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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GMDS_chr6_1618806_2250605 | 1683957 | GTTTGCCA others(93): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(47): Show |
50 | 164 | 0.3049 | -100 | c.987 others(119): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132817256 | CACCTCCA others(93): Show |
C | intron_variant | MODIFIER | NA19005.hp1 | a0020 | a0020c0036 | a0020c0036t0010 | a0020c0036t0010g0087 | 1 | 306 | 0.0033 | -100 | c.134 others(115): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132817775 | CGCCCTCC others(93): Show |
C | intron_variant | MODIFIER | NA19005.hp1 | a0020 | a0020c0036 | a0020c0036t0010 | a0020c0036t0010g0087 | 1 | 301 | 0.0033 | -100 | c.134 others(116): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | |||||||
GPC6_chr13_93221807_94413020 | 93231325 | ATATACGT others(93): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02647.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0037 others(5): Show |
8 | 76 | 0.1053 | -100 | c.160 others(117): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPR20_chr8_141351470_141372286 | 141364719 | AGCCAGTT others(93): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0080 | 1 | 400 | 0.0025 | -100 | c.-25 others(117): Show |
GPR20 | ENSG00000204882.4 | transcript | ENST00000377741.4 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
GSTM4_chr1_109651099_109666700 | 109654116 | AGAAAGAA others(93): Show |
A | upstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 228 | 0.0044 | -100 | c.-22 others(111): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1982 | chr1 | TogoVar | |||||||
GYG2_chrX_2823930_2887818 | 2845453 | ATATTTAT others(93): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0305 | 1 | 311 | 0.0032 | -100 | c.149 others(117): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18732872 | CACACACG others(93): Show |
C | intron_variant | MODIFIER | HG03041.hp1 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0018 | a0001c0002t0012g0049 a0001c0002t0018g0021 |
2 | 153 | 0.0131 | -100 | c.190 others(119): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDGFL2_chr19_4467297_4507207 | 4472732 | GGGCTGCA others(93): Show |
G | intron_variant | MODIFIER | NA18977.hp1 | a0011 | a0011c0012 | a0011c0012t0002 | a0011c0012t0002g0283 | 1 | 356 | 0.0028 | -100 | c.72+ others(113): Show |
HDGFL2 | ENSG00000167674.15 | transcript | ENST00000616600.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HELZ2_chr20_63553086_63579239 | 63553558 | CGCGGTGG others(93): Show |
C | downstream_gene_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG02055.hp1 others(37): Show |
a0001a0003a0004others(14): Show | a0001c0001a0003c0025a0004c0004others(19): Show | a0001c0001t0004a0003c0025t0001a0003c0025t0002others(32): Show | a0001c0001t0004g0134 a0001c0001t0004g0136 a0003c0025t0001g0145 others(33): Show |
40 | 388 | 0.1031 | -100 | c.*55 others(111): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 4527 | chr20 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210533248 | TGGCTCGT others(93): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(206): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0076 others(206): Show |
209 | 266 | 0.7857 | -100 | c.104 others(121): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HLA-DRA_chr6_32434887_32450046 | 32449161 | AAGGAAGG others(93): Show |
A | downstream_gene_variant | MODIFIER | HG02027.hp1 HG02071.hp1 HG02071.hp2 others(36): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0005 a0002c0002t0004g0018 a0002c0002t0004g0034 others(1): Show |
39 | 434 | 0.0899 | -100 | c.*45 others(111): Show |
HLA-DRA | ENSG00000204287.14 | transcript | ENST00000395388.7 | protein_coding | 4116 | chr6 | TogoVar | |||||||
HMOX1_chr22_35376096_35399207 | 35389319 | CTTCTTTC others(93): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02896.hp2 HG02897.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0057 a0001c0001t0002g0005 others(3): Show |
8 | 352 | 0.0227 | -100 | c.637 others(115): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | chr22 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1366655 | GCCGGGTG others(93): Show |
G | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0039 | 1 | 112 | 0.0089 | -100 | c.874 others(117): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149368936 | ATATATAT others(93): Show |
A | intron_variant | MODIFIER | HG03704.hp1 HG03927.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0043 a0001c0002t0002g0174 |
2 | 247 | 0.0081 | -100 | c.139 others(121): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 13/13 | chr4 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 177134 | GACCCCGT others(93): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(71): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0004others(13): Show | a0001c0002t0002a0001c0002t0040a0001c0002t0041others(17): Show | a0001c0002t0002g0001 a0001c0002t0002g0008 a0001c0002t0002g0035 others(70): Show |
74 | 280 | 0.2643 | -100 | c.*21 others(111): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 14/14 | 2132 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 177165 | ACTTACCA others(93): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19011.hp2 | a0024 | a0024c0053 | a0024c0053t0014 | a0024c0053t0014g0275 | 1 | 255 | 0.0039 | -100 | c.*21 others(111): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 14/14 | 2182 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ITPR1_chr3_4488348_4852506 | 4619592 | CCTCCCCT others(93): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp1 others(39): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0004 a0001c0001t0002g0048 a0001c0001t0003g0100 others(39): Show |
42 | 132 | 0.3182 | -100 | c.164 others(117): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4619612 | CCTCCCCT others(93): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG00673.hp2 others(28): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(26): Show | a0001c0001t0001g0040 a0001c0001t0002g0005 a0001c0002t0001g0041 others(28): Show |
31 | 164 | 0.1890 | -100 | c.164 others(117): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4619666 | CTCTGCTC others(93): Show |
C | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 163 | 0.0061 | -100 | c.164 others(117): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4619672 | TCTCCCCT others(93): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG01257.hp1 HG01257.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0005a0001c0002t0001a0001c0002t0002others(8): Show | a0001c0001t0005g0072 a0001c0002t0001g0162 a0001c0002t0002g0069 others(8): Show |
11 | 149 | 0.0738 | -100 | c.164 others(117): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6036930 | CGAGGTAG others(93): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01167.hp1 HG02109.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(22): Show |
25 | 228 | 0.1096 | -100 | c.217 others(117): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 18/20 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21757163 | GAAAGAAG others(93): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0064 a0001c0001t0002g0021 others(4): Show |
7 | 76 | 0.0921 | -100 | c.61+ others(119): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 72941407 | CCTCCCTC others(93): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0064 | 1 | 80 | 0.0125 | -100 | c.399 others(119): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 45041105 | TGGCTGGC others(93): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01884.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(7): Show |
10 | 196 | 0.0510 | -100 | c.654 others(117): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KIF4A_chrX_70285104_70425886 | 70373548 | ATATATAT others(93): Show |
A | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0028 | 1 | 256 | 0.0039 | -100 | c.167 others(117): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KIF4A_chrX_70285104_70425886 | 70373594 | ATATATAT others(93): Show |
A | intron_variant | MODIFIER | HG00408.hp2 NA18948.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0025 a0001c0003t0001g0038 |
2 | 257 | 0.0078 | -100 | c.167 others(117): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
LAT2_chr7_74205006_74234834 | 74214545 | TATATATA others(93): Show |
T | intron_variant | MODIFIER | HG03239.hp2 HG03710.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0153 |
3 | 286 | 0.0105 | -100 | c.-21 others(117): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LCN15_chr9_136754634_136769518 | 136769418 | CCCCCCCA others(93): Show |
C | upstream_gene_variant | MODIFIER | HG03239.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0052 |
2 | 352 | 0.0057 | -100 | c.-50 others(111): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4901 | chr9 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507303 | TGTGGAGG others(93): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 254 | 0.0039 | -100 | c.624 others(117): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LIPG_chr18_49557057_49604185 | 49579021 | GGAGAGGG others(93): Show |
G | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 380 | 0.0026 | -100 | c.794 others(117): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 949564 | TGACAGAG others(93): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0005a0001c0006others(8): Show | a0001c0004t0001a0001c0004t0004a0001c0005t0001others(10): Show | a0001c0004t0001g0078 a0001c0004t0004g0030 a0001c0005t0001g0109 others(25): Show |
28 | 288 | 0.0972 | -100 | c.503 others(117): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
LMOD1_chr1_201891456_201951548 | 201924399 | AGGAAGCA others(93): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02809.hp2 HG03516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(2): Show |
5 | 398 | 0.0126 | -100 | c.261 others(119): Show |
LMOD1 | ENSG00000163431.14 | transcript | ENST00000367288.5 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11493979 | GGGGGCGG others(93): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01069.hp1 others(74): Show |
a0006a0009a0016others(68): Show | a0006c0005a0006c0221a0009c0247others(69): Show | a0006c0005t0003a0006c0221t0003a0009c0247t0002others(69): Show | a0006c0005t0003g0086 a0006c0005t0003g0188 a0006c0221t0003g0179 others(74): Show |
77 | 307 | 0.2508 | -100 | c.143 others(117): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 11/66 | chr16 | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11494021 | GGGCGGGG others(93): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0166 | a0166c0100 | a0166c0100t0008 | a0166c0100t0008g0029 | 1 | 308 | 0.0032 | -100 | c.143 others(117): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 11/66 | chr16 | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11499081 | AAGAGGGG others(93): Show |
A | intron_variant | MODIFIER | HG03688.hp2 | a0178 | a0178c0257 | a0178c0257t0003 | a0178c0257t0003g0181 | 1 | 308 | 0.0032 | -100 | c.124 others(119): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 10/66 | chr16 | TogoVar | |||||||
LPAR3_chr1_84806602_84898206 | 84829020 | CATAGTTT others(93): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG03130.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0066a0001c0001t0067a0001c0001t0092 | a0001c0001t0066g0129 a0001c0001t0067g0051 a0001c0001t0092g0222 |
3 | 380 | 0.0079 | -100 | c.737 others(119): Show |
LPAR3 | ENSG00000171517.6 | transcript | ENST00000370611.4 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1483728 | TTAACATC others(93): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01192.hp2 HG01257.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0005a0001c0001t0006a0001c0003t0014others(4): Show | a0001c0001t0005g0166 a0001c0001t0005g0314 a0001c0001t0006g0136 others(10): Show |
14 | 376 | 0.0372 | -100 | c.668 others(115): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 5/13 | chr5 | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1483742 | GAGCTGGA others(93): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0139 | 1 | 213 | 0.0047 | -100 | c.668 others(120): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 5/13 | chr5 | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1483742 | GAGCTGGA others(93): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(93): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0021others(26): Show | a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0036 others(89): Show |
96 | 308 | 0.3117 | -100 | c.668 others(115): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 5/13 | chr5 | TogoVar | |||||||
MAN1A1_chr6_119172205_119354761 | 119289433 | TAAAAATA others(93): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02132.hp1 HG02135.hp2 others(10): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0164 a0001c0001t0001g0333 a0001c0001t0001g0335 others(10): Show |
13 | 348 | 0.0374 | -100 | c.897 others(117): Show |
MAN1A1 | ENSG00000111885.7 | transcript | ENST00000368468.4 | protein_coding | 5/12 | chr6 | TogoVar | |||||||
MAPK8IP3_chr16_1701195_1775351 | 1736897 | TGTGACCG others(93): Show |
T | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0220 | 1 | 328 | 0.0030 | -100 | c.603 others(117): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MAPK9_chr5_180228143_180297083 | 180296755 | ACACACAC others(93): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02735.hp1 HG03471.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0020others(2): Show | a0001c0001t0001g0163 a0001c0001t0001g0205 a0001c0001t0001g0207 others(5): Show |
8 | 370 | 0.0216 | -100 | c.-50 others(111): Show |
MAPK9 | ENSG00000050748.18 | transcript | ENST00000452135.7 | protein_coding | 4673 | chr5 | TogoVar | |||||||
MB21D2_chr3_192791815_192922856 | 192921651 | GTTTCCCA others(93): Show |
G | upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 296 | 0.0034 | -100 | c.-39 others(111): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 3796 | chr3 | TogoVar | |||||||
MBD3L4_chr19_7032749_7045179 | 7035328 | TATATTAT others(93): Show |
T | downstream_gene_variant | MODIFIER | HG01081.hp2 HG03490.hp2 NA18973.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 262 | 0.0153 | -100 | c.*24 others(111): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 2420 | chr19 | TogoVar | |||||||
MBTPS1_chr16_84048763_84121942 | 84078283 | GGACCAGC others(93): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0231 | 1 | 383 | 0.0026 | -100 | c.144 others(119): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 11/22 | chr16 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169472480 | AAGGAAAG others(93): Show |
A | intron_variant | MODIFIER | HG02257.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 a0001c0001t0004g0013 |
2 | 160 | 0.0125 | -100 | c.38- others(117): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169472570 | GAGGAGAG others(93): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0013a0001c0008t0010 | a0001c0001t0013g0031 a0001c0008t0010g0144 |
2 | 160 | 0.0125 | -100 | c.38- others(117): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151368604 | TATTTTAT others(93): Show |
T | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0089 | 1 | 246 | 0.0041 | -100 | c.355 others(117): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED13_chr17_61937605_62070278 | 62021284 | ACCTCCCG others(93): Show |
A | intron_variant | MODIFIER | HG02523.hp2 NA19088.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 a0001c0002t0001g0321 |
2 | 324 | 0.0062 | -100 | c.128 others(119): Show |
MED13 | ENSG00000108510.10 | transcript | ENST00000397786.7 | protein_coding | 8/29 | chr17 | TogoVar |