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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHCBP1L_chr1_182894865_182958166 | 182952192 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG01981.hp2 others(7): Show |
a0001a0004a0010 | a0001c0001a0004c0004a0010c0012 | a0001c0001t0001a0004c0004t0001a0010c0012t0001 | a0001c0001t0001g0138a0001c0001t0001g0140a0001c0001t0001g0153others(7): Show | 10 | 302 | 0.0331 | -9 | c.405 others(24): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
SHFL_chr19_10081317_10098243 | 10088953 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01975.hp1 HG03654.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 5 | 444 | 0.0113 | -9 | c.196 others(24): Show |
SHFL | ENSG00000130813.18 | transcript | ENST00000253110.16 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SHISA6_chr17_11236213_11569063 | 11237575 | GGAAGAAG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01071.hp1 HG03471.hp2 HG03492.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0044 | a0001c0001t0001g0005a0001c0001t0001g0033a0001c0001t0001g0051others(2): Show | 5 | 192 | 0.0260 | -9 | c.-38 others(20): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3637 | chr17 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11240631 | CCCGCCGC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02818.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0009a0001c0001t0013others(4): Show | a0001c0001t0008g0124a0001c0001t0008g0125a0001c0001t0008g0126others(6): Show | 9 | 192 | 0.0469 | -9 | c.-79 others(18): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 581 | chr17 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11323669 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG02040.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0163a0001c0001t0003g0176a0001c0001t0004g0054others(8): Show | 11 | 192 | 0.0573 | -9 | c.800 others(28): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SHISA7_chr19_55423740_55448300 | 55434648 | ATGGTGTG others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(169): Show |
a0000a0001a0002others(1): Show | a0000c0002a0001c0001a0001c0005others(4): Show | a0000c0002t0001a0000c0002t0007a0001c0001t0001others(14): Show | a0000c0002t0001g0064a0000c0002t0001g0070a0000c0002t0001g0089others(81): Show | 172 | 372 | 0.4624 | -9 | c.977 others(24): Show |
SHISA7 | ENSG00000187902.13 | transcript | ENST00000376325.10 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
SHISA7_chr19_55423740_55448300 | 55434887 | ATGTGGTG others(2): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01192.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162a0001c0001t0002g0163a0001c0001t0002g0164 | 3 | 372 | 0.0081 | -9 | c.977 others(26): Show |
SHISA7 | ENSG00000187902.13 | transcript | ENST00000376325.10 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
SHISA7_chr19_55423740_55448300 | 55435093 | TGTGTGTA others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG03195.hp2 HG03927.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012 | a0001c0001t0008g0116a0001c0001t0008g0117a0001c0001t0008g0118others(2): Show | 7 | 372 | 0.0188 | -9 | c.977 others(26): Show |
SHISA7 | ENSG00000187902.13 | transcript | ENST00000376325.10 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
SHISA7_chr19_55423740_55448300 | 55435104 | TGTGTGTG others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(167): Show |
a0000a0001a0002others(1): Show | a0000c0002a0001c0001a0001c0005others(4): Show | a0000c0002t0001a0000c0002t0007a0001c0001t0001others(14): Show | a0000c0002t0001g0064a0000c0002t0001g0070a0000c0002t0001g0089others(79): Show | 170 | 372 | 0.4570 | -9 | c.977 others(26): Show |
SHISA7 | ENSG00000187902.13 | transcript | ENST00000376325.10 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
SHISA7_chr19_55423740_55448300 | 55448145 | ACACACAC others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(68): Show |
a0000a0001a0002 | a0000c0002a0001c0001a0001c0003others(1): Show | a0000c0002t0007a0001c0001t0001a0001c0001t0003others(9): Show | a0000c0002t0007g0171a0001c0001t0001g0001a0001c0001t0001g0004others(32): Show | 71 | 372 | 0.1909 | -9 | c.-52 others(20): Show |
SHISA7 | ENSG00000187902.13 | transcript | ENST00000376325.10 | protein_coding | 4846 | chr19 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12968189 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG02630.hp2 HG02738.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0029others(2): Show | a0001c0001t0002g0003a0001c0001t0003g0099a0001c0001t0029g0001others(2): Show | 5 | 214 | 0.0234 | -9 | c.691 others(28): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SHISA9_chr16_12896598_13245416 | 13238815 | TTTATTAT others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02738.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0073a0001c0001t0084 | a0001c0001t0073g0109a0001c0001t0084g0151 | 2 | 214 | 0.0094 | -9 | c.*34 others(20): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 5/5 | 3435 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
SHISAL1_chr22_44238665_44317951 | 44253425 | ATGTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02015.hp1 HG02109.hp1 HG02717.hp2 others(8): Show |
a0001 | a0001c0022a0001c0058a0001c0068others(7): Show | a0001c0022t0030a0001c0058t0001a0001c0068t0001others(7): Show | a0001c0022t0030g0117a0001c0022t0030g0245a0001c0058t0001g0116others(8): Show | 11 | 380 | 0.0290 | -9 | c.600 others(26): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | ||||||
SHKBP1_chr19_40571873_40596397 | 40595905 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00597.hp1 others(77): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0002g0022a0001c0002t0001g0003a0001c0002t0001g0008others(49): Show | 80 | 392 | 0.2041 | -9 | c.*46 others(20): Show |
SHKBP1 | ENSG00000160410.15 | transcript | ENST00000291842.10 | protein_coding | 4509 | chr19 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5791250 | CAAATAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(196): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0014others(196): Show | 199 | 328 | 0.6067 | -9 | c.178 others(28): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SHLD1_chr20_5745401_5869395 | 5829101 | CCTGGGCT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(124): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0052a0001c0001t0001g0057others(124): Show | 127 | 328 | 0.3872 | -9 | c.179 others(28): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5850112 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01433.hp1 HG01516.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(4): Show | a0001c0001t0001g0021a0001c0001t0001g0175a0001c0001t0001g0296others(10): Show | 13 | 328 | 0.0396 | -9 | c.179 others(28): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SHLD3_chr5_65620027_65635928 | 65624708 | CTCTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01168.hp1 HG01261.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0003a0001c0001t0003g0007a0001c0001t0003g0034others(3): Show | 13 | 406 | 0.0320 | -9 | c.-51 others(18): Show |
SHLD3 | ENSG00000253251.3 | transcript | ENST00000510585.3 | protein_coding | 318 | chr5 | TogoVar | ||||||
SHOC2_chr10_110914604_111018665 | 110998683 | AAGTGGTG others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015a0001c0001t0003g0124a0001c0001t0003g0125others(5): Show | 9 | 386 | 0.0233 | -9 | c.842 others(26): Show |
SHOC2 | ENSG00000108061.13 | transcript | ENST00000369452.9 | protein_coding | 3/8 | chr10 | TogoVar | ||||||
SHOX_chrX_625791_656584 | 636505 | TATACATA others(2): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0192 | a0001c0001t0192g0073 | 1 | 220 | 0.0046 | -9 | c.486 others(26): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHOX_chrX_625791_656584 | 645388 | GTATTTTT others(2): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02723.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0192a0001c0001t0194 | a0001c0001t0192g0073a0001c0001t0194g0205 | 2 | 220 | 0.0091 | -9 | c.*75 others(18): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 5/5 | 754 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
SHOX_chrX_625791_656584 | 655592 | CTCTCTCT others(2): Show |
C | downstream_gene_variant | MODIFIER | NA19076.hp1 | a0002 | a0002c0005 | a0002c0005t0186 | a0002c0005t0186g0092 | 1 | 220 | 0.0046 | -9 | c.*10 others(22): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4009 | chrX | TogoVar | ||||||
SHPK_chr17_3603240_3641250 | 3624257 | TGAAGAAA others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00642.hp2 others(15): Show |
a0001a0002a0008 | a0001c0001a0001c0015a0002c0002others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(3): Show | a0001c0001t0004g0205a0001c0001t0004g0214a0001c0001t0004g0215others(15): Show | 18 | 382 | 0.0471 | -9 | c.311 others(22): Show |
SHPK | ENSG00000197417.9 | transcript | ENST00000225519.5 | protein_coding | 2/6 | chr17 | TogoVar | ||||||
SHQ1_chr3_72744277_72853445 | 72748329 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00558.hp1 others(32): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(1): Show | a0001c0001t0001g0054a0002c0002t0001g0113a0002c0002t0001g0114others(32): Show | 35 | 222 | 0.1577 | -9 | c.*19 others(20): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 947 | chr3 | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9816580 | CCTGCTGC others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01884.hp2 others(20): Show |
a0001a0002a0003others(12): Show | a0001c0003a0002c0002a0002c0005others(15): Show | a0001c0003t0001a0002c0002t0002a0002c0005t0002others(18): Show | a0001c0003t0001g0111a0001c0003t0001g0252a0002c0002t0002g0245others(20): Show | 23 | 256 | 0.0898 | -9 | c.165 others(28): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHROOM2_chrX_9781429_9954443 | 9822985 | ATTCTTCT others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG06807.hp1 others(1): Show |
a0003a0004a0017 | a0003c0004a0004c0015a0004c0023others(1): Show | a0003c0004t0004a0004c0015t0012a0004c0023t0002others(1): Show | a0003c0004t0004g0192a0004c0015t0012g0173a0004c0023t0002g0014others(1): Show | 4 | 256 | 0.0156 | -9 | c.165 others(28): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHROOM2_chrX_9781429_9954443 | 9823014 | TCTCCTTC others(2): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG03486.hp1 |
a0002 | a0002c0005a0002c0035 | a0002c0005t0002a0002c0035t0006 | a0002c0005t0002g0237a0002c0035t0006g0013 | 2 | 256 | 0.0078 | -9 | c.165 others(28): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHROOM2_chrX_9781429_9954443 | 9823026 | TCTCCTCC others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00609.hp1 others(39): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0003a0001c0012others(22): Show | a0001c0001t0001a0001c0001t0022a0001c0001t0023others(28): Show | a0001c0001t0001g0017a0001c0001t0001g0072a0001c0001t0001g0076others(39): Show | 42 | 256 | 0.1641 | -9 | c.165 others(28): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHROOM2_chrX_9781429_9954443 | 9865554 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01106.hp1 | a0011 | a0011c0020 | a0011c0020t0004 | a0011c0020t0004g0235 | 1 | 256 | 0.0039 | -9 | c.166 others(26): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHROOM2_chrX_9781429_9954443 | 9927356 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG02109.hp1 others(10): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0005a0002c0010others(8): Show | a0001c0001t0001a0002c0005t0003a0002c0010t0003others(9): Show | a0001c0001t0001g0203a0002c0005t0003g0127a0002c0010t0003g0227others(10): Show | 13 | 256 | 0.0508 | -9 | c.289 others(28): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHROOM2_chrX_9781429_9954443 | 9950802 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG03209.hp1 |
a0002a0015a0021 | a0002c0025a0015c0079a0021c0077 | a0002c0025t0008a0015c0079t0003a0021c0077t0002 | a0002c0025t0008g0116a0015c0079t0003g0174a0021c0077t0002g0232 | 3 | 256 | 0.0117 | -9 | c.*38 others(20): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1360 | chrX | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76444484 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG02071.hp1 HG02809.hp2 others(3): Show |
a0001a0003a0006others(2): Show | a0001c0001a0003c0003a0006c0023others(2): Show | a0001c0001t0002a0003c0003t0001a0006c0023t0001others(2): Show | a0001c0001t0002g0181a0003c0003t0001g0177a0003c0003t0001g0178others(3): Show | 6 | 218 | 0.0275 | -9 | c.168 others(26): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SHROOM3_chr4_76430229_76788253 | 76544407 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02976.hp1 HG03098.hp1 HG03209.hp1 others(5): Show |
a0001a0011a0012others(2): Show | a0001c0001a0001c0035a0011c0012others(3): Show | a0001c0001t0002a0001c0001t0020a0001c0035t0002others(4): Show | a0001c0001t0002g0185a0001c0001t0020g0067a0001c0035t0002g0032others(5): Show | 8 | 218 | 0.0367 | -9 | c.169 others(28): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SHROOM3_chr4_76430229_76788253 | 76573381 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0015a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0014others(9): Show | a0001c0001t0002g0001a0001c0001t0002g0038a0001c0001t0002g0140others(14): Show | 17 | 218 | 0.0780 | -9 | c.323 others(28): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SHROOM3_chr4_76430229_76788253 | 76746781 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG03471.hp2 HG03540.hp2 NA18522.hp1 |
a0001a0013a0025 | a0001c0035a0013c0037a0025c0041 | a0001c0035t0002a0013c0037t0017a0025c0041t0013 | a0001c0035t0002g0032a0013c0037t0017g0176a0025c0041t0013g0097 | 3 | 218 | 0.0138 | -9 | c.375 others(28): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SHROOM3_chr4_76430229_76788253 | 76786665 | CCCATCAG others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG03453.hp1 HG03516.hp1 |
a0001a0009 | a0001c0036a0009c0011 | a0001c0036t0025a0009c0011t0013a0009c0011t0034 | a0001c0036t0025g0184a0009c0011t0013g0031a0009c0011t0034g0144 | 3 | 218 | 0.0138 | -9 | c.*74 others(20): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 3413 | chr4 | TogoVar | ||||||
SHROOM4_chrX_50581796_50819194 | 50590331 | CCGCCTCC others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0050 | 1 | 175 | 0.0057 | -9 | c.*63 others(20): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 9/9 | 6355 | chrX | TogoVar | |||||
SHROOM4_chrX_50581796_50819194 | 50591685 | CTTTCTTT others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG06807.hp2 | a0005 | a0005c0005 | a0005c0005t0037 | a0005c0005t0037g0008 | 1 | 175 | 0.0057 | -9 | c.*50 others(20): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 9/9 | 5001 | chrX | TogoVar | |||||
SHROOM4_chrX_50581796_50819194 | 50795042 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(122): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0014a0001c0018others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0028others(122): Show | 125 | 175 | 0.7143 | -9 | c.117 others(28): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | ||||||
SHROOM4_chrX_50581796_50819194 | 50795092 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG03579.hp1 |
a0006 | a0006c0006 | a0006c0006t0005 | a0006c0006t0005g0103a0006c0006t0005g0140a0006c0006t0005g0141 | 3 | 175 | 0.0171 | -9 | c.117 others(28): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | ||||||
SHROOM4_chrX_50581796_50819194 | 50795137 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0006 | 1 | 175 | 0.0057 | -9 | c.117 others(28): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | ||||||
SHTN1_chr10_116876477_117010187 | 116963035 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01496.hp1 HG01928.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0094a0001c0001t0002g0252a0001c0001t0003g0187others(7): Show | 10 | 292 | 0.0343 | -9 | c.173 others(26): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 3/16 | chr10 | TogoVar | ||||||
SIAH1_chr16_48355531_48390413 | 48359093 | TTCTTCTG others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01071.hp1 HG01952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0134a0001c0001t0003g0022 | 2 | 256 | 0.0078 | -9 | c.*24 others(20): Show |
SIAH1 | ENSG00000196470.12 | transcript | ENST00000394725.3 | protein_coding | 1437 | chr16 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 407271 | TGCGGGGT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(222): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(220): Show | 225 | 242 | 0.9298 | -9 | c.626 others(24): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 6/9 | chr11 | TogoVar | ||||||
SIGLEC7_chr19_51137301_51158526 | 51157637 | TTACTTCC others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0050a0001c0002t0001g0022a0001c0002t0001g0056 | 4 | 404 | 0.0099 | -9 | c.*43 others(20): Show |
SIGLEC7 | ENSG00000168995.13 | transcript | ENST00000317643.10 | protein_coding | 4112 | chr19 | TogoVar | ||||||
SIK1_chr21_43409483_43432131 | 43410223 | TCCTCCCT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0007a0002c0002t0002others(1): Show | a0001c0001t0001g0002a0001c0003t0007g0006a0002c0002t0002g0001others(3): Show | 12 | 32 | 0.3750 | -9 | c.*65 others(20): Show |
SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 4259 | chr21 | TogoVar | ||||||
SIK1_chr21_43409483_43432131 | 43426970 | CCCGCCGC others(2): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02572.hp1 others(7): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0002a0002c0002t0010a0004c0005t0008 | a0002c0002t0002g0001a0002c0002t0002g0015a0002c0002t0002g0016others(2): Show | 10 | 32 | 0.3125 | -9 | c.-15 others(22): Show |
SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 1/13 | chr21 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 116858282 | TTGCTGTT others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG02486.hp1 HG02630.hp2 HG02895.hp1 others(1): Show |
a0005 | a0005c0007 | a0005c0007t0010 | a0005c0007t0010g0015a0005c0007t0010g0038a0005c0007t0010g0054others(1): Show | 4 | 366 | 0.0109 | -9 | c.317 others(18): Show |
p.Gln others(15): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 21/25 | 3195/6364 | 3174/4110 | 1058/1369 | chr11 | TogoVar | ||
SIK3_chr11_116838402_117103428 | 116922907 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00735.hp1 others(44): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0360a0001c0001t0002g0273a0001c0001t0004g0313others(44): Show | 47 | 366 | 0.1284 | -9 | c.616 others(26): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 117002404 | TTAAGGGA others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00738.hp2 others(41): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0026others(3): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0029others(4): Show | a0001c0001t0002g0080a0001c0001t0002g0086a0001c0001t0002g0087others(41): Show | 44 | 366 | 0.1202 | -9 | c.274 others(28): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar |