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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH8_chr6_38710311_39035792 | 38773291 | G | GCCCACCT | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG01169.hp2 others(22): Show |
a0003a0013a0033others(2): Show | a0003c0002a0003c0017a0003c0047others(6): Show | a0003c0002t0001a0003c0017t0001a0003c0047t0001others(6): Show | a0003c0002t0001g0017a0003c0002t0001g0036a0003c0002t0001g0060others(22): Show | 25 | 284 | 0.0880 | 7 | c.176 others(26): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 12/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38818537 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG01169.hp2 others(18): Show |
a0003a0011a0013others(2): Show | a0003c0002a0003c0017a0003c0050others(4): Show | a0003c0002t0001a0003c0017t0001a0003c0050t0001others(4): Show | a0003c0002t0001g0017a0003c0002t0001g0036a0003c0002t0001g0060others(18): Show | 21 | 284 | 0.0739 | 7 | c.352 others(26): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 26/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38861949 | G | GTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(116): Show |
a0001a0003a0004others(36): Show | a0001c0035a0001c0040a0001c0105others(65): Show | a0001c0035t0001a0001c0040t0001a0001c0105t0001others(67): Show | a0001c0035t0001g0166a0001c0035t0001g0171a0001c0040t0001g0253others(116): Show | 119 | 284 | 0.4190 | 7 | c.613 others(24): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 43/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11711973 | T | TATATAAA | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp2 HG02965.hp1 others(1): Show |
a0018a0063a0064 | a0018c0149a0018c0150a0063c0141others(1): Show | a0018c0149t0001a0018c0150t0002a0063c0141t0001others(1): Show | a0018c0149t0001g0011a0018c0150t0002g0012a0063c0141t0001g0148others(1): Show | 4 | 178 | 0.0225 | 7 | c.555 others(26): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11727047 | C | CAAAAAAA | intron_variant | MODIFIER | HG02080.hp1 HG02486.hp2 HG02965.hp1 others(2): Show |
a0004a0018a0027 | a0004c0042a0004c0043a0018c0149others(2): Show | a0004c0042t0001a0004c0043t0001a0018c0149t0001others(2): Show | a0004c0042t0001g0040a0004c0043t0001g0140a0018c0149t0001g0011others(2): Show | 5 | 178 | 0.0281 | 7 | c.571 others(24): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 27/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11856543 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG02071.hp1 HG02486.hp2 others(6): Show |
a0001a0006a0016others(5): Show | a0001c0082a0001c0129a0006c0047others(6): Show | a0001c0082t0001a0001c0129t0001a0006c0047t0001others(6): Show | a0001c0082t0001g0104a0001c0129t0001g0112a0006c0047t0001g0068others(6): Show | 9 | 178 | 0.0506 | 7 | c.993 others(26): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 50/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11900503 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(62): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0003a0001c0012others(52): Show | a0001c0001t0001a0001c0003t0001a0001c0012t0001others(52): Show | a0001c0001t0001g0032a0001c0001t0001g0088a0001c0001t0001g0124others(62): Show | 65 | 178 | 0.3652 | 7 | c.114 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 59/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11903910 | T | TAAAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(130): Show |
a0001a0002a0003others(51): Show | a0001c0001a0001c0002a0001c0003others(108): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(108): Show | a0001c0001t0001g0028a0001c0001t0001g0032a0001c0001t0001g0082others(130): Show | 133 | 178 | 0.7472 | 7 | c.116 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 60/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11903917 | G | GAAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02486.hp1 others(10): Show |
a0001a0008a0009others(10): Show | a0001c0127a0008c0068a0009c0025others(10): Show | a0001c0127t0001a0008c0068t0001a0009c0025t0002others(10): Show | a0001c0127t0001g0052a0008c0068t0001g0099a0009c0025t0002g0019others(10): Show | 13 | 178 | 0.0730 | 7 | c.116 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 60/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11920035 | C | CTTTCTTT | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00597.hp1 others(43): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0002a0001c0003others(39): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(39): Show | a0001c0001t0001g0028a0001c0001t0001g0082a0001c0001t0001g0139others(43): Show | 46 | 178 | 0.2584 | 7 | c.117 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 61/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11920035 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00621.hp2 others(13): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0012a0001c0099others(13): Show | a0001c0001t0001a0001c0012t0001a0001c0099t0001others(13): Show | a0001c0001t0001g0088a0001c0012t0001g0035a0001c0099t0001g0095others(13): Show | 16 | 178 | 0.0899 | 7 | c.117 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 61/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11947901 | C | CCTCCCGG | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp1 HG02717.hp1 others(1): Show |
a0001a0008a0071others(1): Show | a0001c0127a0008c0132a0071c0087others(1): Show | a0001c0127t0001a0008c0132t0001a0071c0087t0001others(1): Show | a0001c0127t0001g0052a0008c0132t0001g0058a0071c0087t0001g0120others(1): Show | 4 | 178 | 0.0225 | 7 | c.128 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 67/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11960435 | T | TAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG01978.hp2 HG02165.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0099a0001c0100others(3): Show | a0001c0003t0001a0001c0099t0001a0001c0100t0001others(3): Show | a0001c0003t0001g0174a0001c0099t0001g0095a0001c0100t0001g0056others(3): Show | 6 | 178 | 0.0337 | 7 | c.128 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 67/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAI2_chr17_74269234_74319884 | 74295233 | T | TAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01891.hp1 others(4): Show |
a0001a0002a0007 | a0001c0002a0001c0034a0002c0015others(1): Show | a0001c0002t0002a0001c0034t0003a0002c0015t0003others(1): Show | a0001c0002t0002g0338a0001c0034t0003g0210a0002c0015t0003g0003others(3): Show | 7 | 398 | 0.0176 | 7 | c.724 others(24): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAI3_chr1_85057327_85138138 | 85069356 | T | TCTCACCA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(281): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(8): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0075others(276): Show | 284 | 374 | 0.7594 | 7 | c.-14 others(24): Show |
DNAI3 | ENSG00000162643.13 | transcript | ENST00000294664.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAI3_chr1_85057327_85138138 | 85114015 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(80): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0009a0001c0001t0001g0018a0001c0001t0001g0029others(79): Show | 83 | 374 | 0.2219 | 7 | c.178 others(26): Show |
DNAI3 | ENSG00000162643.13 | transcript | ENST00000294664.11 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAJA2_chr16_46950362_46978674 | 46971661 | T | TAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(103): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(64): Show | 106 | 280 | 0.3786 | 7 | c.139 others(20): Show |
DNAJA2 | ENSG00000069345.12 | transcript | ENST00000317089.10 | protein_coding | 2/8 | chr16 | TogoVar | ||||||
DNAJB13_chr11_73946026_73975281 | 73954000 | A | ATAATAAT | intron_variant | MODIFIER | HG02622.hp1 NA18948.hp1 NA18950.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0289a0002c0003t0001g0040a0002c0003t0001g0041others(1): Show | 7 | 436 | 0.0161 | 7 | c.68+ others(22): Show |
DNAJB13 | ENSG00000187726.9 | transcript | ENST00000339764.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
DNAJB5_chr9_34984745_35003428 | 34986086 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00735.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0008others(17): Show | 43 | 450 | 0.0956 | 7 | c.-38 others(18): Show |
DNAJB5 | ENSG00000137094.16 | transcript | ENST00000682809.1 | protein_coding | 3658 | chr9 | TogoVar | ||||||
DNAJB6_chr7_157332004_157422439 | 157346316 | T | TAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(99): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0062a0001c0001t0001g0150a0001c0001t0001g0159others(99): Show | 102 | 372 | 0.2742 | 7 | c.-27 others(24): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAJB6_chr7_157332004_157422439 | 157420831 | C | CCCAGGAG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(98): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(98): Show | 101 | 372 | 0.2715 | 7 | c.*47 others(18): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 3393 | chr7 | TogoVar | ||||||
DNAJB6_chr7_157332004_157422439 | 157422153 | G | GCCCCTCT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(110): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(110): Show | 113 | 372 | 0.3038 | 7 | c.*60 others(18): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 4715 | chr7 | TogoVar | ||||||
DNAJB7_chr22_40854549_40867113 | 40855875 | G | GACAGTGT | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02280.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 19 | 410 | 0.0463 | 7 | c.*51 others(18): Show |
DNAJB7 | ENSG00000172404.5 | transcript | ENST00000307221.5 | protein_coding | 3673 | chr22 | TogoVar | ||||||
DNAJC11_chr1_6629170_6706816 | 6695627 | T | TAAAAAAA | intron_variant | MODIFIER | HG00621.hp2 HG01175.hp1 HG02040.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0099a0001c0001t0002g0090a0001c0001t0002g0091others(11): Show | 14 | 366 | 0.0383 | 7 | c.72+ others(22): Show |
DNAJC11 | ENSG00000007923.17 | transcript | ENST00000377577.10 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67801836 | C | CTTTTTTT | intron_variant | MODIFIER | HG00673.hp2 HG02056.hp1 HG02615.hp1 others(15): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0001g0101a0001c0001t0005g0111a0001c0001t0005g0123others(15): Show | 18 | 384 | 0.0469 | 7 | c.502 others(24): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
DNAJC13_chr3_132412502_132544032 | 132506045 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00609.hp2 others(85): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0003a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0070a0001c0001t0001g0166a0001c0001t0001g0199others(84): Show | 88 | 318 | 0.2767 | 7 | c.499 others(24): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DNAJC15_chr13_43018586_43119213 | 43021100 | A | AAATAATG | upstream_gene_variant | MODIFIER | HG03139.hp1 HG03195.hp1 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0128a0001c0002t0025g0129a0001c0002t0025g0135 | 3 | 352 | 0.0085 | 7 | c.-25 others(18): Show |
DNAJC15 | ENSG00000120675.6 | transcript | ENST00000379221.4 | protein_coding | 2485 | chr13 | TogoVar | ||||||
DNAJC15_chr13_43018586_43119213 | 43024893 | T | TAAGAAAA | intron_variant | MODIFIER | HG01884.hp2 HG02056.hp1 HG02165.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0019a0002c0003t0015a0002c0003t0019others(2): Show | a0001c0001t0019g0051a0002c0003t0015g0003a0002c0003t0015g0025others(7): Show | 11 | 352 | 0.0313 | 7 | c.108 others(24): Show |
DNAJC15 | ENSG00000120675.6 | transcript | ENST00000379221.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC16_chr1_15521848_15576733 | 15524058 | C | CGGGGGCG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(211): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(188): Show | 214 | 356 | 0.6011 | 7 | c.-29 others(18): Show |
DNAJC16 | ENSG00000116138.13 | transcript | ENST00000375847.8 | protein_coding | 2789 | chr1 | TogoVar | ||||||
DNAJC18_chr5_139405203_139444525 | 139424717 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG02129.hp1 HG02809.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0004a0001c0001t0003g0019a0001c0001t0003g0153others(5): Show | 12 | 314 | 0.0382 | 7 | c.669 others(22): Show |
DNAJC18 | ENSG00000170464.10 | transcript | ENST00000302060.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
DNAJC3_chr13_95672139_95799988 | 95704849 | G | GTTTTTTT | intron_variant | MODIFIER | HG02622.hp1 HG02818.hp1 HG03453.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0012a0001c0001t0018a0001c0001t0041others(2): Show | a0001c0001t0012g0362a0001c0001t0018g0366a0001c0001t0018g0368others(3): Show | 6 | 374 | 0.0160 | 7 | c.83- others(22): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC5G_chr2_27270433_27286499 | 27277267 | T | TTTGTTTG | intron_variant | MODIFIER | HG00733.hp1 HG01074.hp1 HG01167.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0005 | a0002c0002t0004g0031a0002c0002t0004g0049a0002c0002t0004g0050others(4): Show | 9 | 340 | 0.0265 | 7 | c.113 others(22): Show |
DNAJC5G | ENSG00000163793.13 | transcript | ENST00000296097.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAJC7_chr17_41971435_42022439 | 41986047 | T | TAAAAAAA | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02602.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0046a0001c0001t0001g0060others(8): Show | 12 | 338 | 0.0355 | 7 | c.101 others(26): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 9/13 | chr17 | TogoVar | ||||||
DNAJC7_chr17_41971435_42022439 | 42006796 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(97): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(91): Show | 100 | 338 | 0.2959 | 7 | c.78- others(22): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73681629 | A | ATATATAT | intron_variant | MODIFIER | HG00544.hp2 HG02027.hp1 HG03017.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015a0001c0001t0095 | a0001c0001t0005g0117a0001c0001t0015g0109a0001c0001t0015g0122others(1): Show | 4 | 340 | 0.0118 | 7 | c.265 others(24): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
DNASE1L1_chrX_154396236_154414254 | 154396713 | T | TATATATA | downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 279 | 0.0036 | 7 | c.*59 others(18): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4522 | chrX | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229413321 | C | CTTTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00735.hp2 others(34): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0023a0001c0001t0001g0029a0001c0001t0001g0037others(34): Show | 37 | 176 | 0.2102 | 7 | c.160 others(26): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 9/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229681866 | A | ACACACAC | intron_variant | MODIFIER | HG01167.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0080 | 2 | 176 | 0.0114 | 7 | c.276 others(26): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
DNM1L_chr12_32674301_32750650 | 32717928 | T | TAAATATA | intron_variant | MODIFIER | HG02132.hp2 HG03834.hp2 HG03927.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0216a0001c0003t0010g0217a0001c0003t0010g0218others(1): Show | 4 | 230 | 0.0174 | 7 | c.620 others(22): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 6/19 | chr12 | TogoVar | ||||||
DNM1L_chr12_32674301_32750650 | 32731807 | A | AAAAAAAC | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(52): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0002a0001c0002t0013a0001c0002t0016others(5): Show | a0001c0002t0002g0001a0001c0002t0002g0016a0001c0002t0002g0019others(51): Show | 55 | 230 | 0.2391 | 7 | c.135 others(22): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNM2_chr19_10713079_10836903 | 10726181 | T | TGCAGTCC | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01070.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0016a0001c0002t0001g0001others(15): Show | 18 | 278 | 0.0648 | 7 | c.161 others(24): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DNM2_chr19_10713079_10836903 | 10779502 | C | CTTTCTTT | intron_variant | MODIFIER | HG01516.hp2 HG01934.hp2 HG01981.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0016a0001c0001t0003g0155a0001c0002t0002g0008others(9): Show | 12 | 278 | 0.0432 | 7 | c.688 others(24): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DNM2_chr19_10713079_10836903 | 10820159 | T | TCACTGAG | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255a0001c0001t0001g0256a0001c0001t0001g0262 | 3 | 278 | 0.0108 | 7 | c.178 others(22): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DNM3_chr1_171836498_172417717 | 171901112 | C | CAAAAAAA | intron_variant | MODIFIER | HG01081.hp2 HG01515.hp1 HG02109.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(3): Show | a0001c0001t0001g0039a0001c0001t0003g0029a0001c0001t0013g0049others(6): Show | 9 | 136 | 0.0662 | 7 | c.162 others(26): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNM3_chr1_171836498_172417717 | 172020721 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG01192.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0033a0001c0002t0001others(6): Show | a0001c0001t0008g0095a0001c0001t0033g0096a0001c0002t0001g0048others(9): Show | 12 | 136 | 0.0882 | 7 | c.590 others(26): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNM3_chr1_171836498_172417717 | 172045008 | T | TGAGGCTG | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(131): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0030others(131): Show | 134 | 136 | 0.9853 | 7 | c.119 others(24): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNM3_chr1_171836498_172417717 | 172106847 | C | CTTTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG01517.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0030a0001c0001t0001g0072a0001c0001t0003g0041others(15): Show | 18 | 136 | 0.1324 | 7 | c.154 others(28): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNM3_chr1_171836498_172417717 | 172372055 | T | TCCCTCCC | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 NA18977.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0082a0001c0001t0003g0136a0001c0002t0003g0053 | 3 | 136 | 0.0221 | 7 | c.189 others(26): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNMBP_chr10_99870577_100014947 | 99883638 | C | CAAAAAAA | intron_variant | MODIFIER | HG03516.hp1 HG04204.hp1 NA18978.hp2 others(3): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0007t0008 | a0002c0002t0001g0004a0002c0002t0001g0150a0002c0002t0001g0172others(3): Show | 6 | 274 | 0.0219 | 7 | c.399 others(24): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 15/16 | chr10 | TogoVar | ||||||
DNMBP_chr10_99870577_100014947 | 99915108 | A | AAAAATAT | intron_variant | MODIFIER | HG01928.hp2 HG02280.hp2 HG02559.hp1 others(3): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0007t0008 | a0002c0002t0001g0005a0002c0002t0001g0145a0002c0002t0001g0203others(3): Show | 6 | 274 | 0.0219 | 7 | c.226 others(26): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 4/16 | chr10 | TogoVar |