| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DGCR8_chr22_20075241_20116872 | 20075553 | C | CGAGACCA others(847): Show |
upstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0029 | 1 | 419 | 0.0024 | 854 | c.-51 others(865): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 4687 | chr22 | TogoVar | ||||||
| DGCR8_chr22_20075241_20116872 | 20075553 | C | CGAGACCA others(847): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 NA18998.hp1 NA19076.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0016 | a0001c0001t0008g0004a0001c0001t0016g0011a0001c0001t0016g0079 | 3 | 419 | 0.0072 | 854 | c.-51 others(865): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 4687 | chr22 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 320273 | G | GGACCGAA others(847): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0043 | a0043c0057 | a0043c0057t0001 | a0043c0057t0001g0182 | 1 | 256 | 0.0039 | 854 | c.827 others(871): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89634690 | T | TCCCTTCC others(847): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 250 | 0.0040 | 854 | c.105 others(871): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| FAM120B_chr6_170301758_170412067 | 170377401 | G | GTGCACAC others(847): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 | 1 | 289 | 0.0035 | 854 | c.228 others(875): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(847): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 289 | 0.0035 | 854 | c.228 others(875): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCTGGG others(847): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0009 | a0001c0009t0017 | a0001c0009t0017g0093 | 1 | 289 | 0.0035 | 854 | c.228 others(875): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCTGGG others(847): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0009 | a0001c0009t0018 | a0001c0009t0018g0092 | 1 | 289 | 0.0035 | 854 | c.228 others(875): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FAM240C_chr2_241888988_241905464 | 241896615 | G | GGGGGTGT others(847): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 37 | 0.0270 | 854 | c.161 others(869): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
| FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(847): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(60): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0009a0001c0001t0001g0083a0001c0001t0001g0102others(58): Show | 63 | 418 | 0.1507 | 854 | c.119 others(873): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
| FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(847): Show |
intron_variant | MODIFIER | HG03239.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0299a0001c0001t0002g0331 | 2 | 418 | 0.0048 | 854 | c.119 others(873): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
| FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(847): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 344 | 0.0029 | 854 | c.617 others(871): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
| GNAQ_chr9_77711097_78036811 | 77975783 | G | GCCTCAGC others(847): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0020a0001c0001t0036others(1): Show | a0001c0001t0016g0007a0001c0001t0016g0008a0001c0001t0016g0009others(3): Show | 6 | 282 | 0.0213 | 854 | c.137 others(873): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33322309 | A | ATATATGC others(847): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0238a0002c0002t0002g0239 | 2 | 323 | 0.0062 | 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 | 323 | 0.0031 | 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 | 323 | 0.0031 | 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 | 408 | 0.0025 | 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 |
a0002a0014 | a0002c0002a0014c0022 | a0002c0002t0001a0014c0022t0001 | a0002c0002t0001g0159a0014c0022t0001g0158 | 2 | 380 | 0.0053 | 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 | a0002c0002t0002g0174 | 1 | 380 | 0.0026 | 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 | a0002c0002t0002g0180a0002c0002t0002g0209 | 2 | 380 | 0.0053 | 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 | a0002c0002t0002g0146a0002c0002t0002g0154 | 2 | 380 | 0.0053 | 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 | a0001c0001t0000 | a0001c0001t0000g0005 | 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 | 422 | 0.0047 | 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 | 422 | 0.0024 | 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 | a0003c0003t0001g0001a0003c0003t0001g0002 | 9 | 422 | 0.0213 | 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 |
a0003a0005 | a0003c0003a0003c0006a0005c0007 | a0003c0003t0001a0003c0006t0001a0005c0007t0001 | a0003c0003t0001g0001a0003c0006t0001g0001a0005c0007t0001g0001 | 20 | 422 | 0.0474 | 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 | 422 | 0.0024 | 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 | 422 | 0.0047 | 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 | a0001c0007t0021 | a0001c0007t0021g0178 | 1 | 278 | 0.0036 | 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 | a0006c0006t0003g0117 | 1 | 286 | 0.0035 | 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 | 394 | 0.0025 | 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 | 394 | 0.0051 | 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 | a0001c0001t0003g0304 | 1 | 324 | 0.0031 | 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 | a0001c0018t0001g0271 | 1 | 324 | 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 | 456 | 0.0022 | 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 | 376 | 0.0027 | 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 | a0001c0001t0002g0025 | 2 | 376 | 0.0053 | 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 | 210 | 0.0048 | 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 | a0001c0001t0001g0029a0001c0001t0001g0125a0001c0001t0004g0046others(2): Show | 5 | 210 | 0.0238 | 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 |
a0001a0005 | a0001c0001a0001c0004a0005c0018 | a0001c0001t0019a0001c0001t0022a0001c0004t0007others(1): Show | a0001c0001t0019g0101a0001c0001t0022g0061a0001c0004t0007g0071others(1): Show | 4 | 210 | 0.0191 | 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 | a0001c0001t0001g0203a0001c0004t0055g0004 | 2 | 210 | 0.0095 | 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 | 210 | 0.0048 | 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 | 210 | 0.0048 | 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 | a0001c0001t0001g0190a0001c0002t0001g0153 | 2 | 210 | 0.0095 | 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 | 210 | 0.0048 | 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 | 286 | 0.0035 | 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 | a0001c0001t0002g0093 | 1 | 346 | 0.0029 | 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 | 67 | 0.0149 | 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 | 338 | 0.0030 | 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 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0001 | 1 | 160 | 0.0063 | 854 | c.389 others(875): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |