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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IFNAR1_chr21_33319970_33364864 | 33323138 | T | TATATATG others(648): Show |
upstream_gene_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 323 | 0.0031 | 655 | c.-19 others(666): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1831 | chr21 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7153357 | A | ACACCACA others(648): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02257.hp2 others(7): Show |
a0001 | a0001c0006a0001c0012a0001c0025others(4): Show | a0001c0006t0065a0001c0012t0077a0001c0012t0105others(7): Show | a0001c0006t0065g0011 a0001c0012t0077g0088 a0001c0012t0105g0183 others(7): Show |
10 | 300 | 0.0333 | 655 | c.203 others(672): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 9/21 | chr19 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(648): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 312 | 0.0032 | 655 | c.-41 others(670): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120078 | A | AGGAAACA others(648): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0232 | 1 | 368 | 0.0027 | 655 | c.353 others(672): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104824186 | T | TATATATA others(648): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 | 1 | 86 | 0.0116 | 655 | c.683 others(674): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544549 | A | ATGGTGAG others(648): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0017 | a0017c0021 | a0017c0021t0002 | a0017c0021t0002g0050 | 1 | 286 | 0.0035 | 655 | c.153 others(674): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(648): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0211 | 1 | 324 | 0.0031 | 655 | c.140 others(672): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841585 | C | CGGGCGAG others(648): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 242 | 0.0041 | 655 | c.361 others(674): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(648): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 266 | 0.0038 | 655 | c.-34 others(670): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101311897 | C | CCACCCCA others(648): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 336 | 0.0030 | 655 | c.269 others(674): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PIGN_chr18_62036164_62192056 | 62039893 | T | TCATGTTT others(648): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0056 | 1 | 342 | 0.0029 | 655 | c.*59 others(666): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 1270 | chr18 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6561410 | C | CTCCTAGT others(648): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0007 | a0002c0007t0018 | a0002c0007t0018g0055 | 1 | 218 | 0.0046 | 655 | c.-50 others(666): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4856 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6561410 | C | CTCCTAGT others(648): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(69): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(50): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0020 others(69): Show |
72 | 218 | 0.3303 | 655 | c.-50 others(666): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4856 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6561410 | C | CTCCTAGT others(648): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 | a0005 | a0005c0023 | a0005c0023t0003 | a0005c0023t0003g0058 | 1 | 218 | 0.0046 | 655 | c.-50 others(666): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4856 | chr17 | TogoVar | |||||||
PPP2R2A_chr8_26286508_26377680 | 26310217 | G | GTTGCGGT others(648): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0268 | 1 | 340 | 0.0029 | 655 | c.82+ others(672): Show |
PPP2R2A | ENSG00000221914.11 | transcript | ENST00000380737.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PPP2R2A_chr8_26286508_26377680 | 26310231 | A | AGATCGCG others(648): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0003 a0001c0001t0007g0060 a0001c0001t0007g0061 others(4): Show |
9 | 340 | 0.0265 | 655 | c.82+ others(672): Show |
PPP2R2A | ENSG00000221914.11 | transcript | ENST00000380737.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PPP2R2A_chr8_26286508_26377680 | 26310231 | A | AGATCGCG others(648): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 340 | 0.0029 | 655 | c.82+ others(672): Show |
PPP2R2A | ENSG00000221914.11 | transcript | ENST00000380737.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PPP2R2A_chr8_26286508_26377680 | 26310231 | A | AGATCGCG others(648): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00735.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(2): Show | a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0264 others(15): Show |
18 | 340 | 0.0529 | 655 | c.82+ others(672): Show |
PPP2R2A | ENSG00000221914.11 | transcript | ENST00000380737.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PPP2R2A_chr8_26286508_26377680 | 26310231 | A | AGATCGCG others(648): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01981.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 others(2): Show |
5 | 340 | 0.0147 | 655 | c.82+ others(672): Show |
PPP2R2A | ENSG00000221914.11 | transcript | ENST00000380737.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PPP2R2A_chr8_26286508_26377680 | 26310231 | A | AGATCGCG others(648): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(98): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(91): Show |
101 | 340 | 0.2971 | 655 | c.82+ others(672): Show |
PPP2R2A | ENSG00000221914.11 | transcript | ENST00000380737.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PPP2R2A_chr8_26286508_26377680 | 26310231 | A | AGATCGCG others(648): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 340 | 0.0029 | 655 | c.82+ others(672): Show |
PPP2R2A | ENSG00000221914.11 | transcript | ENST00000380737.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PPP2R2A_chr8_26286508_26377680 | 26310231 | A | AGATCGCG others(648): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(137): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 others(126): Show |
140 | 340 | 0.4118 | 655 | c.82+ others(672): Show |
PPP2R2A | ENSG00000221914.11 | transcript | ENST00000380737.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PPP2R2A_chr8_26286508_26377680 | 26310231 | A | AGATCGCG others(648): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0079 a0001c0001t0004g0080 |
2 | 340 | 0.0059 | 655 | c.82+ others(672): Show |
PPP2R2A | ENSG00000221914.11 | transcript | ENST00000380737.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PPP2R2A_chr8_26286508_26377680 | 26310231 | A | AGATCGCG others(648): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 340 | 0.0029 | 655 | c.82+ others(672): Show |
PPP2R2A | ENSG00000221914.11 | transcript | ENST00000380737.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PPP2R2A_chr8_26286508_26377680 | 26310231 | A | AGATCGCG others(648): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01515.hp1 HG02129.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0014 | a0001c0001t0010g0205 a0001c0001t0010g0206 a0001c0001t0010g0207 others(3): Show |
6 | 340 | 0.0177 | 655 | c.82+ others(672): Show |
PPP2R2A | ENSG00000221914.11 | transcript | ENST00000380737.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PPP2R2A_chr8_26286508_26377680 | 26310231 | A | AGATCGCG others(648): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0074 | 1 | 340 | 0.0029 | 655 | c.82+ others(672): Show |
PPP2R2A | ENSG00000221914.11 | transcript | ENST00000380737.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PPP2R2A_chr8_26286508_26377680 | 26310231 | A | AGATCGCG others(648): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(44): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0018 others(42): Show |
47 | 340 | 0.1382 | 655 | c.82+ others(672): Show |
PPP2R2A | ENSG00000221914.11 | transcript | ENST00000380737.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PPP2R2A_chr8_26286508_26377680 | 26310231 | A | AGATCGCG others(648): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0298 | 1 | 340 | 0.0029 | 655 | c.82+ others(672): Show |
PPP2R2A | ENSG00000221914.11 | transcript | ENST00000380737.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3351524 | G | GTCTCTCC others(648): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0035 | 1 | 210 | 0.0048 | 655 | c.439 others(674): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTPN4_chr2_119754922_119989899 | 119843900 | G | GGACGGGG others(648): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0106 | 1 | 252 | 0.0040 | 655 | c.139 others(674): 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(648): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 252 | 0.0040 | 655 | c.139 others(674): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(648): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 1 | 67 | 0.0149 | 655 | c.159 others(672): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(648): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 67 | 0.0149 | 655 | c.159 others(672): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242763 | A | ACCCTTCC others(648): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0004 | a0001c0004t0026 | a0001c0004t0026g0014 | 1 | 133 | 0.0075 | 655 | c.613 others(672): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242763 | A | ACCCTTCC others(648): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0055 | 1 | 133 | 0.0075 | 655 | c.613 others(672): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242763 | A | ACCCTTCC others(648): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0105 | 1 | 133 | 0.0075 | 655 | c.613 others(672): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242763 | A | ACCTTCCT others(648): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0033 | 1 | 133 | 0.0075 | 655 | c.613 others(672): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1284177 | T | TTGGGTGG others(648): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0012 | a0012c0063 | a0012c0063t0001 | a0012c0063t0001g0011 | 1 | 290 | 0.0035 | 655 | c.464 others(668): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3977040 | C | CCACGCAG others(648): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0009 | a0002c0009t0056 | a0002c0009t0056g0044 | 1 | 116 | 0.0086 | 655 | c.199 others(674): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3977201 | C | CCACGCAG others(648): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0063 | a0001c0063t0053 | a0001c0063t0053g0042 | 1 | 116 | 0.0086 | 655 | c.199 others(674): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1098278 | C | CTAACCCT others(648): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0023 | 1 | 118 | 0.0085 | 655 | c.125 others(672): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(648): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 352 | 0.0057 | 655 | c.*12 others(666): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(648): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 655 | c.*12 others(666): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(648): Show |
downstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 352 | 0.0028 | 655 | c.*12 others(666): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(648): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 655 | c.*12 others(666): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(648): Show |
downstream_gene_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 655 | c.*12 others(666): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827089 | C | CATATATT others(648): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 302 | 0.0033 | 655 | c.12+ others(670): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(648): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0132 | 1 | 302 | 0.0033 | 655 | c.12+ others(670): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(648): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0133 | 1 | 302 | 0.0033 | 655 | c.12+ others(670): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SYTL3_chr6_158645054_158769871 | 158701175 | G | GGTGAGCT others(648): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 292 | 0.0034 | 655 | c.395 others(672): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |