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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCAI_chr9_124937608_125148528 | 125006480 | ACATTCAT others(5): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp2 HG03486.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0079 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(4): Show |
7 | 306 | 0.0229 | -12 | c.862 others(29): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125016387 | CAATAAAT others(5): Show |
C | intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0287 | 1 | 306 | 0.0033 | -12 | c.861 others(29): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125046196 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | NA18954.hp1 NA18957.hp1 NA18972.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0082a0002c0002t0084 | a0002c0002t0001g0217 a0002c0002t0082g0268 a0002c0002t0084g0231 |
3 | 306 | 0.0098 | -12 | c.230 others(29): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 3/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125084158 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00558.hp1 NA18983.hp1 NA18999.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0134 a0001c0001t0013g0160 a0001c0001t0013g0161 others(1): Show |
4 | 306 | 0.0131 | -12 | c.99- others(29): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125092131 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG00741.hp2 others(50): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006a0002c0002t0007others(9): Show | a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0220 others(50): Show |
53 | 306 | 0.1732 | -12 | c.99- others(29): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125109653 | TTATCTAT others(5): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0164 | 1 | 306 | 0.0033 | -12 | c.98+ others(29): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125125909 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02809.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0002g0099 a0001c0001t0008g0098 a0001c0001t0009g0097 others(5): Show |
8 | 306 | 0.0261 | -12 | c.98+ others(29): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125133060 | TACATGGG others(5): Show |
T | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0306 | 1 | 306 | 0.0033 | -12 | c.98+ others(27): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78382808 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG00741.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(4): Show | a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 others(34): Show |
37 | 332 | 0.1115 | -12 | c.58- others(27): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78390657 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 332 | 0.0030 | -12 | c.135 others(29): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78423012 | GCGCGCAC others(5): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp1 HG02055.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0001c0001t0025a0002c0003t0007 | a0001c0001t0006g0134 a0001c0001t0025g0138 a0002c0003t0007g0162 others(9): Show |
12 | 332 | 0.0361 | -12 | c.632 others(29): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78423016 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00558.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0014others(2): Show | a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 others(46): Show |
49 | 332 | 0.1476 | -12 | c.632 others(29): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78460742 | CTCCTTCC others(5): Show |
C | intron_variant | MODIFIER | HG01516.hp2 HG02273.hp2 HG03017.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0013 | a0001c0002t0004g0020 a0001c0002t0004g0056 a0001c0002t0004g0058 others(2): Show |
6 | 332 | 0.0181 | -12 | c.852 others(29): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP2_chr15_74838730_74878365 | 74862853 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0186 | 1 | 386 | 0.0026 | -12 | c.58- others(27): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
SCAMP2_chr15_74838730_74878365 | 74865950 | CGAAGGAA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp1 others(60): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0167 others(60): Show |
63 | 386 | 0.1632 | -12 | c.57+ others(27): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
SCAMP3_chr1_155250981_155267360 | 155252714 | ATATATAT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG03654.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 |
2 | 375 | 0.0053 | -12 | c.*35 others(23): Show |
SCAMP3 | ENSG00000116521.11 | transcript | ENST00000302631.8 | protein_coding | 3266 | chr1 | TogoVar | |||||||
SCAMP4_chr19_1900399_1931013 | 1922996 | AGGACCAT others(5): Show |
A | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 442 | 0.0023 | -12 | c.396 others(25): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SCAMP4_chr19_1900399_1931013 | 1930476 | TGTGTGTG others(5): Show |
T | downstream_gene_variant | MODIFIER | HG03471.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0174 a0001c0001t0009g0307 |
2 | 442 | 0.0045 | -12 | c.*61 others(23): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 4464 | chr19 | TogoVar | |||||||
SCAMP5_chr15_74990563_75026495 | 74990994 | CTCTTTCT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0020 |
2 | 370 | 0.0054 | -12 | c.-47 others(23): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 4568 | chr15 | TogoVar | |||||||
SCAMP5_chr15_74990563_75026495 | 75001869 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0097 | 1 | 370 | 0.0027 | -12 | c.-49 others(29): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCAND3_chr6_28565535_28592298 | 28589835 | CTTTTGTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00738.hp2 others(26): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 others(6): Show |
29 | 431 | 0.0673 | -12 | c.-31 others(23): Show |
SCAND3 | ENSG00000232040.4 | transcript | ENST00000452236.3 | protein_coding | 2538 | chr6 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76370291 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | NA18984.hp2 NA19083.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0242 a0002c0002t0002g0243 |
2 | 312 | 0.0064 | -12 | c.385 others(31): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 29/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76431676 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02630.hp1 HG02809.hp2 others(1): Show |
a0003a0013 | a0003c0003a0013c0021 | a0003c0003t0002a0013c0021t0001 | a0003c0003t0002g0191 a0003c0003t0002g0192 a0003c0003t0002g0193 others(1): Show |
4 | 312 | 0.0128 | -12 | c.331 others(31): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 26/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76476595 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02647.hp2 HG03041.hp2 others(1): Show |
a0001a0003 | a0001c0014a0003c0003 | a0001c0014t0001a0003c0003t0002 | a0001c0014t0001g0184 a0001c0014t0001g0185 a0003c0003t0002g0188 others(1): Show |
4 | 312 | 0.0128 | -12 | c.295 others(31): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 24/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76488714 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02080.hp2 HG02683.hp2 NA19057.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0040 a0001c0001t0001g0103 a0001c0005t0001g0058 |
3 | 312 | 0.0096 | -12 | c.295 others(33): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 24/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76495989 | GAGAGACA others(5): Show |
G | intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0256 | 1 | 312 | 0.0032 | -12 | c.295 others(31): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 24/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76495991 | GAGACACA others(5): Show |
G | intron_variant | MODIFIER | HG02572.hp1 NA18906.hp1 NA19240.hp1 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0170 a0007c0009t0001g0171 a0007c0009t0001g0172 |
3 | 312 | 0.0096 | -12 | c.295 others(31): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 24/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76497989 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG01109.hp2 others(36): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0009c0013others(1): Show | a0001c0001t0003a0001c0001t0004a0002c0002t0002others(2): Show | a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 others(36): Show |
39 | 312 | 0.1250 | -12 | c.295 others(31): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 24/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76511839 | ATATATGT others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 |
3 | 312 | 0.0096 | -12 | c.283 others(31): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 23/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76568190 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(87): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0005a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0005t0001others(8): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(87): Show |
90 | 312 | 0.2885 | -12 | c.283 others(31): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 23/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76600387 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02630.hp2 others(2): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0008 | a0001c0001t0003a0003c0003t0002a0006c0008t0001 | a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0187 others(2): Show |
5 | 312 | 0.0160 | -12 | c.271 others(33): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 22/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76637740 | ATATGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0201 | 1 | 312 | 0.0032 | -12 | c.264 others(33): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76637742 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(62): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0001others(9): Show | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 others(62): Show |
65 | 312 | 0.2083 | -12 | c.264 others(33): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76652273 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0022 | a0002c0022t0002 | a0002c0022t0002g0290 | 1 | 312 | 0.0032 | -12 | c.264 others(33): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76652365 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02280.hp1 |
a0003 | a0003c0003 | a0003c0003t0005a0003c0003t0006 | a0003c0003t0005g0195 a0003c0003t0006g0196 |
2 | 312 | 0.0064 | -12 | c.264 others(33): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76652518 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG02109.hp1 others(4): Show |
a0001a0003 | a0001c0010a0003c0003 | a0001c0010t0001a0003c0003t0002 | a0001c0010t0001g0167 a0001c0010t0001g0168 a0001c0010t0001g0169 others(4): Show |
7 | 312 | 0.0224 | -12 | c.264 others(33): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76652550 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 312 | 0.0032 | -12 | c.264 others(33): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76667625 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01175.hp1 others(30): Show |
a0002a0008a0012 | a0002c0002a0008c0015a0012c0025 | a0002c0002t0002a0008c0015t0002a0012c0025t0002 | a0002c0002t0002g0194 a0002c0002t0002g0219 a0002c0002t0002g0221 others(30): Show |
33 | 312 | 0.1058 | -12 | c.250 others(31): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 20/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76673952 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00741.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0021 a0001c0001t0001g0089 a0001c0001t0001g0090 others(13): Show |
16 | 312 | 0.0513 | -12 | c.250 others(31): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 20/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76680411 | GATAATAA others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0022others(5): Show | a0001c0001t0003a0002c0002t0002a0002c0022t0002others(7): Show | a0001c0001t0003g0136 a0002c0002t0002g0190 a0002c0002t0002g0194 others(79): Show |
82 | 312 | 0.2628 | -12 | c.250 others(33): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 20/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76742466 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02886.hp1 HG03209.hp2 others(2): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0007c0009t0001 | a0001c0001t0001g0213 a0001c0001t0001g0214 a0007c0009t0001g0170 others(2): Show |
5 | 312 | 0.0160 | -12 | c.186 others(31): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 15/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76873274 | AAAGGAAG others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02027.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0110 a0001c0001t0003g0136 a0001c0001t0003g0153 others(5): Show |
8 | 312 | 0.0256 | -12 | c.6+1 others(27): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 2/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76873331 | AAGGCAGG others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00733.hp1 others(93): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 others(93): Show |
96 | 312 | 0.3077 | -12 | c.6+1 others(27): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 2/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76876053 | CTCCCAGC others(5): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 a0001c0001t0001g0214 |
2 | 312 | 0.0064 | -12 | c.6+7 others(25): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 2/31 | chr15 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47435428 | TTATAACA others(5): Show |
T | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 304 | 0.0033 | -12 | c.123 others(27): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47435465 | AACATACA others(5): Show |
A | intron_variant | MODIFIER | HG00741.hp1 NA18979.hp2 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0003c0004t0001 | a0002c0002t0001g0158 a0003c0004t0001g0140 |
2 | 304 | 0.0066 | -12 | c.123 others(27): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47443233 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02145.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 others(11): Show |
14 | 304 | 0.0461 | -12 | c.-98 others(27): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47455062 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00609.hp2 others(82): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0022a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0026 others(82): Show |
85 | 304 | 0.2796 | -12 | c.-98 others(31): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SCARA3_chr8_27628902_27678018 | 27660693 | TGATAGAT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 a0001c0001t0001g0173 |
2 | 408 | 0.0049 | -12 | c.136 others(31): Show |
SCARA3 | ENSG00000168077.14 | transcript | ENST00000301904.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SCARA3_chr8_27628902_27678018 | 27660830 | ATAGCTAG others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(150): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 others(145): Show |
153 | 408 | 0.3750 | -12 | c.136 others(31): Show |
SCARA3 | ENSG00000168077.14 | transcript | ENST00000301904.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |