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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACIN1_chr14_23053564_23100136 | 23064896 | C | CAAAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG01106.hp1 HG01109.hp1 others(46): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(12): Show | a0001c0001t0001g0140a0001c0001t0001g0161a0001c0001t0001g0220others(40): Show | 49 | 350 | 0.1400 | 7 | c.230 others(24): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 10/18 | chr14 | TogoVar | ||||||
ACKR2_chr3_42804445_42872286 | 42828092 | A | ATATATTT | intron_variant | MODIFIER | HG01346.hp2 HG01361.hp2 HG02040.hp2 others(11): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(3): Show | a0001c0001t0001g0092a0001c0001t0001g0113a0001c0001t0003g0032others(10): Show | 14 | 342 | 0.0409 | 7 | c.-38 others(24): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACKR2_chr3_42804445_42872286 | 42860164 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(29): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0113a0001c0001t0003g0042others(29): Show | 32 | 342 | 0.0936 | 7 | c.-37 others(24): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACKR2_chr3_42804445_42872286 | 42860189 | A | AAAAAAAC | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00673.hp2 others(37): Show |
a0002a0004 | a0002c0002a0002c0009a0004c0005 | a0002c0002t0002a0002c0002t0004a0002c0002t0010others(4): Show | a0002c0002t0002g0022a0002c0002t0002g0045a0002c0002t0002g0047others(37): Show | 40 | 342 | 0.1170 | 7 | c.-37 others(24): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
ACKR2_chr3_42804445_42872286 | 42866174 | T | TTCTTTTC | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02970.hp2 HG03041.hp2 others(4): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0009a0004c0005t0009 | a0002c0002t0009g0010a0002c0002t0009g0091a0002c0002t0009g0204others(3): Show | 7 | 342 | 0.0205 | 7 | c.*51 others(16): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 3/3 | 519 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ACLY_chr17_41861918_41923951 | 41879647 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG01099.hp2 HG01192.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0069others(18): Show | 21 | 294 | 0.0714 | 7 | c.226 others(24): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 20/28 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41882367 | C | CAAAAAAA | intron_variant | MODIFIER | HG01168.hp2 HG02451.hp1 HG02486.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0018a0001c0001t0001g0095a0001c0001t0001g0156others(6): Show | 9 | 294 | 0.0306 | 7 | c.226 others(24): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 20/28 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41887127 | G | GAAAAAAA | intron_variant | MODIFIER | HG02630.hp2 HG03017.hp2 NA18957.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0008 | a0002c0002t0003g0260a0002c0002t0003g0262a0002c0002t0003g0277others(5): Show | 8 | 294 | 0.0272 | 7 | c.187 others(24): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 17/28 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41889524 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(77): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0013 | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0051others(77): Show | 80 | 294 | 0.2721 | 7 | c.177 others(26): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 16/28 | chr17 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134840167 | C | CAAAAAAA | intron_variant | MODIFIER | HG01346.hp1 NA18951.hp1 NA18965.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0134a0001c0001t0001g0268a0001c0001t0001g0269others(9): Show | 12 | 382 | 0.0314 | 7 | c.57+ others(22): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACMSD_chr2_134833616_134907034 | 134860856 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG00642.hp2 HG00741.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0029others(34): Show | 38 | 382 | 0.0995 | 7 | c.200 others(24): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACMSD_chr2_134833616_134907034 | 134885292 | T | TATATATA | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00558.hp1 others(166): Show |
a0001a0008 | a0001c0001a0001c0004a0008c0010 | a0001c0001t0001a0001c0004t0001a0008c0010t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0015others(164): Show | 169 | 382 | 0.4424 | 7 | c.849 others(26): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54571071 | C | CTCTCTCT | intron_variant | MODIFIER | HG00609.hp2 HG02145.hp2 HG02896.hp2 others(4): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0027a0001c0001t0002g0186a0001c0001t0002g0301others(4): Show | 7 | 388 | 0.0180 | 7 | c.34- others(24): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54575113 | T | TGTAATCA | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00609.hp2 others(82): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0008others(14): Show | a0001c0001t0001g0027a0001c0001t0002g0186a0001c0001t0002g0301others(82): Show | 85 | 388 | 0.2191 | 7 | c.34- others(22): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT12_chr5_81324996_81399134 | 81395918 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(68): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0039a0001c0001t0001g0043others(65): Show | 71 | 278 | 0.2554 | 7 | c.-18 others(18): Show |
ACOT12 | ENSG00000172497.9 | transcript | ENST00000307624.8 | protein_coding | 1785 | chr5 | TogoVar | ||||||
ACOT7_chr1_6259272_6398767 | 6336333 | C | CAAAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01243.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0055a0001c0001t0003g0170a0001c0001t0003g0172others(5): Show | 8 | 240 | 0.0333 | 7 | c.419 others(24): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
ACOX3_chr4_8361282_8445723 | 8361425 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01167.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0054others(5): Show | 8 | 380 | 0.0211 | 7 | c.*55 others(18): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 4856 | chr4 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110995499 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01175.hp2 HG01243.hp1 others(12): Show |
a0000a0001a0002others(3): Show | a0000c0013a0001c0001a0002c0002others(3): Show | a0000c0013t0001a0001c0001t0001a0002c0002t0001others(6): Show | a0000c0013t0001g0046a0001c0001t0001g0086a0002c0002t0001g0061others(12): Show | 15 | 150 | 0.1000 | 7 | c.117 others(24): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 111003550 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG01257.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0108others(15): Show | 18 | 150 | 0.1200 | 7 | c.128 others(26): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 111108371 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG01175.hp1 HG01243.hp1 others(27): Show |
a0000a0001a0002others(3): Show | a0000c0013a0000c0014a0001c0001others(5): Show | a0000c0013t0001a0000c0014t0001a0001c0001t0001others(7): Show | a0000c0013t0001g0046a0000c0014t0001g0072a0001c0001t0001g0011others(27): Show | 30 | 150 | 0.2000 | 7 | c.154 others(26): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACP5_chr19_11569660_11582645 | 11576006 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG01175.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0014 | 6 | 444 | 0.0135 | 7 | c.735 others(22): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
ACP7_chr19_39079368_39116493 | 39102715 | T | TTACTTTC | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG00733.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0119a0001c0002t0002g0123a0001c0002t0002g0128others(15): Show | 18 | 402 | 0.0448 | 7 | c.111 others(26): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACP7_chr19_39079368_39116493 | 39102715 | T | TTTCTTTC | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01070.hp1 others(27): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0028others(7): Show | a0001c0001t0001g0049a0001c0001t0001g0097a0001c0001t0001g0201others(27): Show | 30 | 402 | 0.0746 | 7 | c.111 others(26): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACP7_chr19_39079368_39116493 | 39103441 | G | GTGTTTTT | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp1 HG01257.hp1 others(8): Show |
a0001a0002 | a0001c0004a0001c0010a0002c0011 | a0001c0004t0004a0001c0004t0017a0001c0010t0004others(1): Show | a0001c0004t0004g0050a0001c0004t0004g0065a0001c0004t0004g0066others(8): Show | 11 | 402 | 0.0274 | 7 | c.111 others(26): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACP7_chr19_39079368_39116493 | 39107578 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01070.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0011 | a0001c0001t0004a0001c0004t0004a0001c0004t0017others(2): Show | a0001c0001t0004g0327a0001c0001t0004g0374a0001c0004t0004g0034others(34): Show | 37 | 402 | 0.0920 | 7 | c.125 others(24): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6181221 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01891.hp1 others(11): Show |
a0004a0007a0010others(1): Show | a0004c0003a0007c0008a0010c0013others(1): Show | a0004c0003t0001a0004c0003t0002a0007c0008t0002others(2): Show | a0004c0003t0001g0043a0004c0003t0001g0045a0004c0003t0001g0047others(11): Show | 14 | 262 | 0.0534 | 7 | c.907 others(24): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6197813 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG02109.hp1 HG03486.hp1 HG03516.hp2 others(1): Show |
a0003 | a0003c0004a0003c0012 | a0003c0004t0002a0003c0012t0002 | a0003c0004t0002g0007a0003c0004t0002g0008a0003c0004t0002g0010others(1): Show | 4 | 262 | 0.0153 | 7 | c.*51 others(18): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 4723 | chr19 | TogoVar | ||||||
ACSF3_chr16_89088852_89161233 | 89147350 | G | GTGAGGGA | intron_variant | MODIFIER | HG02109.hp2 HG02965.hp1 NA19010.hp2 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0017 | a0001c0001t0001a0002c0002t0006a0005c0017t0035 | a0001c0001t0001g0270a0002c0002t0006g0224a0005c0017t0035g0359 | 3 | 368 | 0.0082 | 7 | c.161 others(26): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
ACSL1_chr4_184750595_184830968 | 184785600 | C | CCGGGGGG | intron_variant | MODIFIER | HG00544.hp1 HG00741.hp2 HG01071.hp2 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0025a0001c0003t0003g0099a0001c0003t0003g0144others(8): Show | 11 | 392 | 0.0281 | 7 | c.311 others(24): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
ACSL1_chr4_184750595_184830968 | 184793165 | C | CTTTAATG | intron_variant | MODIFIER | HG01361.hp2 HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0305 | 3 | 392 | 0.0077 | 7 | c.196 others(24): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 2/20 | chr4 | TogoVar | ||||||
ACSL3_chr2_222856036_222949639 | 222901964 | A | AAAAAATG | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(76): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0017a0001c0001t0025others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(73): Show | 79 | 252 | 0.3135 | 7 | c.-41 others(24): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 3/16 | chr2 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112417201 | T | TAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00738.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0087a0001c0001t0001g0094a0001c0001t0001g0095others(17): Show | 20 | 364 | 0.0550 | 7 | c.121 others(24): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSM1_chr16_20618235_20702680 | 20622114 | G | GTGTGTGT | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(5): Show | 8 | 318 | 0.0252 | 7 | c.*13 others(18): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1120 | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20483569 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01106.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0002others(3): Show | a0001c0001t0001g0059a0001c0001t0001g0069a0001c0001t0001g0149others(8): Show | 11 | 436 | 0.0252 | 7 | c.162 others(24): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM2B_chr16_20531226_20581367 | 20566700 | A | ATATATAC | intron_variant | MODIFIER | HG02074.hp2 HG02486.hp1 HG03130.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0007others(4): Show | a0001c0001t0001g0204a0001c0001t0001g0205a0001c0001t0001g0207others(13): Show | 17 | 388 | 0.0438 | 7 | c.-8- others(22): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566700 | A | ATATATAG | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG02717.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0007a0003c0008 | a0001c0001t0001a0003c0007t0014a0003c0008t0001others(1): Show | a0001c0001t0001g0168a0001c0001t0001g0169a0003c0007t0014g0340others(5): Show | 9 | 388 | 0.0232 | 7 | c.-8- others(22): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20432847 | C | CTTTTTTT | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01175.hp1 others(23): Show |
a0001a0007 | a0001c0001a0001c0021a0001c0036others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0048others(17): Show | 26 | 434 | 0.0599 | 7 | c.130 others(26): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81251670 | A | AAAAAAAG | intron_variant | MODIFIER | HG01070.hp1 HG01167.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0023a0001c0002t0002 | a0001c0001t0008g0074a0001c0001t0008g0075a0001c0001t0008g0076others(13): Show | 16 | 290 | 0.0552 | 7 | c.172 others(26): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACTN1_chr14_68869128_68984302 | 68899465 | A | ACAGCCCC | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01243.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0138a0001c0001t0001g0140a0001c0001t0001g0141others(32): Show | 35 | 284 | 0.1232 | 7 | c.762 others(24): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68978899 | C | CGGGGCTG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00738.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0005a0001c0002t0003others(1): Show | a0001c0001t0001g0170a0001c0001t0001g0171a0001c0001t0001g0172others(9): Show | 12 | 284 | 0.0423 | 7 | c.105 others(20): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236686571 | G | GCGCCCGC | 5_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01168.hp2 others(21): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0006a0001c0001t0015a0001c0001t0017others(11): Show | a0001c0001t0006g0135a0001c0001t0015g0116a0001c0001t0017g0097others(21): Show | 24 | 344 | 0.0698 | 7 | c.-84 others(14): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/21 | 77 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
ACTN2_chr1_236681499_236769631 | 236721006 | C | CTGGTTTT | intron_variant | MODIFIER | HG01243.hp2 HG03195.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0002a0001c0004t0005 | a0001c0001t0004g0102a0001c0004t0002g0062a0001c0004t0002g0064others(1): Show | 4 | 344 | 0.0116 | 7 | c.448 others(22): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236732425 | C | CTTTTTAT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(150): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0041a0001c0001t0001g0139a0001c0001t0001g0141others(150): Show | 153 | 344 | 0.4448 | 7 | c.697 others(24): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236742285 | T | TGGGAACG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(83): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0031others(83): Show | 86 | 344 | 0.2500 | 7 | c.110 others(24): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236755631 | A | AATAGAGT | intron_variant | MODIFIER | HG02080.hp2 HG03195.hp1 HG03471.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0008 | a0001c0001t0011a0002c0005t0004a0002c0008t0004 | a0001c0001t0011g0067a0001c0001t0011g0090a0002c0005t0004g0009others(3): Show | 6 | 344 | 0.0174 | 7 | c.215 others(24): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236765675 | A | AAAAAAAG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(76): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0018a0001c0002t0002others(12): Show | a0001c0001t0002g0156a0001c0001t0018g0088a0001c0001t0018g0303others(76): Show | 79 | 344 | 0.2297 | 7 | c.*30 others(18): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1045 | chr1 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65225849 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01074.hp1 others(53): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0002g0029others(42): Show | 56 | 326 | 0.1718 | 7 | c.-20 others(18): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1981 | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65267862 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG01884.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(2): Show | a0001c0001t0002g0039a0001c0001t0002g0069a0001c0001t0002g0256others(15): Show | 24 | 326 | 0.0736 | 7 | c.101 others(24): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152785512 | G | GAGAGAGA | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01109.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(33): Show | 36 | 310 | 0.1161 | 7 | c.100 others(24): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152789043 | A | ATAAACAG | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01952.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0006a0002c0006t0001 | a0001c0001t0001g0184a0001c0001t0001g0186a0001c0001t0001g0187others(14): Show | 17 | 310 | 0.0548 | 7 | c.100 others(24): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | chr7 | TogoVar |