view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTMR7_chr8_17291794_17418351 | 17366885 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02145.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0009a0001c0001t0011a0001c0002t0001others(1): Show | a0001c0001t0009g0009 a0001c0001t0011g0070 a0001c0002t0001g0008 others(4): Show |
7 | 360 | 0.0194 | 21 | c.310 others(38): Show |
MTMR7 | ENSG00000003987.14 | transcript | ENST00000180173.10 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
MTMR7_chr8_17291794_17418351 | 17408395 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02897.hp2 HG02965.hp1 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0008 | a0001c0002t0001g0100 a0001c0002t0002g0098 a0001c0002t0008g0099 |
3 | 360 | 0.0083 | 21 | c.24+ others(36): Show |
MTMR7 | ENSG00000003987.14 | transcript | ENST00000180173.10 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
MTMR8_chrX_64263081_64400452 | 64289636 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 a0001c0001t0001g0177 |
2 | 190 | 0.0105 | 21 | c.148 others(42): Show |
MTMR8 | ENSG00000102043.16 | transcript | ENST00000374852.4 | protein_coding | 12/13 | chrX | TogoVar | |||||||
MTMR8_chrX_64263081_64400452 | 64362471 | G | GAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 190 | 0.0053 | 21 | c.25- others(36): Show |
MTMR8 | ENSG00000102043.16 | transcript | ENST00000374852.4 | protein_coding | 1/13 | chrX | TogoVar | |||||||
MTO1_chr6_73456737_73514236 | 73492995 | T | TGTGTGTG others(14): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02818.hp1 HG03471.hp1 |
a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0090 a0001c0002t0027g0091 a0001c0002t0027g0092 |
3 | 396 | 0.0076 | 21 | c.175 others(38): Show |
MTO1 | ENSG00000135297.17 | transcript | ENST00000498286.6 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
MTREX_chr5_55302989_55430579 | 55363462 | G | GAAGTTAT others(14): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02895.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0309 a0001c0002t0001g0310 |
2 | 320 | 0.0063 | 21 | c.166 others(40): Show |
MTREX | ENSG00000039123.16 | transcript | ENST00000230640.10 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MTRF1_chr13_41211369_41268576 | 41259701 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02165.hp2 NA18952.hp1 NA18956.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0048 a0001c0001t0002g0057 others(8): Show |
14 | 332 | 0.0422 | 21 | c.415 others(36): Show |
MTRF1 | ENSG00000120662.16 | transcript | ENST00000379480.9 | protein_coding | 2/9 | chr13 | TogoVar | |||||||
MTRF1_chr13_41211369_41268576 | 41259701 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0009 | a0009c0012 | a0009c0012t0002 | a0009c0012t0002g0066 | 1 | 332 | 0.0030 | 21 | c.415 others(36): Show |
MTRF1 | ENSG00000120662.16 | transcript | ENST00000379480.9 | protein_coding | 2/9 | chr13 | TogoVar | |||||||
MTRF1_chr13_41211369_41268576 | 41259712 | A | AAAAAAAC others(14): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01071.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 others(4): Show |
7 | 332 | 0.0211 | 21 | c.415 others(36): Show |
MTRF1 | ENSG00000120662.16 | transcript | ENST00000379480.9 | protein_coding | 2/9 | chr13 | TogoVar | |||||||
MTTP_chr4_99569824_99628997 | 99580574 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02071.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0018 others(25): Show |
39 | 364 | 0.1071 | 21 | c.62- others(36): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTUS1_chr8_17638802_17806094 | 17641896 | T | TCCCCGCC others(14): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02896.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0012a0003c0041others(1): Show | a0001c0005t0007a0002c0012t0007a0003c0041t0007others(1): Show | a0001c0005t0007g0306 a0002c0012t0007g0325 a0003c0041t0007g0013 others(2): Show |
5 | 330 | 0.0152 | 21 | c.*40 others(32): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1905 | chr8 | TogoVar | |||||||
MTUS1_chr8_17638802_17806094 | 17733008 | T | TAAGTCAC others(14): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0004 | a0004c0018 | a0004c0018t0004 | a0004c0018t0004g0015 | 1 | 330 | 0.0030 | 21 | c.228 others(40): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 3/14 | chr8 | TogoVar | |||||||
MTUS2_chr13_28815339_29510947 | 28975463 | G | GCCTGCGG others(14): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0010 | a0010c0013 | a0010c0013t0002 | a0010c0013t0002g0055 | 1 | 92 | 0.0109 | 21 | c.-24 others(42): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29318391 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0003 | 1 | 92 | 0.0109 | 21 | c.280 others(40): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MUC12_chr7_100964565_101023936 | 101018214 | C | CCCCTTCC others(14): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0025 | a0025c0085 | a0025c0085t0001 | a0025c0085t0001g0153 | 1 | 342 | 0.0029 | 21 | c.159 others(40): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MUC17_chr7_101015081_101063859 | 101018214 | C | CCCCTTCC others(14): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 366 | 0.0027 | 21 | c.-19 others(32): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 1866 | chr7 | TogoVar | |||||||
MUC21_chr6_30978718_30994903 | 30980984 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | NA19090.hp1 | a0003 | a0003c0009 | a0003c0009t0007 | a0003c0009t0007g0007 | 1 | 448 | 0.0022 | 21 | c.-29 others(32): Show |
MUC21 | ENSG00000204544.5 | transcript | ENST00000376296.3 | protein_coding | 2733 | chr6 | TogoVar | |||||||
MUC22_chr6_31005474_31040402 | 31006821 | C | CTATTGAG others(14): Show |
upstream_gene_variant | MODIFIER | NA19059.hp1 | a0127 | a0127c0162 | a0127c0162t0001 | a0127c0162t0001g0178 | 1 | 461 | 0.0022 | 21 | c.-38 others(32): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 3652 | chr6 | TogoVar | |||||||
MUC22_chr6_31005474_31040402 | 31025113 | C | CCTGCCTT others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00642.hp2 others(63): Show |
a0003a0005a0013others(11): Show | a0003c0008a0003c0012a0005c0010others(17): Show | a0003c0008t0001a0003c0012t0001a0005c0010t0001others(21): Show | a0003c0008t0001g0004 a0003c0008t0001g0132 a0003c0008t0001g0133 others(42): Show |
66 | 461 | 0.1432 | 21 | c.71- others(34): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195745524 | T | TATATATA others(14): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02258.hp2 |
a0062a0075 | a0062c0200a0075c0201 | a0062c0200t0008a0075c0201t0009 | a0062c0200t0008g0222 a0075c0201t0009g0224 |
2 | 249 | 0.0080 | 21 | c.*16 others(32): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 1246 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195767751 | C | CCATCACT others(14): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03704.hp2 |
a0014a0107 | a0014c0086a0107c0093 | a0014c0086t0001a0107c0093t0002 | a0014c0086t0001g0127 a0107c0093t0002g0123 |
2 | 249 | 0.0080 | 21 | c.135 others(42): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195767751 | C | CCATCATT others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(94): Show |
a0001a0003a0004others(50): Show | a0001c0004a0001c0006a0001c0017others(80): Show | a0001c0004t0001a0001c0006t0001a0001c0017t0001others(80): Show | a0001c0004t0001g0093 a0001c0006t0001g0133 a0001c0017t0001g0104 others(93): Show |
97 | 249 | 0.3896 | 21 | c.135 others(42): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | |||||||
MUC5AC_chr11_1152953_1206138 | 1156001 | A | ACTCACTC others(14): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01169.hp2 others(7): Show |
a0002a0008a0011others(4): Show | a0002c0077a0002c0078a0008c0017others(6): Show | a0002c0077t0001a0002c0078t0001a0008c0017t0002others(6): Show | a0002c0077t0001g0043 a0002c0078t0001g0048 a0008c0017t0002g0007 others(6): Show |
10 | 292 | 0.0343 | 21 | c.-19 others(32): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 1951 | chr11 | TogoVar | |||||||
MUC5AC_chr11_1152953_1206138 | 1175837 | G | GCACTCAC others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(272): Show |
a0001a0002a0003others(68): Show | a0001c0001a0001c0004a0001c0011others(114): Show | a0001c0001t0001a0001c0004t0001a0001c0011t0001others(116): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(242): Show |
275 | 292 | 0.9418 | 21 | c.240 others(38): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUL1_chr1_20494448_20513151 | 20512877 | T | TGGGGGGG others(14): Show |
upstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 444 | 0.0023 | 21 | c.-48 others(32): Show |
MUL1 | ENSG00000090432.7 | transcript | ENST00000264198.5 | protein_coding | 4727 | chr1 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110676343 | C | CATATATT others(14): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01261.hp1 HG01978.hp2 others(13): Show |
a0001a0002a0006 | a0001c0001a0002c0004a0006c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0167 a0001c0001t0003g0136 a0001c0001t0006g0044 others(13): Show |
16 | 326 | 0.0491 | 21 | c.80- others(36): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110681008 | A | ATATATAA others(14): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01261.hp2 HG03017.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0003a0005c0005t0002 | a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0003g0002 others(1): Show |
5 | 326 | 0.0153 | 21 | c.80- others(36): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110755939 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0265 | 1 | 326 | 0.0031 | 21 | c.914 others(38): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MVB12B_chr9_126321829_126512040 | 126433296 | G | GGATACAC others(14): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0082 | 1 | 318 | 0.0031 | 21 | c.757 others(40): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MVB12B_chr9_126321829_126512040 | 126476051 | A | AGGAGCAC others(14): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 318 | 0.0031 | 21 | c.758 others(38): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MVD_chr16_88646940_88668091 | 88663680 | G | GGCCGTGG others(14): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(373): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(196): Show |
376 | 434 | 0.8664 | 21 | c.-60 others(30): Show |
MVD | ENSG00000167508.12 | transcript | ENST00000301012.8 | protein_coding | 590 | chr16 | TogoVar | |||||||
MVK_chr12_109568794_109603125 | 109600672 | C | CTGTGTGT others(14): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0139 | 1 | 382 | 0.0026 | 21 | c.*40 others(32): Show |
MVK | ENSG00000110921.14 | transcript | ENST00000228510.8 | protein_coding | 2548 | chr12 | TogoVar | |||||||
MXI1_chr10_110202605_110292365 | 110216665 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0205 | 1 | 372 | 0.0027 | 21 | c.274 others(38): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MXI1_chr10_110202605_110292365 | 110216665 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01934.hp2 HG02451.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0023a0001c0003t0002 | a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 others(12): Show |
15 | 372 | 0.0403 | 21 | c.274 others(38): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3316497 | T | TTAATAAT others(14): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01433.hp1 HG01884.hp2 others(4): Show |
a0001a0007a0017 | a0001c0001a0007c0006a0017c0041 | a0001c0001t0001a0007c0006t0001a0017c0041t0001 | a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0165 others(4): Show |
7 | 284 | 0.0247 | 21 | c.657 others(38): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 6/6 | chrX | TogoVar | |||||||
MXRA5_chrX_3303565_3351652 | 3345121 | G | GAAACTCC others(14): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0033 | a0033c0045 | a0033c0045t0001 | a0033c0045t0001g0144 | 1 | 284 | 0.0035 | 21 | c.-28 others(38): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 1/6 | chrX | TogoVar | |||||||
MXRA7_chr17_76674566_76715965 | 76706138 | A | ACCACGCT others(14): Show |
intron_variant | MODIFIER | HG00735.hp2 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 a0001c0001t0001g0204 |
2 | 416 | 0.0048 | 21 | c.342 others(38): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MXRA7_chr17_76674566_76715965 | 76706143 | A | ACTGCCGT others(14): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00733.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0195 others(10): Show |
19 | 416 | 0.0457 | 21 | c.342 others(38): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MXRA7_chr17_76674566_76715965 | 76706197 | G | GAGGCCCA others(14): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02258.hp2 others(4): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0001c0003t0006a0002c0002t0010 | a0001c0003t0002g0280 a0001c0003t0006g0281 a0001c0003t0006g0282 others(4): Show |
7 | 416 | 0.0168 | 21 | c.342 others(38): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MXRA7_chr17_76674566_76715965 | 76706212 | A | ATCACAAA others(14): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0042 |
2 | 416 | 0.0048 | 21 | c.342 others(38): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MXRA7_chr17_76674566_76715965 | 76706348 | C | CCCACGCT others(14): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01109.hp2 HG02040.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0164 a0001c0001t0003g0145 a0001c0001t0004g0023 others(26): Show |
32 | 416 | 0.0769 | 21 | c.342 others(38): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MXRA7_chr17_76674566_76715965 | 76706348 | C | CCCACGCT others(14): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 416 | 0.0024 | 21 | c.342 others(38): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MXRA7_chr17_76674566_76715965 | 76706353 | T | TCTGCCGT others(14): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02300.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0270 |
3 | 416 | 0.0072 | 21 | c.342 others(38): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MYADM_chr19_53862883_53881435 | 53878650 | A | AAAAAAAT others(14): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0060 | 1 | 378 | 0.0027 | 21 | c.*41 others(32): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2216 | chr19 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTCC others(14): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 HG02630.hp1 HG03831.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0004 | a0001c0001t0001g0249 a0001c0001t0001g0316 a0001c0004t0001g0166 others(2): Show |
5 | 360 | 0.0139 | 21 | c.-32 others(32): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTCC others(14): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 HG02135.hp2 NA18951.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0006a0001c0003t0004a0001c0004t0001 | a0001c0001t0006g0097 a0001c0003t0004g0149 a0001c0003t0004g0161 others(2): Show |
5 | 360 | 0.0139 | 21 | c.-32 others(32): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTCC others(14): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG04228.hp2 NA18992.hp2 |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0005t0002a0001c0006t0004 | a0001c0001t0001g0283 a0001c0005t0002g0169 a0001c0006t0004g0251 |
3 | 360 | 0.0083 | 21 | c.-32 others(32): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTTC others(14): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG02129.hp1 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0191 a0001c0001t0006g0121 a0001c0001t0006g0122 |
3 | 360 | 0.0083 | 21 | c.-32 others(32): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591846 | T | TCTCCTTC others(14): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG02451.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0110 a0001c0001t0001g0171 a0001c0001t0001g0237 others(5): Show |
8 | 360 | 0.0222 | 21 | c.-32 others(32): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3124 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101674862 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0170 | 1 | 360 | 0.0028 | 21 | c.281 others(38): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |