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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HERC6_chr4_88373852_88448097 | 88379742 | A | ATATATAA others(365): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0141 | 1 | 174 | 0.0058 | 372 | c.199 others(387): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | chr4 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399538 | C | CCACCACC others(365): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02809.hp1 HG02896.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0018 | a0001c0001t0002g0289 a0001c0001t0005g0008 a0001c0001t0005g0120 others(6): Show |
9 | 314 | 0.0287 | 372 | c.-25 others(389): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152671 | T | TCTCCTTC others(365): Show |
intron_variant | MODIFIER | NA18945.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 a0001c0001t0001g0267 |
2 | 274 | 0.0073 | 372 | c.804 others(389): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152683 | T | TCACCACT others(365): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0028 | 1 | 274 | 0.0037 | 372 | c.804 others(389): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322318 | A | ACATATAT others(365): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0176 | 1 | 323 | 0.0031 | 372 | c.-27 others(383): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2651 | chr21 | TogoVar | |||||||
IGLON5_chr19_51306644_51335891 | 51310779 | G | GCCTGGAC others(365): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 418 | 0.0024 | 372 | c.-10 others(383): Show |
IGLON5 | ENSG00000142549.10 | transcript | ENST00000270642.9 | protein_coding | 864 | chr19 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352768 | T | TATAATAT others(365): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0150 | 1 | 366 | 0.0027 | 372 | c.-36 others(383): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 3027 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352768 | T | TATAATAT others(365): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0064 | 1 | 348 | 0.0029 | 372 | c.*84 others(381): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 732 | chr2 | TogoVar | |||||||
INSIG2_chr2_118083471_118115997 | 118094233 | A | AGATGATG others(365): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0173 | 1 | 440 | 0.0023 | 372 | c.-13 others(391): Show |
INSIG2 | ENSG00000125629.16 | transcript | ENST00000245787.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INSIG2_chr2_118083471_118115997 | 118094233 | A | AGATGATG others(365): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0178 a0001c0001t0006g0202 |
2 | 440 | 0.0046 | 372 | c.-13 others(391): Show |
INSIG2 | ENSG00000125629.16 | transcript | ENST00000245787.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406228 | C | CGTCTTCC others(365): Show |
3_prime_UTR_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0221 | a0001c0001t0221g0175 | 1 | 276 | 0.0036 | 372 | c.*60 others(381): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 605 | chr2 | TogoVar | ||||||
JAG2_chr14_105135995_105173776 | 105162474 | C | CAAAGCCC others(365): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01891.hp2 others(10): Show |
a0001 | a0001c0001a0001c0011a0001c0054 | a0001c0001t0001a0001c0011t0001a0001c0054t0001 | a0001c0001t0001g0006 a0001c0001t0001g0242 a0001c0001t0001g0254 others(4): Show |
13 | 364 | 0.0357 | 372 | c.418 others(389): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132155008 | A | ATAATGGT others(365): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01167.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0002c0008others(1): Show | a0001c0001t0004a0001c0001t0038a0002c0004t0004others(2): Show | a0001c0001t0004g0127 a0001c0001t0038g0014 a0002c0004t0004g0038 others(6): Show |
9 | 158 | 0.0570 | 372 | c.222 others(391): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132155008 | A | ATAATGGT others(365): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0018 | a0003c0018t0003 | a0003c0018t0003g0015 | 1 | 158 | 0.0063 | 372 | c.222 others(391): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132155008 | A | ATAATGGT others(365): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02965.hp1 HG03098.hp2 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0013a0001c0022a0002c0010others(2): Show | a0001c0013t0024a0001c0022t0002a0002c0010t0002others(2): Show | a0001c0013t0024g0078 a0001c0022t0002g0062 a0001c0022t0002g0080 others(4): Show |
7 | 158 | 0.0443 | 372 | c.222 others(391): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132155008 | A | ATAATGGT others(365): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0048 | a0001c0048t0013 | a0001c0048t0013g0098 | 1 | 158 | 0.0063 | 372 | c.222 others(391): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132155008 | A | ATAATGGT others(365): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0004 | a0004c0011 | a0004c0011t0040 | a0004c0011t0040g0060 | 1 | 158 | 0.0063 | 372 | c.222 others(391): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514123 | T | TCTCCCTC others(365): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0018 | a0018c0017 | a0018c0017t0007 | a0018c0017t0007g0078 | 1 | 254 | 0.0039 | 372 | c.-84 others(389): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNK9_chr8_139612121_139708123 | 139687464 | A | ATATATGT others(365): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 322 | 0.0031 | 372 | c.283 others(391): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNK9_chr8_139612121_139708123 | 139687464 | A | ATATATGT others(365): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 322 | 0.0031 | 372 | c.283 others(391): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNK9_chr8_139612121_139708123 | 139687464 | A | ATATATGT others(365): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 322 | 0.0031 | 372 | c.283 others(391): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNK9_chr8_139612121_139708123 | 139687464 | A | ATATATGT others(365): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02074.hp1 NA18944.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0250 a0001c0001t0001g0260 a0001c0001t0001g0278 others(1): Show |
4 | 322 | 0.0124 | 372 | c.283 others(391): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNK9_chr8_139612121_139708123 | 139687464 | A | ATATATGT others(365): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 322 | 0.0031 | 372 | c.283 others(391): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758039 | T | TATATCCA others(365): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 232 | 0.0043 | 372 | c.-67 others(391): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758041 | T | TATATATC others(365): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 1 | 232 | 0.0043 | 372 | c.-67 others(391): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997488 | G | GTCGGGGG others(365): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0276 | 1 | 375 | 0.0027 | 372 | c.-19 others(383): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 182 | chr6 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(365): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(18): Show |
a0002a0009a0013 | a0002c0002a0009c0020a0013c0016 | a0002c0002t0001a0002c0002t0011a0002c0002t0014others(2): Show | a0002c0002t0001g0003 a0002c0002t0001g0021 a0002c0002t0001g0022 others(8): Show |
21 | 370 | 0.0568 | 372 | c.-27 others(383): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(365): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022 | 1 | 370 | 0.0027 | 372 | c.-27 others(383): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(365): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 370 | 0.0027 | 372 | c.-27 others(383): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(365): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 290 | 0.0035 | 372 | c.129 others(391): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364652 | A | ACTTACAC others(365): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0094 | 1 | 290 | 0.0035 | 372 | c.129 others(389): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC74A_chr14_76821408_76875304 | 76867100 | G | GGGGTGTG others(365): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0381 | 1 | 408 | 0.0025 | 372 | c.130 others(389): Show |
LRRC74A | ENSG00000100565.16 | transcript | ENST00000689127.1 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LRRC74A_chr14_76821408_76875304 | 76867100 | G | GGTGTGTG others(365): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01975.hp1 HG02132.hp1 others(3): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0001a0001c0005t0001 | a0001c0004t0001g0161 a0001c0004t0001g0165 a0001c0004t0001g0180 others(3): Show |
6 | 408 | 0.0147 | 372 | c.130 others(389): Show |
LRRC74A | ENSG00000100565.16 | transcript | ENST00000689127.1 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186781 | G | GGGAGGAA others(365): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 350 | 0.0029 | 372 | c.*24 others(383): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2208 | chr16 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 187190 | G | GGAGGAAC others(365): Show |
downstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 350 | 0.0029 | 372 | c.*20 others(383): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 1799 | chr16 | TogoVar | |||||||
MACF1_chr1_39199695_39492138 | 39234634 | G | GGGCGGGG others(365): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 246 | 0.0041 | 372 | c.171 others(389): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19477856 | G | GGGGGAGG others(365): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0006 | a0002c0006t0013 | a0002c0006t0013g0011 | 1 | 163 | 0.0061 | 372 | c.525 others(389): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132396705 | T | TATATAGA others(365): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0098 | 1 | 191 | 0.0052 | 372 | c.343 others(389): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132396705 | T | TATATATA others(365): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 191 | 0.0052 | 372 | c.343 others(389): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132396745 | T | TATTCATA others(365): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 191 | 0.0052 | 372 | c.343 others(389): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MBOAT7_chr19_54168415_54194580 | 54181843 | G | GAGGGAGG others(365): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 373 | 0.0027 | 372 | c.494 others(387): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113333800 | T | TGTATATA others(365): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0018 | a0001c0018t0007 | a0001c0018t0007g0105 | 1 | 160 | 0.0063 | 372 | c.627 others(389): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(365): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0079 | a0079c0082 | a0079c0082t0057 | a0079c0082t0057g0281 | 1 | 292 | 0.0034 | 372 | c.377 others(389): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(365): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0095 | a0095c0079 | a0095c0079t0024 | a0095c0079t0024g0187 | 1 | 292 | 0.0034 | 372 | c.377 others(389): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MLIP_chr6_54106443_54271280 | 54251553 | A | ATTATATA others(365): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0022 | a0022c0029 | a0022c0029t0002 | a0022c0029t0002g0120 | 1 | 248 | 0.0040 | 372 | c.292 others(391): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 12/13 | chr6 | TogoVar | |||||||
MLIP_chr6_54106443_54271280 | 54251553 | A | ATTATATA others(365): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0008 | a0008c0006 | a0008c0006t0002 | a0008c0006t0002g0098 | 1 | 248 | 0.0040 | 372 | c.292 others(391): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 12/13 | chr6 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80693360 | G | GATAAATA others(365): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0330 a0001c0001t0006g0331 a0001c0001t0008g0329 |
3 | 362 | 0.0083 | 372 | c.134 others(393): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH4_chr1_75791882_75918242 | 75906518 | T | TTGTATAC others(365): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0057 | 1 | 332 | 0.0030 | 372 | c.262 others(391): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | chr1 | TogoVar | |||||||
MTERF3_chr8_96234402_96266610 | 96250681 | A | AAGAAGAA others(365): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 294 | 0.0034 | 372 | c.677 others(387): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTTP_chr4_99569824_99628997 | 99588815 | A | ACATATAT others(365): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02132.hp1 NA19066.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0006 a0003c0003t0001g0010 |
4 | 364 | 0.0110 | 372 | c.394 others(387): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |