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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SATB2_chr2_199264505_199462939 | 199386714 | GCGCACAC others(11): Show |
G | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 246 | 0.0041 | -18 | c.347 others(35): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85156813 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02109.hp1 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0038 a0001c0001t0004g0049 |
2 | 11 | 0.1818 | -18 | c.-31 others(39): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85220644 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG03669.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 a0001c0001t0002g0037 a0001c0001t0002g0044 |
3 | 22 | 0.1364 | -18 | c.-31 others(37): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SAYSD1_chr6_39099063_39120186 | 39114903 | CCCGGGCA others(11): Show |
C | conservative_inframe_deletion | MODERATE | NA18981.hp1 NA19011.hp2 NA19054.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036 | 3 | 458 | 0.0066 | -18 | c.169 others(25): Show |
p.Arg others(11): Show |
SAYSD1 | ENSG00000112167.11 | transcript | ENST00000229903.5 | protein_coding | 1/2 | 283/2018 | 169/552 | 57/183 | chr6 | TogoVar | |||
SBF2_chr11_9773668_10299219 | 9942903 | GAAAGAAA others(11): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp1 others(47): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 others(47): Show |
50 | 157 | 0.3185 | -18 | c.186 others(39): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 16/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9967939 | GTCTGTCT others(11): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02135.hp2 NA18995.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0003c0004t0003 | a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0042 others(1): Show |
4 | 160 | 0.0250 | -18 | c.160 others(35): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 14/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9967959 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG01361.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0004g0009 others(2): Show |
5 | 214 | 0.0234 | -18 | c.160 others(35): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 14/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10055524 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0179 | 1 | 6 | 0.1667 | -18 | c.142 others(37): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10204872 | ATATAGGG others(11): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 222 | 0.0045 | -18 | c.56- others(35): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10223399 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01109.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0211 a0001c0001t0002g0220 a0001c0001t0002g0221 others(10): Show |
13 | 57 | 0.2281 | -18 | c.56- others(35): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10291657 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01109.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0211 a0001c0001t0002g0220 a0001c0001t0002g0221 others(10): Show |
13 | 42 | 0.3095 | -18 | c.55+ others(33): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBK1_chr16_28287525_28328849 | 28308450 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 12 | 0.0833 | -18 | c.-7- others(33): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SBK1_chr16_28287525_28328849 | 28321182 | AACACACA others(11): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0247 others(136): Show |
153 | 170 | 0.9000 | -18 | c.*30 others(27): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 300 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SBK1_chr16_28287525_28328849 | 28322917 | GCGCTCTC others(11): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG01109.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0018a0001c0001t0048others(1): Show | a0001c0001t0007g0001 a0001c0001t0007g0005 a0001c0001t0007g0024 others(13): Show |
19 | 244 | 0.0779 | -18 | c.*19 others(29): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 1998 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SBK1_chr16_28287525_28328849 | 28322919 | GCTCTCTC others(11): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01433.hp1 HG02055.hp2 HG02280.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0002g0034 a0001c0001t0004g0017 a0001c0001t0004g0031 others(11): Show |
14 | 339 | 0.0413 | -18 | c.*20 others(29): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 2010 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SBK2_chr19_55523611_55542133 | 55533659 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG03490.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0229 a0001c0006t0001g0224 |
2 | 5 | 0.4000 | -18 | c.254 others(35): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123311716 | CTATCTAT others(11): Show |
C | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 250 | 0.0040 | -18 | c.322 others(35): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 24/31 | chr12 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123311720 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG00673.hp1 others(34): Show |
a0001 | a0001c0002a0001c0011 | a0001c0002t0002a0001c0002t0009a0001c0002t0021others(9): Show | a0001c0002t0002g0218 a0001c0002t0002g0221 a0001c0002t0002g0222 others(34): Show |
37 | 162 | 0.2284 | -18 | c.322 others(35): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 24/31 | chr12 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123362435 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0067 | a0001c0003t0067g0083 | 1 | 17 | 0.0588 | -18 | c.-1+ others(33): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 1/31 | chr12 | TogoVar | |||||||
SBSPON_chr8_73059543_73098172 | 73084749 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0003 | a0003c0003 | a0003c0003t0009 | a0003c0003t0009g0051 | 1 | 70 | 0.0143 | -18 | c.215 others(35): Show |
SBSPON | ENSG00000164764.11 | transcript | ENST00000297354.7 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
SCAF11_chr12_45914131_45995574 | 45972875 | TATATAGA others(11): Show |
T | intron_variant | MODIFIER | HG02738.hp2 HG03239.hp2 HG03704.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0028 a0003c0005t0003g0029 a0003c0005t0003g0030 others(1): Show |
4 | 342 | 0.0117 | -18 | c.-21 others(35): Show |
SCAF11 | ENSG00000139218.18 | transcript | ENST00000369367.8 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
SCAF1_chr19_49637209_49663642 | 49652104 | GCCGCTCC others(11): Show |
G | conservative_inframe_deletion | MODERATE | HG03098.hp2 | a0014 | a0014c0026 | a0014c0026t0001 | a0014c0026t0001g0001 | 1 | 155 | 0.0065 | -18 | c.172 others(27): Show |
p.Arg others(13): Show |
SCAF1 | ENSG00000126461.15 | transcript | ENST00000360565.8 | protein_coding | 7/11 | 1769/4222 | 1729/3939 | 577/1312 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
SCAF1_chr19_49637209_49663642 | 49659984 | TACACACA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0004 | 1 | 150 | 0.0067 | -18 | c.*15 others(29): Show |
SCAF1 | ENSG00000126461.15 | transcript | ENST00000360565.8 | protein_coding | 1343 | chr19 | TogoVar | |||||||
SCAF4_chr21_31666000_31737118 | 31735263 | GAAAAAAA others(11): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp2 others(81): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0018 others(80): Show |
84 | 98 | 0.8571 | -18 | c.-35 others(29): Show |
SCAF4 | ENSG00000156304.15 | transcript | ENST00000286835.12 | protein_coding | 3146 | chr21 | TogoVar | |||||||
SCAF8_chr6_154728416_154839221 | 154770388 | ACTCTCTC others(11): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 a0001c0001t0001g0239 |
2 | 50 | 0.0400 | -18 | c.31- others(33): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154794772 | GTGTGGGG others(11): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG03098.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 a0001c0001t0001g0237 a0001c0001t0001g0247 |
3 | 241 | 0.0124 | -18 | c.476 others(33): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 5/19 | chr6 | TogoVar | |||||||
SCAF8_chr6_154728416_154839221 | 154794778 | GGGGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG03041.hp1 HG03195.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0011a0003c0003 | a0001c0001t0001a0001c0011t0001a0003c0003t0002 | a0001c0001t0001g0193 a0001c0001t0001g0210 a0001c0011t0001g0208 others(3): Show |
6 | 154 | 0.0390 | -18 | c.476 others(33): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154796353 | TTCTCTCT others(11): Show |
T | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 244 | 0.0041 | -18 | c.606 others(35): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154831703 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 24 | 0.0417 | -18 | c.236 others(35): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAI_chr9_124937608_125148528 | 124963956 | AAGGGGAG others(11): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp1 HG02572.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0037a0001c0001t0038others(1): Show | a0001c0001t0036g0139 a0001c0001t0037g0136 a0001c0001t0038g0137 others(1): Show |
4 | 304 | 0.0132 | -18 | c.167 others(37): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 17/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125004734 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02074.hp1 HG02809.hp2 HG03471.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0011others(1): Show | a0001c0001t0002g0008 a0001c0001t0002g0099 a0001c0001t0002g0106 others(3): Show |
6 | 210 | 0.0286 | -18 | c.862 others(35): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125004763 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02300.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0026a0001c0001t0057 | a0001c0001t0009g0097 a0001c0001t0009g0100 a0001c0001t0009g0111 others(2): Show |
5 | 300 | 0.0167 | -18 | c.862 others(35): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125004765 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0096 | 1 | 304 | 0.0033 | -18 | c.862 others(35): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78423012 | GCGCGCAC others(11): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG02809.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0031 | a0001c0001t0005g0149 a0001c0001t0005g0260 a0001c0001t0005g0261 others(1): Show |
4 | 125 | 0.0320 | -18 | c.632 others(35): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78460809 | CTTCCTTC others(11): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG02451.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0092 a0001c0001t0002g0120 a0001c0001t0011g0161 |
3 | 329 | 0.0091 | -18 | c.852 others(35): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | chr5 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78469918 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01070.hp1 HG01109.hp2 others(24): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0008a0001c0001t0019others(2): Show | a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0190 others(24): Show |
27 | 323 | 0.0836 | -18 | c.853 others(35): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP2_chr15_74838730_74878365 | 74862853 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02976.hp2 HG03225.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009 | a0001c0001t0008g0076 a0001c0001t0009g0260 a0001c0001t0009g0261 |
3 | 143 | 0.0210 | -18 | c.58- others(33): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
SCAMP2_chr15_74838730_74878365 | 74874649 | AAAAAAAA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0018 | a0001c0001t0007g0189 a0001c0001t0018g0197 |
2 | 378 | 0.0053 | -18 | c.-14 others(29): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1285 | chr15 | TogoVar | |||||||
SCAMP2_chr15_74838730_74878365 | 74874651 | AAAAAAAA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0216 | 1 | 368 | 0.0027 | -18 | c.-14 others(29): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1287 | chr15 | TogoVar | |||||||
SCAMP4_chr19_1900399_1931013 | 1904828 | GTGGAGGT others(11): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(120): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0030 others(103): Show |
123 | 440 | 0.2795 | -18 | c.-65 others(27): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 570 | chr19 | TogoVar | |||||||
SCAMP4_chr19_1900399_1931013 | 1919134 | GCAGCGCC others(11): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0155 | 1 | 440 | 0.0023 | -18 | c.395 others(33): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SCAPER_chr15_76342904_76910340 | 76495989 | GAGAGACA others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00639.hp1 others(69): Show |
a0002a0003a0011 | a0002c0002a0002c0003a0002c0011others(6): Show | a0002c0002t0002a0002c0003t0002a0002c0003t0007others(7): Show | a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 others(69): Show |
72 | 257 | 0.2802 | -18 | c.295 others(37): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 24/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76637742 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG01243.hp2 NA19012.hp1 NA19043.hp2 |
a0002a0008a0010 | a0002c0002a0008c0021a0010c0019 | a0002c0002t0002a0008c0021t0001a0010c0019t0001 | a0002c0002t0002g0277 a0008c0021t0001g0197 a0010c0019t0001g0127 |
3 | 51 | 0.0588 | -18 | c.264 others(39): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76667625 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00733.hp2 others(42): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0006a0005c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0003g0112 others(42): Show |
45 | 82 | 0.5488 | -18 | c.250 others(37): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 20/31 | chr15 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47412512 | AGCTGCAC others(11): Show |
A | downstream_gene_variant | MODIFIER | NA19001.hp2 | a0011 | a0011c0017 | a0011c0017t0001 | a0011c0017t0001g0260 | 1 | 302 | 0.0033 | -18 | c.*13 others(29): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 1168 | chr3 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47412899 | CTTCCTCC others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02132.hp1 NA19084.hp2 |
a0001a0013 | a0001c0001a0013c0016 | a0001c0001t0001a0013c0016t0001 | a0001c0001t0001g0227 a0013c0016t0001g0246 |
2 | 301 | 0.0066 | -18 | c.*93 others(27): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 781 | chr3 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27865577 | TTATATAT others(11): Show |
T | downstream_gene_variant | MODIFIER | HG01071.hp1 HG01168.hp2 HG01255.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(16): Show | a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0233 others(26): Show |
29 | 38 | 0.7632 | -18 | c.*63 others(29): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4305 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27865781 | ATATATAT others(11): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0007 | a0001c0007t0064 | a0001c0007t0064g0313 | 1 | 306 | 0.0033 | -18 | c.*61 others(29): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4101 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918643 | GGAGGAGG others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(133): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(55): Show | a0001c0001t0001g0001 a0001c0001t0001g0146 a0001c0001t0001g0148 others(132): Show |
136 | 143 | 0.9510 | -18 | c.916 others(35): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124783661 | GGAGGCTG others(11): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02280.hp2 others(9): Show |
a0001a0007 | a0001c0001a0001c0005a0007c0014 | a0001c0001t0004a0001c0001t0006a0001c0005t0004others(1): Show | a0001c0001t0004g0026 a0001c0001t0004g0042 a0001c0001t0004g0124 others(9): Show |
12 | 350 | 0.0343 | -18 | c.140 others(35): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 11/12 | chr12 | TogoVar |