| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MTUS2_chr13_28815339_29510947 | 29383252 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0025 | 1 | 92 | 0.0109 | 20 | c.311 others(41): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MTUS2_chr13_28815339_29510947 | 29389570 | C | CACGTGTG others(13): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03540.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0026 | a0002c0002t0001g0014a0002c0002t0026g0036 | 2 | 92 | 0.0217 | 20 | c.311 others(41): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MTX2_chr2_176264442_176343025 | 176313388 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 348 | 0.0029 | 20 | c.136 others(38): Show |
MTX2 | ENSG00000128654.14 | transcript | ENST00000249442.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MUC12_chr7_100964565_101023936 | 101018217 | T | TTCCCTTC others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(301): Show |
a0001a0002a0003others(237): Show | a0001c0001a0001c0168a0002c0004others(249): Show | a0001c0001t0001a0001c0168t0001a0002c0004t0001others(250): Show | a0001c0001t0001g0004a0001c0001t0001g0019a0001c0001t0001g0197others(289): Show | 304 | 342 | 0.8889 | 20 | c.159 others(39): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MUC12_chr7_100964565_101023936 | 101018311 | A | ACTCTCCC others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01074.hp2 others(1): Show |
a0011a0045a0046 | a0011c0009a0045c0044a0046c0045 | a0011c0009t0001a0045c0044t0001a0046c0045t0001 | a0011c0009t0001g0137a0011c0009t0001g0139a0045c0044t0001g0140others(1): Show | 4 | 342 | 0.0117 | 20 | c.159 others(39): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MUC13_chr3_124900442_124939751 | 124909485 | C | CATGTGTG others(13): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0320 | 1 | 452 | 0.0022 | 20 | c.133 others(37): Show |
MUC13 | ENSG00000173702.7 | transcript | ENST00000616727.4 | protein_coding | 10/11 | chr3 | TogoVar | ||||||
| MUC15_chr11_26554032_26577263 | 26576962 | T | TCTTTTTA others(13): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG01346.hp2 HG02015.hp2 others(18): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0005a0001c0003t0002a0001c0003t0004others(6): Show | a0001c0002t0005g0227a0001c0003t0002g0200a0001c0003t0004g0201others(17): Show | 21 | 466 | 0.0451 | 20 | c.-49 others(31): Show |
MUC15 | ENSG00000169550.14 | transcript | ENST00000529533.6 | protein_coding | 4700 | chr11 | TogoVar | ||||||
| MUC17_chr7_101015081_101063859 | 101018217 | T | TTCCCTTC others(13): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(283): Show |
a0001a0002a0003others(63): Show | a0001c0001a0001c0083a0001c0096others(89): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(102): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0006others(241): Show | 286 | 366 | 0.7814 | 20 | c.-19 others(31): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 1863 | chr7 | TogoVar | ||||||
| MUC17_chr7_101015081_101063859 | 101018311 | A | ACTCTCCC others(13): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01074.hp2 others(1): Show |
a0002a0007 | a0002c0007a0007c0082 | a0002c0007t0001a0007c0082t0001 | a0002c0007t0001g0223a0002c0007t0001g0224a0002c0007t0001g0244others(1): Show | 4 | 366 | 0.0109 | 20 | c.-18 others(31): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 1769 | chr7 | TogoVar | ||||||
| MUC20_chr3_195715978_195738551 | 195738099 | C | CTGTGTGT others(13): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 NA18949.hp1 NA19043.hp2 |
a0003a0049a0053 | a0003c0005a0049c0044a0053c0027 | a0003c0005t0002a0049c0044t0002a0053c0027t0007 | a0003c0005t0002g0091a0049c0044t0002g0014a0053c0027t0007g0100 | 3 | 185 | 0.0162 | 20 | c.*48 others(31): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 4549 | chr3 | TogoVar | ||||||
| MUC21_chr6_30978718_30994903 | 30980984 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | NA18939.hp2 NA18944.hp1 NA18968.hp2 others(4): Show |
a0003a0007 | a0003c0009a0007c0012 | a0003c0009t0007a0003c0009t0033a0007c0012t0007 | a0003c0009t0007g0007a0003c0009t0033g0007a0007c0012t0007g0007 | 7 | 448 | 0.0156 | 20 | c.-29 others(31): Show |
MUC21 | ENSG00000204544.5 | transcript | ENST00000376296.3 | protein_coding | 2733 | chr6 | TogoVar | ||||||
| MUC21_chr6_30978718_30994903 | 30984996 | C | CAATAAAA others(13): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01255.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0002a0003c0005others(1): Show | a0001c0003t0012a0001c0003t0015a0001c0003t0021others(5): Show | a0001c0003t0012g0012a0001c0003t0015g0012a0001c0003t0021g0012others(5): Show | 13 | 448 | 0.0290 | 20 | c.61+ others(35): Show |
MUC21 | ENSG00000204544.5 | transcript | ENST00000376296.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| MUC21_chr6_30978718_30994903 | 30992561 | T | TTTTATTT others(13): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01257.hp1 others(15): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0005a0003c0009others(2): Show | a0001c0001t0001a0003c0005t0002a0003c0005t0008others(5): Show | a0001c0001t0001g0046a0003c0005t0002g0014a0003c0005t0002g0025others(7): Show | 18 | 448 | 0.0402 | 20 | c.*43 others(31): Show |
MUC21 | ENSG00000204544.5 | transcript | ENST00000376296.3 | protein_coding | 2659 | chr6 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195744089 | T | TTTTATTT others(13): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG02647.hp1 HG03098.hp1 others(4): Show |
a0035a0049a0056others(4): Show | a0035c0151a0049c0145a0056c0142others(4): Show | a0035c0151t0007a0049c0145t0008a0056c0142t0007others(4): Show | a0035c0151t0007g0186a0049c0145t0008g0055a0056c0142t0007g0006others(4): Show | 7 | 249 | 0.0281 | 20 | c.*30 others(31): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2681 | chr3 | TogoVar | ||||||
| MUC5AC_chr11_1152953_1206138 | 1155978 | T | TTCACTCA others(13): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01168.hp2 HG02818.hp1 others(2): Show |
a0009a0010a0016others(1): Show | a0009c0020a0010c0019a0016c0029others(1): Show | a0009c0020t0002a0010c0019t0002a0016c0029t0002others(1): Show | a0009c0020t0002g0008a0010c0019t0002g0007a0016c0029t0002g0046others(1): Show | 5 | 292 | 0.0171 | 20 | c.-20 others(31): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 1974 | chr11 | TogoVar | ||||||
| MUC5AC_chr11_1152953_1206138 | 1159532 | T | TCTGTGCG others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01978.hp1 NA18612.hp1 others(2): Show |
a0002a0005a0008others(1): Show | a0002c0005a0005c0008a0005c0022others(2): Show | a0002c0005t0001a0005c0008t0001a0005c0022t0001others(2): Show | a0002c0005t0001g0119a0005c0008t0001g0118a0005c0022t0001g0053others(2): Show | 5 | 292 | 0.0171 | 20 | c.74- others(34): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 1/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MUC5AC_chr11_1152953_1206138 | 1159532 | T | TCTGTGCG others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03540.hp1 |
a0002 | a0002c0002a0002c0097 | a0002c0002t0001a0002c0097t0001 | a0002c0002t0001g0123a0002c0097t0001g0122 | 2 | 292 | 0.0069 | 20 | c.74- others(35): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 1/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MUC5AC_chr11_1152953_1206138 | 1159538 | C | CGGGGCTG others(13): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02486.hp2 HG02622.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0013a0002c0002a0003c0006others(1): Show | a0001c0013t0001a0002c0002t0001a0003c0006t0001others(1): Show | a0001c0013t0001g0083a0001c0013t0001g0131a0002c0002t0001g0130others(4): Show | 10 | 292 | 0.0343 | 20 | c.74- others(35): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 1/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MUC5AC_chr11_1152953_1206138 | 1159853 | C | CGGGGCTG others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(129): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(47): Show | a0001c0001t0001a0001c0004t0001a0001c0011t0001others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0012others(112): Show | 132 | 292 | 0.4521 | 20 | c.74- others(33): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 1/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110689185 | A | AATATAAA others(13): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0103 | 1 | 326 | 0.0031 | 20 | c.358 others(37): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | chr9 | TogoVar | ||||||
| MUTYH_chr1_45324242_45344970 | 45324438 | C | CTAAATAA others(13): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02886.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0030a0001c0001t0001g0059a0004c0005t0001g0038 | 4 | 402 | 0.0100 | 20 | c.*48 others(31): Show |
MUTYH | ENSG00000132781.21 | transcript | ENST00000456914.7 | protein_coding | 4803 | chr1 | TogoVar | ||||||
| MUTYH_chr1_45324242_45344970 | 45326473 | C | CGTGTGTG others(13): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG03654.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0007 | 2 | 402 | 0.0050 | 20 | c.*28 others(31): Show |
MUTYH | ENSG00000132781.21 | transcript | ENST00000456914.7 | protein_coding | 2768 | chr1 | TogoVar | ||||||
| MUTYH_chr1_45324242_45345440 | 45324438 | C | CTAAATAA others(13): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02886.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0029a0001c0001t0001g0062a0004c0005t0001g0037 | 4 | 404 | 0.0099 | 20 | c.*48 others(31): Show |
MUTYH | ENSG00000132781.21 | transcript | ENST00000710952.2 | protein_coding | 4803 | chr1 | TogoVar | ||||||
| MUTYH_chr1_45324242_45345440 | 45326473 | C | CGTGTGTG others(13): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG03654.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0007 | 2 | 404 | 0.0050 | 20 | c.*28 others(31): Show |
MUTYH | ENSG00000132781.21 | transcript | ENST00000710952.2 | protein_coding | 2768 | chr1 | TogoVar | ||||||
| MVB12B_chr9_126321829_126512040 | 126413849 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00642.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223a0001c0001t0001g0226 | 2 | 318 | 0.0063 | 20 | c.663 others(37): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MVK_chr12_109568794_109603125 | 109600672 | C | CTGTGTGT others(13): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0012a0001c0002t0002g0002a0001c0002t0002g0019others(6): Show | 16 | 382 | 0.0419 | 20 | c.*40 others(31): Show |
MVK | ENSG00000110921.14 | transcript | ENST00000228510.8 | protein_coding | 2548 | chr12 | TogoVar | ||||||
| MVK_chr12_109568794_109603125 | 109600916 | T | TACACACA others(13): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0139 | 1 | 382 | 0.0026 | 20 | c.*43 others(31): Show |
MVK | ENSG00000110921.14 | transcript | ENST00000228510.8 | protein_coding | 2792 | chr12 | TogoVar | ||||||
| MVP_chr16_29815462_29853021 | 29843538 | A | AAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18965.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046a0001c0002t0001g0053 | 2 | 230 | 0.0087 | 20 | c.163 others(37): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MVP_chr16_29815462_29853021 | 29843546 | A | AAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01433.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0068a0001c0001t0001g0114a0001c0001t0001g0181others(2): Show | 5 | 230 | 0.0217 | 20 | c.163 others(37): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MVP_chr16_29815462_29853021 | 29843546 | A | AAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG03098.hp2 HG03130.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0189a0001c0001t0001g0210a0001c0002t0001g0045 | 3 | 230 | 0.0130 | 20 | c.163 others(37): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MVP_chr16_29815462_29853021 | 29843546 | A | AAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 230 | 0.0044 | 20 | c.163 others(37): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MVP_chr16_29815462_29853021 | 29843550 | G | GAGGAAGG others(13): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18945.hp2 NA18967.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0119a0001c0001t0001g0170a0002c0003t0001g0153others(1): Show | 4 | 230 | 0.0174 | 20 | c.163 others(37): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MVP_chr16_29815462_29853021 | 29843574 | G | GAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG02970.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209a0001c0001t0001g0218 | 2 | 230 | 0.0087 | 20 | c.163 others(37): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MXD4_chr4_2242432_2267109 | 2244069 | G | GAGACAGA others(13): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG02257.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 366 | 0.0082 | 20 | c.*64 others(31): Show |
MXD4 | ENSG00000123933.17 | transcript | ENST00000337190.7 | protein_coding | 3362 | chr4 | TogoVar | ||||||
| MXI1_chr10_110202605_110292365 | 110216665 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01433.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0193a0001c0001t0002g0057a0001c0001t0002g0191others(5): Show | 8 | 372 | 0.0215 | 20 | c.274 others(37): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MXI1_chr10_110202605_110292365 | 110227157 | A | ACGCGCGT others(13): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0304 | 1 | 372 | 0.0027 | 20 | c.275 others(37): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MXRA5_chrX_3303565_3351652 | 3350669 | A | AATATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 HG03041.hp1 |
a0005a0021 | a0005c0005a0021c0018 | a0005c0005t0002a0021c0018t0007 | a0005c0005t0002g0135a0021c0018t0007g0134 | 2 | 284 | 0.0070 | 20 | c.-41 others(31): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4018 | chrX | TogoVar | ||||||
| MXRA5_chrX_3303565_3351652 | 3350697 | T | TATATACA others(13): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 284 | 0.0035 | 20 | c.-42 others(31): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4046 | chrX | TogoVar | ||||||
| MXRA7_chr17_76674566_76715965 | 76695353 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0295 | 1 | 416 | 0.0024 | 20 | c.343 others(37): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
| MYBL2_chr20_43662114_43721482 | 43698351 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03516.hp2 NA18973.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061a0001c0002t0001g0065 | 2 | 274 | 0.0073 | 20 | c.664 others(37): Show |
MYBL2 | ENSG00000101057.16 | transcript | ENST00000217026.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYBPC2_chr19_50427892_50471321 | 50452508 | G | GTATCTAT others(13): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01928.hp1 HG02451.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0001 | a0001c0001t0001g0195a0001c0001t0001g0207a0001c0001t0001g0209others(2): Show | 5 | 396 | 0.0126 | 20 | c.174 others(37): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MYBPC2_chr19_50427892_50471321 | 50452508 | G | GTATGTAT others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01346.hp2 others(1): Show |
a0001a0034 | a0001c0001a0034c0026 | a0001c0001t0001a0034c0026t0001 | a0001c0001t0001g0204a0001c0001t0001g0276a0001c0001t0001g0347others(1): Show | 4 | 396 | 0.0101 | 20 | c.174 others(37): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MYBPC2_chr19_50427892_50471321 | 50452508 | G | GTATGTAT others(13): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0341 | 1 | 396 | 0.0025 | 20 | c.174 others(37): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MYBPC2_chr19_50427892_50471321 | 50456082 | G | GTCCATCC others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0332a0006c0008t0001g0318 | 2 | 396 | 0.0051 | 20 | c.233 others(37): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MYBPC3_chr11_47326406_47357702 | 47348908 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01261.hp1 others(18): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0010a0002c0014others(6): Show | a0001c0001t0001a0001c0010t0002a0002c0014t0001others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0052a0001c0001t0001g0054others(13): Show | 21 | 374 | 0.0562 | 20 | c.655 others(35): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | ||||||
| MYCBP2_chr13_77039657_77332094 | 77068408 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02717.hp2 HG02809.hp2 others(13): Show |
a0001 | a0001c0003a0001c0005a0001c0008 | a0001c0003t0001a0001c0005t0002a0001c0008t0001 | a0001c0003t0001g0015a0001c0003t0001g0016a0001c0003t0001g0017others(13): Show | 16 | 334 | 0.0479 | 20 | c.121 others(39): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 70/82 | chr13 | TogoVar | ||||||
| MYCBP2_chr13_77039657_77332094 | 77183541 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0019 | 1 | 334 | 0.0030 | 20 | c.471 others(39): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 32/82 | chr13 | TogoVar | ||||||
| MYCBP2_chr13_77039657_77332094 | 77285857 | G | GGGAAAGG others(13): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01981.hp2 HG02015.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0030a0001c0031others(3): Show | a0001c0002t0001a0001c0030t0001a0001c0031t0001others(3): Show | a0001c0002t0001g0001a0001c0002t0001g0101a0001c0002t0001g0103others(21): Show | 25 | 334 | 0.0749 | 20 | c.594 others(37): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | ||||||
| MYCBP2_chr13_77039657_77332094 | 77285889 | G | GAAAGGAA others(13): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0205 | 1 | 334 | 0.0030 | 20 | c.594 others(37): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | ||||||
| MYCBP2_chr13_77039657_77332094 | 77286789 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 334 | 0.0030 | 20 | c.594 others(37): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar |