| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SAAL1_chr11_18075292_18111082 | 18090417 | T | TAAAAGGA others(23): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0121 | 1 | 284 | 0.0035 | 30 | c.460 others(40): Show |
SAAL1 | ENSG00000166788.10 | transcript | ENST00000524803.6 | protein_coding | 5/11 | chr11 | TogoVar | ||||||
| SAC3D1_chr11_65036210_65049828 | 65039029 | C | CTTTTTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 352 | 0.0028 | 30 | c.-22 others(41): Show |
SAC3D1 | ENSG00000168061.17 | transcript | ENST00000652489.1 | protein_coding | 2180 | chr11 | TogoVar | ||||||
| SACM1L_chr3_45684396_45750409 | 45686663 | A | ATATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0018 | 1 | 354 | 0.0028 | 30 | c.-28 others(41): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2732 | chr3 | TogoVar | ||||||
| SACM1L_chr3_45684396_45750409 | 45686663 | A | ATATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 NA18987.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005 | a0001c0002t0003g0002a0001c0002t0005g0161 | 2 | 354 | 0.0057 | 30 | c.-28 others(41): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2732 | chr3 | TogoVar | ||||||
| SACM1L_chr3_45684396_45750409 | 45686663 | A | ATATATAT others(23): Show |
upstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0135 | 1 | 354 | 0.0028 | 30 | c.-28 others(41): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2732 | chr3 | TogoVar | ||||||
| SAE1_chr19_47125835_47215636 | 47182496 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 380 | 0.0026 | 30 | c.733 others(49): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| SAE1_chr19_47125835_47215636 | 47201360 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 380 | 0.0026 | 30 | c.879 others(47): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934259 | C | CGGGGGAG others(23): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0364 | 1 | 434 | 0.0023 | 30 | c.843 others(47): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | chr1 | TogoVar | ||||||
| SAMD11_chr1_918923_949574 | 934511 | C | CGGGGGGG others(23): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0013 | a0013c0020 | a0013c0020t0002 | a0013c0020t0002g0318 | 1 | 434 | 0.0023 | 30 | c.843 others(47): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934517 | G | GGGCGGCT others(23): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0009 | a0009c0013 | a0009c0013t0002 | a0009c0013t0002g0288 | 1 | 434 | 0.0023 | 30 | c.843 others(47): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934567 | C | CGGGGGGG others(23): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02922.hp2 |
a0018a0024 | a0018c0030a0024c0037 | a0018c0030t0006a0024c0037t0006 | a0018c0030t0006g0301a0024c0037t0006g0307 | 2 | 434 | 0.0046 | 30 | c.843 others(47): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934595 | C | CGGGGGGG others(23): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0019 | a0001c0019t0006 | a0001c0019t0006g0282 | 1 | 434 | 0.0023 | 30 | c.843 others(47): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934657 | A | AGGCGGCT others(23): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0013 | a0013c0020 | a0013c0020t0002 | a0013c0020t0002g0318 | 1 | 434 | 0.0023 | 30 | c.843 others(47): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934679 | C | CGGGGGAG others(23): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0270 | 1 | 434 | 0.0023 | 30 | c.843 others(47): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD8_chr10_75106656_75187123 | 75148346 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03471.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0143a0001c0001t0004g0128 | 2 | 324 | 0.0062 | 30 | c.-15 others(47): Show |
SAMD8 | ENSG00000156671.15 | transcript | ENST00000542569.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| SAP130_chr2_127936222_128033059 | 128023907 | T | TTATTCTA others(23): Show |
intron_variant | MODIFIER | HG02738.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173a0001c0001t0001g0174 | 2 | 350 | 0.0057 | 30 | c.112 others(47): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | TogoVar | ||||||
| SAP25_chr7_100567228_100578900 | 100574632 | G | GCGCGCAC others(23): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0018 | 1 | 386 | 0.0026 | 30 | c.-89 others(39): Show |
SAP25 | ENSG00000205307.12 | transcript | ENST00000622764.3 | protein_coding | 733 | chr7 | TogoVar | ||||||
| SAP25_chr7_100567228_100578900 | 100574632 | G | GCGCGCGC others(23): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 386 | 0.0052 | 30 | c.-89 others(39): Show |
SAP25 | ENSG00000205307.12 | transcript | ENST00000622764.3 | protein_coding | 733 | chr7 | TogoVar | ||||||
| SAR1A_chr10_70142289_70175514 | 70149547 | A | ATTTTTTT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0108 | a0001c0001t0108g0159 | 1 | 420 | 0.0024 | 30 | c.*29 others(41): Show |
SAR1A | ENSG00000079332.16 | transcript | ENST00000373241.9 | protein_coding | 7/7 | 2928 | chr10 | TogoVar | |||||
| SARAF_chr8_30058003_30088064 | 30064561 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 360 | 0.0028 | 30 | c.995 others(45): Show |
SARAF | ENSG00000133872.14 | transcript | ENST00000256255.11 | protein_coding | 5/5 | chr8 | TogoVar | ||||||
| SARDH_chr9_133658560_133743352 | 133726368 | A | AAATAATA others(23): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02922.hp2 |
a0001a0003 | a0001c0055a0003c0003 | a0001c0055t0001a0003c0003t0001 | a0001c0055t0001g0155a0003c0003t0001g0053 | 2 | 262 | 0.0076 | 30 | c.915 others(47): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 6/20 | chr9 | TogoVar | ||||||
| SARDH_chr9_133658560_133743352 | 133726394 | A | ATAATAAT others(23): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01496.hp2 HG02135.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0004others(5): Show | a0001c0001t0001a0001c0006t0002a0002c0004t0001others(6): Show | a0001c0001t0001g0131a0001c0001t0001g0132a0001c0001t0001g0165others(9): Show | 12 | 262 | 0.0458 | 30 | c.915 others(47): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 6/20 | chr9 | TogoVar | ||||||
| SARDH_chr9_133658560_133743352 | 133726394 | A | ATAATAAT others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02735.hp2 |
a0002 | a0002c0021 | a0002c0021t0001a0002c0021t0003 | a0002c0021t0001g0150a0002c0021t0003g0209 | 2 | 262 | 0.0076 | 30 | c.915 others(47): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 6/20 | chr9 | TogoVar | ||||||
| SASH1_chr6_148337838_148557044 | 148368768 | G | GTGCGCAC others(23): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01884.hp2 HG02055.hp2 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0007a0001c0009others(4): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0017others(10): Show | a0001c0001t0002g0144a0001c0001t0002g0218a0001c0001t0002g0222others(14): Show | 17 | 322 | 0.0528 | 30 | c.157 others(49): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | chr6 | TogoVar | ||||||
| SASH1_chr6_148337838_148557044 | 148368768 | G | GTGCGCAC others(23): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0220 | 1 | 322 | 0.0031 | 30 | c.157 others(49): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | chr6 | TogoVar | ||||||
| SASH1_chr6_148337838_148557044 | 148381617 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0286 | 1 | 322 | 0.0031 | 30 | c.157 others(47): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SASH1_chr6_148337838_148557044 | 148387564 | T | TCTTCTTT others(23): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0003 | a0003c0020 | a0003c0020t0002 | a0003c0020t0002g0162 | 1 | 322 | 0.0031 | 30 | c.157 others(47): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | chr6 | TogoVar | ||||||
| SASH1_chr6_148337838_148557044 | 148449078 | C | CTTTTTCT others(23): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02145.hp1 HG02723.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0005a0001c0001t0008a0001c0003t0007others(3): Show | a0001c0001t0005g0256a0001c0001t0008g0063a0001c0003t0007g0234others(3): Show | 6 | 322 | 0.0186 | 30 | c.386 others(47): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SASH1_chr6_148337838_148557044 | 148449078 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0020 | 1 | 322 | 0.0031 | 30 | c.386 others(47): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SATB2_chr2_199264505_199462939 | 199355215 | A | AGTGTGTA others(23): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106a0001c0001t0001g0169 | 2 | 254 | 0.0079 | 30 | c.701 others(47): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 6/10 | chr2 | TogoVar | ||||||
| SATL1_chrX_85087284_85248779 | 85088095 | T | TATACATA others(23): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0003 | 1 | 232 | 0.0043 | 30 | c.*42 others(41): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4188 | chrX | TogoVar | ||||||
| SATL1_chrX_85087284_85248779 | 85088169 | C | CATATATA others(23): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0098 | 1 | 232 | 0.0043 | 30 | c.*42 others(41): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4114 | chrX | TogoVar | ||||||
| SATL1_chrX_85087284_85248779 | 85118087 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0102 | 2 | 232 | 0.0086 | 30 | c.-31 others(49): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | ||||||
| SAXO1_chr9_18922650_19038209 | 18926044 | A | AAGGGATG others(23): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(164): Show |
a0001a0002a0003others(17): Show | a0001c0001a0002c0002a0003c0003others(20): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(62): Show | a0001c0001t0001g0273a0001c0001t0001g0274a0001c0001t0001g0293others(163): Show | 167 | 364 | 0.4588 | 30 | c.*20 others(41): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1605 | chr9 | TogoVar | ||||||
| SBF2_chr11_9773668_10299219 | 9994577 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01243.hp1 HG01975.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0002c0002t0004others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0003g0034others(8): Show | 11 | 224 | 0.0491 | 30 | c.976 others(45): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 9/39 | chr11 | TogoVar | ||||||
| SBF2_chr11_9773668_10299219 | 10196866 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0163 | 1 | 224 | 0.0045 | 30 | c.56- others(45): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | ||||||
| SBF2_chr11_9773668_10299219 | 10196866 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0154 | 1 | 224 | 0.0045 | 30 | c.56- others(45): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | ||||||
| SCAF1_chr19_49637209_49663642 | 49659984 | T | TACACACA others(23): Show |
downstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0078 | 1 | 382 | 0.0026 | 30 | c.*15 others(41): Show |
SCAF1 | ENSG00000126461.15 | transcript | ENST00000360565.8 | protein_coding | 1343 | chr19 | TogoVar | ||||||
| SCAF1_chr19_49637209_49663642 | 49659984 | T | TACACACA others(23): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0006 | 1 | 382 | 0.0026 | 30 | c.*15 others(41): Show |
SCAF1 | ENSG00000126461.15 | transcript | ENST00000360565.8 | protein_coding | 1343 | chr19 | TogoVar | ||||||
| SCAF8_chr6_154728416_154839221 | 154770388 | A | ACACACTC others(23): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0256 | 1 | 282 | 0.0036 | 30 | c.31- others(45): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SCAF8_chr6_154728416_154839221 | 154784120 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 282 | 0.0036 | 30 | c.160 others(47): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SCAF8_chr6_154728416_154839221 | 154796389 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0156 | 1 | 282 | 0.0036 | 30 | c.606 others(47): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SCAI_chr9_124937608_125148528 | 125042634 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0137 | 1 | 306 | 0.0033 | 30 | c.231 others(49): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 3/17 | chr9 | TogoVar | ||||||
| SCAI_chr9_124937608_125148528 | 125042634 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0293 | 1 | 306 | 0.0033 | 30 | c.231 others(49): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 3/17 | chr9 | TogoVar | ||||||
| SCAI_chr9_124937608_125148528 | 125042634 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0295 | 1 | 306 | 0.0033 | 30 | c.231 others(49): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 3/17 | chr9 | TogoVar | ||||||
| SCAI_chr9_124937608_125148528 | 125073092 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 306 | 0.0033 | 30 | c.99- others(47): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | ||||||
| SCAI_chr9_124937608_125148528 | 125106122 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01261.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0007 | a0001c0001t0003g0165a0002c0002t0007g0255 | 2 | 306 | 0.0065 | 30 | c.98+ others(47): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | ||||||
| SCAI_chr9_124937608_125148528 | 125106122 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0140 | 1 | 306 | 0.0033 | 30 | c.98+ others(47): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | ||||||
| SCAI_chr9_124937608_125148528 | 125106122 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0267 | 1 | 306 | 0.0033 | 30 | c.98+ others(47): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | ||||||
| SCAMP1_chr5_78355617_78485739 | 78404453 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0168 | 1 | 332 | 0.0030 | 30 | c.136 others(49): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |