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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(197): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0189 | 1 | 173 | 0.0058 | 204 | c.-25 others(223): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(197): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0024 | a0001c0001t0002g0048 a0001c0001t0024g0053 |
2 | 174 | 0.0115 | 204 | c.-25 others(223): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(197): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0041a0001c0003t0017 | a0001c0001t0041g0084 a0001c0003t0017g0085 |
2 | 174 | 0.0115 | 204 | c.-25 others(223): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
KIF17_chr1_20659014_20723007 | 20712841 | G | GATATTAT others(197): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01255.hp2 HG02080.hp2 others(4): Show |
a0001a0002 | a0001c0005a0002c0003a0002c0010 | a0001c0005t0001a0001c0005t0002a0002c0003t0001others(1): Show | a0001c0005t0001g0128 a0001c0005t0002g0129 a0002c0003t0001g0043 others(4): Show |
7 | 248 | 0.0282 | 204 | c.480 others(219): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
KIF17_chr1_20659014_20723007 | 20712841 | G | GATATTAT others(197): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0172 | 1 | 242 | 0.0041 | 204 | c.480 others(219): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
KIF26A_chr14_104133587_104185894 | 104185779 | A | ATGGGGTG others(197): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0017 | a0001c0017t0007 | a0001c0017t0007g0151 | 1 | 271 | 0.0037 | 204 | c.*59 others(215): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 4886 | chr14 | TogoVar | |||||||
KIF26A_chr14_104133587_104185894 | 104185779 | A | ATGGGGTG others(197): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02622.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0017a0001c0021others(4): Show | a0001c0002t0007a0001c0017t0007a0001c0021t0007others(4): Show | a0001c0002t0007g0049 a0001c0002t0007g0050 a0001c0017t0007g0080 others(6): Show |
9 | 279 | 0.0323 | 204 | c.*59 others(215): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 4886 | chr14 | TogoVar | |||||||
KRTAP21-2_chr21_30741794_30752259 | 30742222 | C | CAGCCAGA others(197): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(91): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0002a0002c0005t0002 | a0002c0002t0002g0000 a0002c0005t0002g0000 |
94 | 361 | 0.2604 | 204 | c.*47 others(215): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 4571 | chr21 | TogoVar | |||||||
KRTAP21-2_chr21_30741794_30752259 | 30742222 | C | CAGCCAGA others(197): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG01256.hp2 HG01258.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 9 | 276 | 0.0326 | 204 | c.*47 others(215): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 4571 | chr21 | TogoVar | |||||||
KRTAP21-2_chr21_30741794_30752259 | 30742242 | G | GCCAGAGC others(197): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 378 | 0.0026 | 204 | c.*47 others(215): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 4551 | chr21 | TogoVar | |||||||
KRTAP21-2_chr21_30741794_30752259 | 30742244 | C | CAGAGCCA others(197): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 NA18966.hp2 NA19080.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 3 | 378 | 0.0079 | 204 | c.*47 others(215): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 4549 | chr21 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055120 | A | ATTAGCTC others(197): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG01109.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0059 others(16): Show |
19 | 230 | 0.0826 | 204 | c.193 others(223): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055122 | A | ATTAGCTC others(197): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01070.hp2 HG01071.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0058 a0001c0001t0001g0142 a0001c0001t0001g0145 others(12): Show |
15 | 233 | 0.0644 | 204 | c.193 others(223): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055124 | A | ATTAGCTC others(197): Show |
intron_variant | MODIFIER | HG03831.hp1 NA18612.hp1 NA19056.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0017a0001c0002t0001others(1): Show | a0001c0001t0004g0076 a0001c0001t0017g0034 a0001c0002t0001g0183 others(1): Show |
4 | 234 | 0.0171 | 204 | c.193 others(223): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055126 | A | ATTAGCTC others(197): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0081 | 1 | 234 | 0.0043 | 204 | c.193 others(223): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LHFPL3_chr7_104323603_104913561 | 104824184 | A | AATATATA others(197): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 65 | 0.0154 | 204 | c.683 others(223): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124610828 | T | TGCGGGTG others(197): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01123.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0018a0002c0002t0001 | a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0045 others(16): Show |
19 | 253 | 0.0751 | 204 | c.717 others(221): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LINGO2_chr9_27932617_29218601 | 28189533 | G | GAGGAAGG others(197): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01074.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0029a0001c0001t0030others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0047 others(3): Show |
6 | 41 | 0.1463 | 204 | c.-36 others(225): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 886545 | A | ATTCCCCA others(197): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0139 | 1 | 94 | 0.0106 | 204 | c.729 others(221): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 5/10 | chr16 | TogoVar | |||||||
LMLN_chr3_197955217_198048720 | 198004150 | T | TATCTATA others(197): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0008 | 1 | 256 | 0.0039 | 204 | c.131 others(223): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LMLN_chr3_197955217_198048720 | 198004666 | T | TATCTATA others(197): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0055 | 1 | 256 | 0.0039 | 204 | c.131 others(223): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LMLN_chr3_197955217_198048720 | 198004718 | T | TATCTATA others(197): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 256 | 0.0039 | 204 | c.131 others(223): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LOC102723971_chr9_135609183_135624893 | 135620041 | C | CCCCTTCT others(197): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0002 | 1 | 447 | 0.0022 | 204 | c.*10 others(215): Show |
LOC102723971 | ENSG00000236543.3 | transcript | ENST00000430816.3 | protein_coding | 149 | chr9 | TogoVar | |||||||
LOC122319696_chrX_149409877_149420506 | 149418487 | A | ATATATAT others(197): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 107 | 0.0280 | 204 | c.-30 others(215): Show |
LOC122319696 | ENSG00000287585.2 | transcript | ENST00000653668.2 | protein_coding | 2982 | chrX | TogoVar | |||||||
LRRC23_chr12_6899822_6919229 | 6909111 | T | TATATAAT others(197): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 NA19240.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0021 | 3 | 314 | 0.0096 | 204 | c.622 others(219): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
LRRC74A_chr14_76821408_76875304 | 76867164 | G | GGTGTGTG others(197): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0305 | 1 | 95 | 0.0105 | 204 | c.130 others(221): Show |
LRRC74A | ENSG00000100565.16 | transcript | ENST00000689127.1 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LRRK1_chr15_100914357_101083257 | 100941414 | G | GTGCCTGT others(197): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0007 | a0001c0007t0258 | a0001c0007t0258g0103 | 1 | 245 | 0.0041 | 204 | c.97+ others(221): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
LTBP2_chr14_74493183_74617237 | 74564089 | A | ATATATAT others(197): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0015 | a0002c0015t0007 | a0002c0015t0007g0117 | 1 | 268 | 0.0037 | 204 | c.831 others(221): Show |
LTBP2 | ENSG00000119681.12 | transcript | ENST00000261978.9 | protein_coding | 3/35 | chr14 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 25044079 | A | ATATATAT others(197): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0110 | 1 | 96 | 0.0104 | 204 | c.766 others(221): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 9/11 | chr11 | TogoVar | |||||||
LYAR_chr4_4262701_4295154 | 4263813 | A | ACTAACTT others(197): Show |
downstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 378 | 0.0026 | 204 | c.*40 others(215): Show |
LYAR | ENSG00000145220.14 | transcript | ENST00000343470.9 | protein_coding | 3887 | chr4 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1870475 | G | GCCTGCCA others(197): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0079 | 1 | 262 | 0.0038 | 204 | c.199 others(225): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | |||||||
MAEA_chr4_1284891_1345137 | 1298329 | T | TGCCGTCT others(197): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0284 | 1 | 263 | 0.0038 | 204 | c.69+ others(219): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAGEF1_chr3_184705364_184717064 | 184712991 | G | GCCTTCCT others(197): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01255.hp1 NA18994.hp1 others(2): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0000 | 5 | 364 | 0.0137 | 204 | c.-11 others(215): Show |
MAGEF1 | ENSG00000177383.5 | transcript | ENST00000317897.5 | protein_coding | 928 | chr3 | TogoVar | |||||||
MAGI3_chr1_113385515_113690923 | 113416469 | T | TTAATTTT others(197): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01070.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0018 others(35): Show |
38 | 112 | 0.3393 | 204 | c.316 others(223): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MBNL3_chrX_132364320_132494038 | 132396741 | T | TATTCATA others(197): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0002 | 1 | 171 | 0.0058 | 204 | c.343 others(221): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MBOAT7_chr19_54168415_54194580 | 54181993 | G | GGGAGGGA others(197): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 110 | 0.0091 | 204 | c.494 others(219): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
MDM2_chr12_68803177_68850544 | 68833280 | A | AATATATA others(197): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 238 | 0.0042 | 204 | c.685 others(221): Show |
MDM2 | ENSG00000135679.27 | transcript | ENST00000258149.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
METRNL_chr17_83074609_83100122 | 83090485 | A | ACCCCCGC others(197): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0295 | 1 | 259 | 0.0039 | 204 | c.557 others(221): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT4C_chr12_85950667_86261391 | 86110302 | A | ATATAGTC others(197): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0089 | 1 | 138 | 0.0072 | 204 | c.-56 others(223): Show |
MGAT4C | ENSG00000182050.14 | transcript | ENST00000611864.5 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
MGAT4C_chr12_85950667_86261391 | 86110302 | A | ATATAGTC others(197): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0081 | 1 | 138 | 0.0072 | 204 | c.-56 others(223): Show |
MGAT4C | ENSG00000182050.14 | transcript | ENST00000611864.5 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
MGAT4C_chr12_85950667_86261391 | 86110302 | A | ATATAGTC others(197): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02015.hp2 HG02135.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034a0001c0001t0050others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0034g0012 others(2): Show |
5 | 142 | 0.0352 | 204 | c.-56 others(223): Show |
MGAT4C | ENSG00000182050.14 | transcript | ENST00000611864.5 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43495482 | G | GTGGTGGT others(197): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01515.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0061 a0001c0002t0003g0183 |
2 | 247 | 0.0081 | 204 | c.633 others(221): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43495597 | T | TGGTGGTG others(197): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 243 | 0.0041 | 204 | c.633 others(221): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43500011 | T | TGGTGGTG others(197): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG01069.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0118 a0001c0001t0001g0139 a0001c0001t0001g0144 others(9): Show |
12 | 237 | 0.0506 | 204 | c.748 others(221): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43500173 | A | AGGTGGTG others(197): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0155 | 1 | 226 | 0.0044 | 204 | c.748 others(221): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43500182 | T | TGGTGATG others(197): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0176 | 1 | 238 | 0.0042 | 204 | c.748 others(221): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43500184 | A | ATGATGGT others(197): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0207 | 1 | 167 | 0.0060 | 204 | c.748 others(221): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MRGPRG_chr11_3212944_3223813 | 3216168 | T | TCTGAGCC others(197): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 290 | 0.0069 | 204 | c.*17 others(215): Show |
MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 1775 | chr11 | TogoVar | |||||||
MS4A4E_chr11_60195270_60248137 | 60206512 | T | TGTATATA others(197): Show |
intron_variant | MODIFIER | NA19009.hp2 NA19054.hp1 NA19066.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0014 a0002c0003t0001g0066 |
4 | 62 | 0.0645 | 204 | c.484 others(219): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
MS4A4E_chr11_60195270_60248137 | 60206512 | T | TGTATATA others(197): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0083 | 1 | 59 | 0.0169 | 204 | c.484 others(219): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar |