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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RUNX1T1_chr8_91949972_92108385 | 91959412 | TTGTGTGT others(17): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03130.hp2 HG03195.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0061a0001c0001t0062a0001c0001t0082others(1): Show | a0001c0001t0061g0049a0001c0001t0062g0063a0001c0001t0082g0084others(1): Show | 4 | 132 | 0.0303 | -24 | c.*80 others(33): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 12/12 | 806 | chr8 | TogoVar | |||||
RUNX1_chr21_34782801_35054302 | 35047549 | ACACACAC others(17): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0019 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(3): Show | 6 | 170 | 0.0353 | -24 | c.58+ others(39): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35491827 | TAGTCCCA others(17): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0304 | 1 | 322 | 0.0031 | -24 | c.-93 others(41): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
RUSC2_chr9_35485111_35566895 | 35521891 | GATGACCT others(17): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0054 | 1 | 322 | 0.0031 | -24 | c.-92 others(43): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
RXRA_chr9_134321455_134445585 | 134409271 | CGCGTGGG others(17): Show |
C | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0079 | 2 | 232 | 0.0086 | -24 | c.610 others(39): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
RYR1_chr19_38428691_38592564 | 38433741 | CCCCAGCC others(17): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02630.hp1 | a0004 | a0004c0115 | a0004c0115t0004 | a0004c0115t0004g0216 | 1 | 218 | 0.0046 | -24 | c.-78 others(31): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/106 | 55 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
RYR1_chr19_38428691_38592564 | 38468044 | TCCATCAT others(17): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0018 | a0018c0083 | a0018c0083t0002 | a0018c0083t0002g0211 | 1 | 218 | 0.0046 | -24 | c.338 others(41): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RYR1_chr19_38428691_38592564 | 38502790 | GGCAGGGG others(17): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01071.hp2 HG01123.hp1 others(19): Show |
a0001a0002a0003others(5): Show | a0001c0005a0001c0011a0001c0020others(16): Show | a0001c0005t0001a0001c0011t0001a0001c0020t0001others(16): Show | a0001c0005t0001g0155a0001c0011t0001g0003a0001c0011t0001g0005others(19): Show | 22 | 218 | 0.1009 | -24 | c.783 others(39): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RYR1_chr19_38428691_38592564 | 38590384 | AAAAAAAA others(17): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0004 | a0004c0015 | a0004c0015t0001 | a0004c0015t0001g0187 | 1 | 218 | 0.0046 | -24 | c.*29 others(35): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2821 | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38590386 | AAAAAAAA others(17): Show |
A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02698.hp2 NA19043.hp2 |
a0001a0004a0026 | a0001c0003a0004c0015a0026c0046 | a0001c0003t0001a0004c0015t0001a0026c0046t0001 | a0001c0003t0001g0116a0004c0015t0001g0098a0026c0046t0001g0127 | 3 | 218 | 0.0138 | -24 | c.*29 others(35): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2823 | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38590392 | AAAATATA others(17): Show |
A | downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0054 | a0001c0054t0001 | a0001c0054t0001g0136 | 1 | 218 | 0.0046 | -24 | c.*29 others(35): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2829 | chr19 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237082524 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG02451.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(5): Show | a0001c0001t0038a0001c0004t0030a0001c0007t0016others(5): Show | a0001c0001t0038g0026a0001c0004t0030g0005a0001c0007t0016g0042others(5): Show | 8 | 100 | 0.0800 | -24 | c.48+ others(41): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RYR2_chr1_237037184_237838988 | 237380359 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG02451.hp2 |
a0001a0003 | a0001c0045a0003c0006 | a0001c0045t0001a0003c0006t0002 | a0001c0045t0001g0073a0003c0006t0002g0094 | 2 | 100 | 0.0200 | -24 | c.576 others(41): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 8/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RYR2_chr1_237037184_237838988 | 237641467 | GTCTGTCT others(17): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0037 | a0001c0037t0010 | a0001c0037t0010g0037 | 1 | 100 | 0.0100 | -24 | c.722 others(41): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 47/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RYR2_chr1_237037184_237838988 | 237795853 | TATGTATA others(17): Show |
T | intron_variant | MODIFIER | HG00408.hp2 NA19066.hp1 |
a0001a0002 | a0001c0005a0002c0009 | a0001c0005t0011a0002c0009t0004 | a0001c0005t0011g0061a0002c0009t0004g0067 | 2 | 100 | 0.0200 | -24 | c.139 others(43): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 96/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RYR3_chr15_33305967_33871102 | 33325725 | TCTTCCTT others(17): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02071.hp1 others(9): Show |
a0001a0003a0004others(6): Show | a0001c0002a0001c0083a0001c0096others(9): Show | a0001c0002t0007a0001c0083t0001a0001c0096t0001others(9): Show | a0001c0002t0007g0146a0001c0083t0001g0143a0001c0096t0001g0120others(9): Show | 12 | 154 | 0.0779 | -24 | c.51+ others(41): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
RYR3_chr15_33305967_33871102 | 33435972 | AATTTTAC others(17): Show |
A | intron_variant | MODIFIER | HG01071.hp1 | a0018 | a0018c0031 | a0018c0031t0003 | a0018c0031t0003g0092 | 1 | 154 | 0.0065 | -24 | c.52- others(41): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
S100P_chr4_6688878_6702170 | 6701096 | TTTATTAT others(17): Show |
T | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0016a0001c0003t0001g0006 | 7 | 482 | 0.0145 | -24 | c.*40 others(35): Show |
S100P | ENSG00000163993.7 | transcript | ENST00000296370.4 | protein_coding | 3927 | chr4 | TogoVar | ||||||
S100Z_chr5_76845014_76926650 | 76906976 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | NA18991.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0249 | 1 | 348 | 0.0029 | -24 | c.*3- others(41): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
S100Z_chr5_76845014_76926650 | 76907001 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG03041.hp2 HG03491.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0112a0002c0002t0001g0160a0002c0002t0001g0162others(3): Show | 6 | 348 | 0.0172 | -24 | c.*3- others(41): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SAA2_chr11_18240240_18253668 | 18251813 | AATTTATT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 474 | 0.0021 | -24 | c.-32 others(35): Show |
SAA2 | ENSG00000134339.9 | transcript | ENST00000256733.9 | protein_coding | 3146 | chr11 | TogoVar | ||||||
SAA2_chr11_18240240_18253668 | 18251910 | CTTTATTT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02132.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0031others(8): Show | 23 | 474 | 0.0485 | -24 | c.-33 others(35): Show |
SAA2 | ENSG00000134339.9 | transcript | ENST00000256733.9 | protein_coding | 3243 | chr11 | TogoVar | ||||||
SACS_chr13_23323830_23438702 | 23363427 | ATGTTGGC others(17): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01099.hp1 others(6): Show |
a0004a0007 | a0004c0007a0007c0013 | a0004c0007t0001a0004c0007t0017a0007c0013t0001 | a0004c0007t0001g0037a0004c0007t0001g0105a0004c0007t0001g0108others(6): Show | 9 | 378 | 0.0238 | -24 | c.457 others(41): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 6/9 | chr13 | TogoVar | ||||||
SAG_chr2_233302816_233352055 | 233330471 | CCCTCCCT others(17): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG02055.hp2 HG02615.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0043a0001c0001t0001g0047a0001c0003t0001g0326 | 3 | 368 | 0.0082 | -24 | c.733 others(39): Show |
SAG | ENSG00000130561.17 | transcript | ENST00000409110.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SAMD14_chr17_50105040_50135160 | 50131534 | CAAAAAAA others(17): Show |
C | upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0005 | 1 | 398 | 0.0025 | -24 | c.-20 others(35): Show |
SAMD14 | ENSG00000167100.15 | transcript | ENST00000330175.9 | protein_coding | 1375 | chr17 | TogoVar | ||||||
SAMD15_chr14_77372379_77397163 | 77372930 | ATATATAT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0093 | 1 | 314 | 0.0032 | -24 | c.-44 others(35): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 4448 | chr14 | TogoVar | ||||||
SAMD15_chr14_77372379_77397163 | 77372932 | ATATATAT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp1 HG03209.hp1 HG06807.hp1 others(1): Show |
a0002a0004 | a0002c0004a0004c0005 | a0002c0004t0004a0004c0005t0006 | a0002c0004t0004g0008a0002c0004t0004g0095a0002c0004t0004g0096others(1): Show | 4 | 314 | 0.0127 | -24 | c.-44 others(35): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 4446 | chr14 | TogoVar | ||||||
SAMD15_chr14_77372379_77397163 | 77372934 | ATATATAT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0008 | 1 | 314 | 0.0032 | -24 | c.-44 others(35): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 4444 | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54568690 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG02897.hp1 NA18986.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026a0001c0001t0051 | a0001c0001t0002g0138a0001c0001t0026g0137a0001c0001t0051g0261 | 3 | 262 | 0.0115 | -24 | c.196 others(39): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SAMD4A_chr14_54562128_54798312 | 54602323 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG01081.hp2 others(32): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0032others(32): Show | 35 | 262 | 0.1336 | -24 | c.196 others(43): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SAMD4A_chr14_54562128_54798312 | 54678433 | TTGTGTGT others(17): Show |
T | intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0068 | 1 | 262 | 0.0038 | -24 | c.197 others(43): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SAP130_chr2_127936222_128033059 | 127958635 | TGAGAGAG others(17): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0316 | 1 | 350 | 0.0029 | -24 | c.206 others(43): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | TogoVar | ||||||
SAR1B_chr5_134596149_134637828 | 134616843 | TTTATTCA others(17): Show |
T | intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 322 | 0.0031 | -24 | c.178 others(41): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | ||||||
SAR1B_chr5_134596149_134637828 | 134618663 | TCGTTACA others(17): Show |
T | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0186 | 1 | 322 | 0.0031 | -24 | c.178 others(41): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133661306 | CTCCAGCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0024 | 1 | 262 | 0.0038 | -24 | c.*25 others(35): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 2253 | chr9 | TogoVar | ||||||
SARS1_chr1_109208918_109243182 | 109221994 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 402 | 0.0025 | -24 | c.137 others(41): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SARS1_chr1_109208918_109243182 | 109222000 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0361 | 1 | 402 | 0.0025 | -24 | c.137 others(41): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SASH1_chr6_148337838_148557044 | 148387566 | CTCTTTCT others(17): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG02630.hp2 NA18999.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0013a0001c0001t0017a0002c0002t0001others(2): Show | a0001c0001t0013g0131a0001c0001t0017g0248a0002c0002t0001g0027others(2): Show | 5 | 322 | 0.0155 | -24 | c.157 others(41): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SASH1_chr6_148337838_148557044 | 148421134 | GAAGGAAG others(17): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG01358.hp1 HG02723.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(7): Show | a0001c0001t0002g0023a0001c0001t0002g0202a0001c0001t0005g0269others(10): Show | 13 | 322 | 0.0404 | -24 | c.286 others(43): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SASH1_chr6_148337838_148557044 | 148421138 | GAAGGAAG others(17): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG03942.hp1 |
a0002a0003 | a0002c0002a0002c0010a0003c0011 | a0002c0002t0004a0002c0010t0003a0003c0011t0002 | a0002c0002t0004g0203a0002c0010t0003g0147a0003c0011t0002g0081 | 3 | 322 | 0.0093 | -24 | c.286 others(43): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SASH1_chr6_148337838_148557044 | 148421146 | GAAGAAAG others(17): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG03831.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0001 | a0001c0001t0006g0181a0001c0003t0001g0135 | 2 | 322 | 0.0062 | -24 | c.286 others(43): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SASH1_chr6_148337838_148557044 | 148486936 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01192.hp2 HG01358.hp2 others(22): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0002c0004others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(13): Show | a0001c0001t0002g0092a0001c0001t0002g0202a0001c0001t0005g0247others(22): Show | 25 | 322 | 0.0776 | -24 | c.628 others(39): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SASH1_chr6_148337838_148557044 | 148537776 | CTGTGTGT others(17): Show |
C | intron_variant | MODIFIER | HG02976.hp1 HG03486.hp2 NA18906.hp2 |
a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0277a0002c0004t0011g0279a0002c0004t0011g0284 | 3 | 322 | 0.0093 | -24 | c.209 others(43): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SASH3_chrX_129774949_129800201 | 129789145 | GAAAGAAA others(17): Show |
G | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 307 | 0.0033 | -24 | c.300 others(39): Show |
SASH3 | ENSG00000122122.10 | transcript | ENST00000356892.4 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SATB2_chr2_199264505_199462939 | 199386700 | GCGCGCGC others(17): Show |
G | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 254 | 0.0039 | -24 | c.347 others(41): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
SATB2_chr2_199264505_199462939 | 199386704 | GCGCGCGC others(17): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG01496.hp1 HG02004.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0126a0001c0001t0001g0156a0001c0001t0001g0171others(10): Show | 13 | 254 | 0.0512 | -24 | c.347 others(41): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
SATB2_chr2_199264505_199462939 | 199386706 | GCGCGCGC others(17): Show |
G | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208a0001c0001t0003g0209 | 2 | 254 | 0.0079 | -24 | c.347 others(41): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
SATB2_chr2_199264505_199462939 | 199386708 | GCGCGCGC others(17): Show |
G | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 254 | 0.0039 | -24 | c.347 others(41): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
SATB2_chr2_199264505_199462939 | 199386710 | GCGCGCGC others(17): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG01346.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0029a0001c0001t0002g0181a0001c0001t0002g0182others(2): Show | 5 | 254 | 0.0197 | -24 | c.347 others(41): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
SATL1_chrX_85087284_85248779 | 85156813 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG01515.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0078a0001c0001t0001g0107a0001c0001t0001g0108others(10): Show | 13 | 232 | 0.0560 | -24 | c.-31 others(45): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar |