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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNAPC4_chr9_136370571_136405170 | 136403322 | G | GGGGGGAG others(40): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(114): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0004a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0007a0001c0004t0001others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(76): Show |
117 | 355 | 0.3296 | 47 | c.-31 others(58): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3153 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403322 | G | GGGGGGAG others(40): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 239 | 0.0042 | 47 | c.-32 others(58): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3153 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403393 | A | AGGGAGCA others(40): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 322 | 0.0031 | 47 | c.-33 others(58): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3224 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403464 | G | GGGGGGAG others(40): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0107 | 1 | 376 | 0.0027 | 47 | c.-33 others(58): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3295 | chr9 | TogoVar | |||||||
SNED1_chr2_240993618_241100568 | 241036053 | T | TGCGTCAC others(40): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0002 | 1 | 92 | 0.0109 | 47 | c.806 others(62): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNRNP200_chr2_96269338_96310546 | 96273263 | G | GGCTCAAA others(40): Show |
downstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 350 | 0.0029 | 47 | c.*17 others(58): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 1074 | chr2 | TogoVar | |||||||
SNRNP27_chr2_69888956_69910236 | 69889101 | C | CAATGGTC others(40): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0021 | 1 | 438 | 0.0023 | 47 | c.-48 others(58): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 4854 | chr2 | TogoVar | |||||||
SNTG1_chr8_49906407_50801692 | 49938603 | T | TTTTCTTT others(40): Show |
intron_variant | MODIFIER | HG02109.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0027 | a0001c0001t0005g0018 a0001c0001t0027g0070 |
2 | 35 | 0.0571 | 47 | c.-10 others(68): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50570252 | T | TTTTATTT others(40): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03041.hp2 |
a0002 | a0002c0003 | a0002c0003t0018a0002c0003t0043 | a0002c0003t0018g0045 a0002c0003t0043g0050 |
2 | 106 | 0.0189 | 47 | c.810 others(66): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50701618 | C | CTTCTTCT others(40): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0079 | 1 | 85 | 0.0118 | 47 | c.103 others(66): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 15/18 | chr8 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1111789 | G | GATCGTGT others(40): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0172 | 1 | 188 | 0.0053 | 47 | c.325 others(66): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1113151 | G | GATCTTTT others(40): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(127): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0002c0003others(27): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(34): Show | a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0026 others(127): Show |
130 | 142 | 0.9155 | 47 | c.325 others(66): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1113151 | G | GATCTTTT others(40): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0068 | 1 | 13 | 0.0769 | 47 | c.325 others(66): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1113151 | G | GATCTTTT others(40): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0094 | 1 | 13 | 0.0769 | 47 | c.325 others(66): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1113613 | G | GTGTGTAC others(40): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0128 | 1 | 188 | 0.0053 | 47 | c.325 others(66): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX18_chr5_54512759_54551586 | 54513747 | T | TTATATAA others(40): Show |
upstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0079 | 1 | 232 | 0.0043 | 47 | c.-42 others(58): Show |
SNX18 | ENSG00000178996.14 | transcript | ENST00000381410.5 | protein_coding | 4011 | chr5 | TogoVar | |||||||
SNX25_chr4_185204598_185368966 | 185342621 | T | TACAAGGG others(40): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02145.hp1 HG02257.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(12): Show |
15 | 274 | 0.0547 | 47 | c.218 others(64): Show |
SNX25 | ENSG00000109762.17 | transcript | ENST00000652585.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 191 | 0.0052 | 47 | c.949 others(64): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0262 | 1 | 191 | 0.0052 | 47 | c.949 others(64): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0276 | 1 | 191 | 0.0052 | 47 | c.949 others(64): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAT others(40): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0002 | 1 | 191 | 0.0052 | 47 | c.949 others(64): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7373478 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0040 | 1 | 31 | 0.0323 | 47 | c.481 others(66): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104696353 | T | TATACACA others(40): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0078 | 1 | 28 | 0.0357 | 47 | c.627 others(66): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23603445 | A | AATATATA others(40): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0136 | 1 | 88 | 0.0114 | 47 | c.116 others(64): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
SPATA13_chr13_24155720_24312069 | 24309306 | T | TATATATA others(40): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0007 | a0002c0007t0118 | a0002c0007t0118g0283 | 1 | 350 | 0.0029 | 47 | c.*65 others(58): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2238 | chr13 | TogoVar | |||||||
SPESP1_chr15_68925525_68951811 | 68932248 | A | AGAAGACT others(40): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 400 | 0.0025 | 47 | c.64+ others(62): Show |
SPESP1 | ENSG00000258484.4 | transcript | ENST00000310673.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89536469 | G | GGGTGAGG others(40): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02965.hp2 |
a0001 | a0001c0001a0001c0013a0001c0019 | a0001c0001t0001a0001c0013t0003a0001c0019t0003 | a0001c0001t0001g0221 a0001c0013t0003g0341 a0001c0019t0003g0220 |
3 | 164 | 0.0183 | 47 | c.132 others(66): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89536520 | C | CAGGTGAG others(40): Show |
intron_variant | MODIFIER | HG01074.hp1 NA19009.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0144 a0001c0006t0001g0058 |
2 | 167 | 0.0120 | 47 | c.132 others(66): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG00733.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0350 |
2 | 31 | 0.0645 | 47 | c.180 others(64): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0008 | a0008c0020 | a0008c0020t0001 | a0008c0020t0001g0220 | 1 | 30 | 0.0333 | 47 | c.180 others(64): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPOCK3_chr4_166728384_167239494 | 166969513 | A | ATTAAATG others(40): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02683.hp1 HG02895.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0110 a0001c0001t0003g0133 a0001c0002t0001g0080 |
3 | 101 | 0.0297 | 47 | c.350 others(66): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 4/10 | chr4 | TogoVar | |||||||
SPON2_chr4_1161932_1177583 | 1165267 | G | GGGGGCCC others(40): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG01975.hp2 HG02027.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0003t0002 | a0001c0001t0001g0001 a0002c0002t0001g0003 a0002c0003t0002g0005 |
4 | 317 | 0.0126 | 47 | c.*22 others(58): Show |
SPON2 | ENSG00000159674.12 | transcript | ENST00000290902.10 | protein_coding | 1664 | chr4 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2347348 | C | CTCCTTCT others(40): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 410 | 0.0024 | 47 | c.135 others(66): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPRED2_chr2_65305851_65437599 | 65315125 | A | ACCCAGGG others(40): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02055.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0003t0003 | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 others(6): Show |
9 | 274 | 0.0328 | 47 | c.589 others(63): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158670652 | A | AGGGAGGG others(40): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0222 | 1 | 368 | 0.0027 | 47 | c.159 others(64): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 12/51 | chr1 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54522646 | A | AAGAAAGA others(40): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0003 | a0003c0027 | a0003c0027t0003 | a0003c0027t0003g0075 | 1 | 336 | 0.0030 | 47 | c.-47 others(64): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SRBD1_chr2_45383680_45616267 | 45587038 | T | TTTTTAAA others(40): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18951.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080 a0002c0002t0001g0081 |
2 | 270 | 0.0074 | 47 | c.649 others(64): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 4/20 | chr2 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 144883183 | G | GCCGCCGC others(40): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0044 a0001c0001t0016g0038 |
2 | 26 | 0.0769 | 47 | c.*89 others(58): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4104 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 144883183 | G | GCCGCGGC others(40): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0033 others(3): Show |
6 | 30 | 0.2000 | 47 | c.*89 others(58): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4104 | chr1 | TogoVar | |||||||
SRP54_chr14_34977992_35034567 | 34988578 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261 | 1 | 97 | 0.0103 | 47 | c.-34 others(64): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76062741 | A | AATATATA others(40): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 a0001c0001t0002g0061 |
2 | 341 | 0.0059 | 47 | c.562 others(64): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105377633 | T | TGCTGCAG others(40): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 280 | 0.0036 | 47 | c.71+ others(64): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54369699 | A | AGACGCTC others(40): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0064 others(34): Show |
37 | 270 | 0.1370 | 47 | c.276 others(66): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03710.hp1 |
a0002a0003 | a0002c0002a0003c0007 | a0002c0002t0003a0003c0007t0002 | a0002c0002t0003g0089 a0003c0007t0002g0035 |
2 | 191 | 0.0105 | 47 | c.138 others(64): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0115 | 1 | 190 | 0.0053 | 47 | c.138 others(64): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG01167.hp2 NA19070.hp1 |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0003c0011t0002 | a0001c0001t0001g0130 a0003c0011t0002g0023 |
2 | 191 | 0.0105 | 47 | c.138 others(64): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ST7_chr7_116948501_117235176 | 117027463 | A | AAAAGTAA others(40): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 14 | 0.0714 | 47 | c.152 others(66): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ST8SIA5_chr18_46662821_46762053 | 46719682 | T | TTTTCTTT others(40): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0152 a0001c0001t0032g0153 |
2 | 48 | 0.0417 | 47 | c.132 others(66): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
ST8SIA5_chr18_46662821_46762053 | 46725972 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 199 | 0.0050 | 47 | c.132 others(66): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
ST8SIA5_chr18_46662821_46762053 | 46725980 | T | TATATATA others(40): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 292 | 0.0034 | 47 | c.132 others(66): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 1/6 | chr18 | TogoVar |