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 | 33322309 | A | ATATATGC others(847): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0238 a0002c0002t0002g0239 |
2 | 306 | 0.0065 | 854 | c.-27 others(865): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2660 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322309 | A | ATATATGC others(847): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0009 | 1 | 305 | 0.0033 | 854 | c.-27 others(865): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2660 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(847): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0011 | 1 | 62 | 0.0161 | 854 | c.-21 others(865): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284532 | T | TAATAATA others(847): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 311 | 0.0032 | 854 | c.-30 others(865): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2911 | chr19 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87738867 | T | TCCATCCA others(847): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03540.hp1 |
a0002a0022 | a0002c0002a0022c0022 | a0002c0002t0001a0022c0022t0001 | a0002c0002t0001g0160 a0022c0022t0001g0159 |
2 | 339 | 0.0059 | 854 | c.507 others(871): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87738913 | C | CCCACACA others(847): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0167 | 1 | 320 | 0.0031 | 854 | c.507 others(871): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87738913 | C | CCCACACA others(847): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01978.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0176 a0002c0002t0002g0210 |
2 | 321 | 0.0062 | 854 | c.507 others(871): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87738913 | C | CCCACACA others(847): Show |
intron_variant | MODIFIER | NA18967.hp1 NA18970.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0147 a0002c0002t0002g0155 |
2 | 321 | 0.0062 | 854 | c.507 others(871): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89398192 | A | ACTGTGAA others(847): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 366 | 0.0027 | 854 | c.9+2 others(869): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(847): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 NA19064.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 2 | 349 | 0.0057 | 854 | c.-29 others(865): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(847): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 1 | 348 | 0.0029 | 854 | c.-29 others(865): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(847): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01109.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 a0003c0003t0001g0002 |
9 | 356 | 0.0253 | 854 | c.-29 others(865): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(847): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01169.hp1 others(17): Show |
a0003 | a0003c0003a0003c0006 | a0003c0003t0001a0003c0006t0001 | a0003c0003t0001g0001 a0003c0006t0001g0001 |
20 | 367 | 0.0545 | 854 | c.-29 others(865): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(847): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 1 | 348 | 0.0029 | 854 | c.-29 others(865): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(847): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 2 | 349 | 0.0057 | 854 | c.-29 others(865): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(847): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0007 | a0001c0007t0018 | a0001c0007t0018g0176 | 1 | 8 | 0.1250 | 854 | c.115 others(871): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237545067 | T | TGGTGAGT others(847): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0120 | 1 | 269 | 0.0037 | 854 | c.154 others(873): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(847): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 246 | 0.0041 | 854 | c.-8+ others(867): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(847): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 2 | 7 | 0.2857 | 854 | c.-8+ others(867): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(847): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0301 | 1 | 139 | 0.0072 | 854 | c.141 others(871): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535832 | G | GGGGGGAG others(847): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0250 | 1 | 320 | 0.0031 | 854 | c.140 others(871): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(847): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 135 | 0.0074 | 854 | c.*31 others(865): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370388 | C | CCCCTACC others(847): Show |
downstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 226 | 0.0044 | 854 | c.*15 others(865): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 399 | chr16 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(847): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 2 | 6 | 0.3333 | 854 | c.*15 others(865): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(847): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0075 | 1 | 70 | 0.0143 | 854 | c.438 others(873): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(847): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001a0001c0008a0001c0017 | a0001c0001t0001a0001c0001t0004a0001c0008t0040others(1): Show | a0001c0001t0001g0029 a0001c0001t0001g0125 a0001c0001t0004g0046 others(2): Show |
5 | 74 | 0.0676 | 854 | c.438 others(873): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(847): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02145.hp2 HG03225.hp2 others(1): Show |
a0001a0007 | a0001c0001a0001c0004a0007c0018 | a0001c0001t0019a0001c0001t0022a0001c0004t0007others(1): Show | a0001c0001t0019g0101 a0001c0001t0022g0061 a0001c0004t0007g0071 others(1): Show |
4 | 73 | 0.0548 | 854 | c.438 others(873): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(847): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0055 | a0001c0001t0001g0203 a0001c0004t0055g0004 |
2 | 71 | 0.0282 | 854 | c.438 others(873): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(847): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0186 | 1 | 70 | 0.0143 | 854 | c.438 others(873): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(847): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0002 | 1 | 70 | 0.0143 | 854 | c.438 others(873): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(847): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02056.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0190 a0001c0002t0001g0153 |
2 | 71 | 0.0282 | 854 | c.438 others(873): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(847): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0100 | 1 | 70 | 0.0143 | 854 | c.438 others(873): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2123926 | G | GTAGTTAG others(847): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0126 | 1 | 251 | 0.0040 | 854 | c.335 others(873): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTDSS2_chr11_445279_496399 | 475247 | G | GTACGGAC others(847): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 220 | 0.0045 | 854 | c.367 others(871): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114099939 | G | GCCCCCCC others(847): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 | 1 | 61 | 0.0164 | 854 | c.56- others(871): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(847): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 199 | 0.0050 | 854 | c.-26 others(873): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77322918 | A | ATATATTA others(847): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0001 | 1 | 133 | 0.0075 | 854 | c.389 others(875): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 217421 | C | CCTTTCTT others(847): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0055 | 1 | 92 | 0.0109 | 854 | c.728 others(871): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 217432 | G | GCTAAAAT others(847): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0004 | a0004c0013 | a0004c0013t0003 | a0004c0013t0003g0036 | 1 | 36 | 0.0278 | 854 | c.728 others(871): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 217455 | C | CAGGACCC others(847): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 132 | 0.0076 | 854 | c.728 others(871): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 314894 | T | TCCACCTC others(847): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0100 | 1 | 123 | 0.0081 | 854 | c.351 others(871): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158229108 | G | GTGTATAT others(847): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 177 | 0.0056 | 854 | c.494 others(873): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(847): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0108 |
2 | 8 | 0.2500 | 854 | c.*17 others(873): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(847): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0137 a0001c0001t0013g0121 |
2 | 8 | 0.2500 | 854 | c.*17 others(873): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(847): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0113 | 1 | 7 | 0.1429 | 854 | c.*17 others(873): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(847): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 7 | 0.1429 | 854 | c.*17 others(873): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(847): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02300.hp2 HG04184.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0142 others(3): Show |
6 | 12 | 0.5000 | 854 | c.*17 others(873): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(847): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 7 | 0.1429 | 854 | c.*17 others(873): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(847): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01074.hp1 HG01106.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0012 a0001c0001t0005g0120 a0001c0001t0007g0011 others(3): Show |
7 | 13 | 0.5385 | 854 | c.*17 others(873): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(847): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02129.hp1 HG02155.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0118 a0001c0001t0005g0115 a0001c0001t0005g0116 others(1): Show |
4 | 10 | 0.4000 | 854 | c.*17 others(873): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar |