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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP9B_chr18_79064394_79383283 | 79327515 | G | GTTAGCGT others(647): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG03471.hp2 |
a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0277 a0001c0010t0004g0295 a0001c0010t0004g0297 |
3 | 298 | 0.0101 | 654 | c.177 others(673): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
BSND_chr1_54993933_55022172 | 55003060 | G | GAGATGCT others(647): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02630.hp1 HG02647.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0063a0001c0001t0071a0001c0001t0148others(6): Show | a0001c0001t0063g0043 a0001c0001t0071g0027 a0001c0001t0148g0108 others(6): Show |
11 | 448 | 0.0246 | 654 | c.178 others(671): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(647): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 292 | 0.0034 | 654 | c.*21 others(669): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 410809 | A | ATCTGTCC others(647): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0051 | 1 | 322 | 0.0031 | 654 | c.-18 others(665): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1663 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(647): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0005 | a0005c0008 | a0005c0008t0064 | a0005c0008t0064g0078 | 1 | 376 | 0.0027 | 654 | c.63+ others(667): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12401066 | T | TTATATAT others(647): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0018 | 1 | 214 | 0.0047 | 654 | c.92+ others(671): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12401066 | T | TTATATAT others(647): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0009 | 1 | 214 | 0.0047 | 654 | c.92+ others(671): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81704622 | T | TCTCCTCC others(647): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01070.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0106 a0001c0001t0003g0107 |
2 | 268 | 0.0075 | 654 | c.209 others(671): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81704622 | T | TCTCCTCC others(647): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 268 | 0.0037 | 654 | c.209 others(671): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500919 | T | TGTGTTGG others(647): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0013 | a0013c0022 | a0013c0022t0001 | a0013c0022t0001g0279 | 1 | 292 | 0.0034 | 654 | c.268 others(673): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481668 | A | AGTTCTGT others(647): Show |
intron_variant | MODIFIER | HG01192.hp1 HG06807.hp1 |
a0003 | a0003c0025 | a0003c0025t0001 | a0003c0025t0001g0032 a0003c0025t0001g0034 |
2 | 372 | 0.0054 | 654 | c.275 others(671): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400571 | A | ACCTCCAC others(647): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0007 | a0007c0108 | a0007c0108t0012 | a0007c0108t0012g0229 | 1 | 256 | 0.0039 | 654 | c.323 others(673): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400809 | T | TCACCACC others(647): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0095 | a0002c0095t0001 | a0002c0095t0001g0002 | 1 | 256 | 0.0039 | 654 | c.323 others(673): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43730259 | A | AAAGGATG others(647): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02615.hp2 others(4): Show |
a0001a0019a0020 | a0001c0001a0019c0032a0020c0025 | a0001c0001t0002a0019c0032t0002a0020c0025t0002 | a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 others(4): Show |
7 | 290 | 0.0241 | 654 | c.757 others(671): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 8/31 | chr22 | TogoVar | |||||||
EFNA2_chr19_1280873_1306431 | 1282324 | G | GGGGAAGA others(647): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 294 | 0.0034 | 654 | c.-38 others(665): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3548 | chr19 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218331 | A | ACCCCAAC others(647): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0004 | 1 | 106 | 0.0094 | 654 | c.*28 others(665): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1162 | chr8 | TogoVar | |||||||
GPR35_chr2_240620480_240638159 | 240625887 | G | GGGTTCTC others(647): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 400 | 0.0025 | 654 | c.-5+ others(667): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRM3_chr7_86638909_86869879 | 86655539 | C | CAAAAATT others(647): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 216 | 0.0046 | 654 | c.-14 others(675): Show |
GRM3 | ENSG00000198822.11 | transcript | ENST00000361669.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 316000 | G | GACACACA others(647): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02735.hp2 NA18941.hp1 others(1): Show |
a0004a0005a0006others(1): Show | a0004c0006a0005c0019a0006c0009others(1): Show | a0004c0006t0001a0005c0019t0001a0006c0009t0001others(1): Show | a0004c0006t0001g0020 a0005c0019t0001g0022 a0006c0009t0001g0016 others(1): Show |
4 | 155 | 0.0258 | 654 | c.488 others(669): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316000 | G | GACACACA others(647): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0024 | 1 | 155 | 0.0065 | 654 | c.488 others(669): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173125 | C | CCTCTCTC others(647): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0149 | 1 | 158 | 0.0063 | 654 | c.*11 others(675): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(647): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0079 | 1 | 370 | 0.0027 | 654 | c.-27 others(665): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRTAP21-2_chr21_30741794_30752259 | 30742428 | G | GCCATATC others(647): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 380 | 0.0026 | 654 | c.*45 others(665): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 4365 | chr21 | TogoVar | |||||||
KRTAP21-2_chr21_30741794_30752259 | 30742428 | G | GCCATATC others(647): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 380 | 0.0026 | 654 | c.*45 others(665): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 4365 | chr21 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATTTAT others(647): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 260 | 0.0039 | 654 | c.125 others(671): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MBD3L3_chr19_7051207_7063676 | 7061804 | A | AATATATA others(647): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 288 | 0.0035 | 654 | c.-32 others(665): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151439555 | A | AGTGAGCC others(647): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 280 | 0.0036 | 654 | c.*67 others(665): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 2903 | chr3 | TogoVar | |||||||
METRNL_chr17_83074609_83100122 | 83090485 | A | ACCCCCGC others(647): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0126 | 1 | 399 | 0.0025 | 654 | c.557 others(671): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43500145 | G | GTGGGGGT others(647): Show |
intron_variant | MODIFIER | NA18951.hp2 NA19000.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0007 | a0001c0001t0007g0185 a0001c0002t0007g0083 |
2 | 250 | 0.0080 | 654 | c.748 others(671): 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(647): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03130.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0034 a0001c0006t0005g0035 a0001c0006t0005g0036 others(1): Show |
4 | 250 | 0.0160 | 654 | c.748 others(671): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(647): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 140 | 0.0071 | 654 | c.114 others(673): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(647): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG02523.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0043 others(3): Show |
6 | 140 | 0.0429 | 654 | c.114 others(673): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(647): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 140 | 0.0071 | 654 | c.114 others(673): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189580 | T | TTTTATAT others(647): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0049 |
3 | 330 | 0.0091 | 654 | c.-5+ others(669): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
NOL4L_chr20_32438059_32590333 | 32563187 | G | GGGAGGGT others(647): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 196 | 0.0051 | 654 | c.321 others(673): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 1/10 | chr20 | TogoVar | |||||||
NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(647): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 NA19063.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0223 a0001c0005t0001g0224 a0001c0005t0001g0227 |
3 | 244 | 0.0123 | 654 | c.342 others(673): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(647): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0244 | 1 | 326 | 0.0031 | 654 | c.433 others(671): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841586 | C | CCGCGAGC others(647): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18973.hp2 NA18980.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0122 a0001c0001t0001g0124 others(1): Show |
4 | 242 | 0.0165 | 654 | c.361 others(673): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54332312 | A | AATATAAT others(647): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 102 | 0.0098 | 654 | c.595 others(671): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 6/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54332312 | A | AATATAAT others(647): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 94 | 0.0106 | 654 | c.595 others(671): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 6/32 | chr10 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6561410 | C | CTCCTAGT others(647): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0062 | 1 | 218 | 0.0046 | 654 | c.-50 others(665): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4856 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6561410 | C | CTCCTAGT others(647): Show |
upstream_gene_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0007 | a0002c0007t0088 | a0002c0007t0088g0073 | 1 | 218 | 0.0046 | 654 | c.-50 others(665): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4856 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6561410 | C | CTCCTAGT others(647): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0070 | a0001c0002t0070g0018 | 1 | 218 | 0.0046 | 654 | c.-50 others(665): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4856 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6561410 | C | CTCCTAGT others(647): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 218 | 0.0046 | 654 | c.-50 others(665): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4856 | chr17 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(647): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0014 | a0014c0067 | a0014c0067t0022 | a0014c0067t0022g0187 | 1 | 322 | 0.0031 | 654 | c.*48 others(665): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(647): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0004 | a0004c0007 | a0004c0007t0029 | a0004c0007t0029g0312 | 1 | 322 | 0.0031 | 654 | c.*48 others(665): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3181333 | A | AGCAGTCT others(647): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01106.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0050a0002c0003t0006 | a0001c0002t0050g0017 a0002c0003t0006g0066 |
2 | 210 | 0.0095 | 654 | c.38- others(669): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTPN4_chr2_119754922_119989899 | 119843900 | G | GGACGGGG others(647): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 252 | 0.0040 | 654 | c.139 others(673): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPN4_chr2_119754922_119989899 | 119843900 | G | GGACGGGG others(647): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0120 | 1 | 252 | 0.0040 | 654 | c.139 others(673): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPN4_chr2_119754922_119989899 | 119843900 | G | GGACGGGG others(647): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 252 | 0.0040 | 654 | c.139 others(673): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |