 | 258 | 0.0543 | 23 | c.148 others(40): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1079788 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0025 | a0001c0003t0025g0009 | 1 | 337 | 0.0030 | 23 | c.640 others(38): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 5/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1091281 | C | CTCCGGGA others(16): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0003 | a0003c0015 | a0003c0015t0062 | a0003c0015t0062g0212 | 1 | 337 | 0.0030 | 23 | c.531 others(38): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 4/22 | chr17 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34214176 | A | ACACACAC others(16): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0065 | 1 | 246 | 0.0041 | 23 | c.884 others(40): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107508438 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02735.hp1 HG02818.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0015a0001c0001t0033a0001c0003t0006others(2): Show | a0001c0001t0015g0156a0001c0001t0033g0077a0001c0003t0006g0140others(2): Show | 5 | 186 | 0.0269 | 23 | c.113 others(44): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107626343 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02723.hp2 HG02896.hp1 |
a0002a0004a0013 | a0002c0015a0004c0005a0013c0024 | a0002c0015t0007a0004c0005t0009a0013c0024t0001 | a0002c0015t0007g0166a0004c0005t0009g0103a0013c0024t0001g0019 | 3 | 186 | 0.0161 | 23 | c.263 others(42): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107648414 | A | ACACACAC others(16): Show |
intron_variant | MODIFIER | HG02738.hp1 HG02738.hp2 |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0005a0003c0006t0005 | a0001c0003t0005g0133a0003c0006t0005g0144 | 2 | 186 | 0.0108 | 23 | c.292 others(40): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | chr12 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0004 | a0001c0004t0031 | a0001c0004t0031g0129 | 1 | 299 | 0.0033 | 23 | c.507 others(42): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0004 | a0001c0004t0021 | a0001c0004t0021g0023 | 1 | 299 | 0.0033 | 23 | c.507 others(42): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 299 | 0.0033 | 23 | c.507 others(42): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01884.hp1 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0180 | 2 | 299 | 0.0067 | 23 | c.507 others(42): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37174021 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00558.hp2 HG03942.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062a0001c0002t0001g0267 | 2 | 299 | 0.0067 | 23 | c.507 others(42): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37390304 | T | TTTTATAT others(16): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01515.hp2 HG02698.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0177a0001c0001t0001g0184a0001c0003t0001g0163 | 3 | 299 | 0.0100 | 23 | c.38+ others(40): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109167654 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0250 | 1 | 308 | 0.0033 | 23 | c.787 others(38): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 3/52 | chr12 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75753795 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02258.hp2 others(10): Show |
a0001a0006 | a0001c0001a0001c0004a0006c0008 | a0001c0001t0001a0001c0004t0005a0006c0008t0001 | a0001c0001t0001g0246a0001c0001t0001g0252a0001c0001t0001g0253others(10): Show | 13 | 364 | 0.0357 | 23 | c.945 others(40): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADSB_chr10_123004006_123063290 | 123045171 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0004 | a0004c0007 | a0004c0007t0006 | a0004c0007t0006g0099 | 1 | 374 | 0.0027 | 23 | c.900 others(38): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACAP2_chr3_195269745_195448020 | 195294608 | A | AAAAATAT others(16): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0026 | 1 | 324 | 0.0031 | 23 | c.176 others(40): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 18/22 | chr3 | TogoVar | ||||||
ACAT1_chr11_108116567_108152603 | 108131354 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG01168.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0067a0002c0002t0002g0006a0002c0002t0002g0257others(14): Show | 20 | 386 | 0.0518 | 23 | c.73- others(36): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACBD3_chr1_226139679_226191741 | 226172155 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0258 | 1 | 396 | 0.0025 | 23 | c.287 others(40): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27228815 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18978.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0299a0001c0002t0001g0312 | 2 | 384 | 0.0052 | 23 | c.375 others(40): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27228815 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01978.hp1 NA19077.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0266a0001c0002t0001g0309 | 2 | 384 | 0.0052 | 23 | c.375 others(40): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27228815 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310a0001c0001t0001g0311 | 2 | 384 | 0.0052 | 23 | c.375 others(40): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27228816 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 384 | 0.0026 | 23 | c.375 others(40): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | ||||||
ACBD6_chr1_180283230_180507577 | 180321406 | T | TTCTTCCA others(16): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 334 | 0.0030 | 23 | c.664 others(40): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
ACE2_chrX_15556033_15605960 | 15601481 | G | GTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02886.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0033others(1): Show | 4 | 264 | 0.0152 | 23 | c.-57 others(32): Show |
ACE2 | ENSG00000130234.13 | transcript | ENST00000252519.8 | protein_coding | 522 | chrX | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6329356 | T | TAGAATAG others(16): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351 | 1 | 396 | 0.0025 | 23 | c.93+ others(38): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ACER2_chr9_19404009_19457505 | 19428080 | T | TTCCTTTC others(16): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0261 | 1 | 358 | 0.0028 | 23 | c.365 others(40): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 3/5 | chr9 | TogoVar | ||||||
ACKR3_chr2_236564825_236587354 | 236566711 | T | TTCCTTCC others(16): Show |
upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 394 | 0.0025 | 23 | c.-32 others(34): Show |
ACKR3 | ENSG00000144476.6 | transcript | ENST00000272928.4 | protein_coding | 3113 | chr2 | TogoVar | ||||||
ACKR3_chr2_236564825_236587354 | 236566860 | T | TCTTTCTC others(16): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0122 | 2 | 394 | 0.0051 | 23 | c.-30 others(34): Show |
ACKR3 | ENSG00000144476.6 | transcript | ENST00000272928.4 | protein_coding | 2964 | chr2 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41875406 | C | CCTCCCTC others(16): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG01168.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0007t0002others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0047a0001c0001t0001g0176others(33): Show | 36 | 294 | 0.1225 | 23 | c.248 others(42): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 22/28 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41900069 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0280 | 1 | 294 | 0.0034 | 23 | c.118 others(42): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 11/28 | chr17 | TogoVar | ||||||
ACOD1_chr13_76943511_76963638 | 76944257 | C | CAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 434 | 0.0023 | 23 | c.-43 others(34): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 4253 | chr13 | TogoVar | ||||||
ACOT12_chr5_81324996_81399134 | 81327174 | T | TATATATA others(16): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 HG03098.hp1 HG03579.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0005a0002c0002t0007 | a0001c0001t0004g0160a0001c0001t0005g0034a0001c0001t0005g0252others(1): Show | 4 | 278 | 0.0144 | 23 | c.*32 others(34): Show |
ACOT12 | ENSG00000172497.9 | transcript | ENST00000307624.8 | protein_coding | 2821 | chr5 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75970184 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 344 | 0.0029 | 23 | c.269 others(40): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
ACOX3_chr4_8361282_8445723 | 8409617 | G | GGGGCTGT others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(113): Show |
a0001a0007a0009others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0120others(113): Show | 116 | 380 | 0.3053 | 23 | c.687 others(38): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 111003550 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02027.hp1 HG03579.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0049a0001c0001t0002g0048a0001c0001t0002g0101 | 3 | 150 | 0.0200 | 23 | c.128 others(42): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACP5_chr19_11569660_11582645 | 11576006 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18944.hp1 NA18984.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0027 | 6 | 444 | 0.0135 | 23 | c.735 others(38): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
ACP5_chr19_11569660_11582645 | 11581460 | G | GGTGGCTC others(16): Show |
upstream_gene_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0015 | 1 | 444 | 0.0023 | 23 | c.-38 others(34): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 3816 | chr19 | TogoVar | ||||||
ACP7_chr19_39079368_39116493 | 39102715 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02735.hp2 NA18952.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0002 | a0001c0001t0001g0338a0001c0001t0011g0168a0001c0002t0002g0155others(1): Show | 4 | 402 | 0.0100 | 23 | c.111 others(42): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACRV1_chr11_125666522_125685847 | 125678974 | C | CATTATAT others(16): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0059 | 1 | 426 | 0.0024 | 23 | c.53- others(36): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 1/3 | chr11 | TogoVar |