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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SBF2_chr11_9773668_10299219 | 9865710 | AAAAAAAG | A | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02486.hp2 others(9): Show |
a0001a0007 | a0001c0001a0001c0005a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0109 a0001c0001t0003g0177 a0001c0001t0005g0190 others(9): Show |
12 | 222 | 0.0541 | -7 | c.193 others(26): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 17/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9923757 | TCTTTACC | T | intron_variant | MODIFIER | HG02145.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0184 a0001c0001t0002g0189 |
2 | 222 | 0.0090 | -7 | c.186 others(28): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 16/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10014522 | AAAAAAAC | A | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG02055.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0007a0001c0005t0001 | a0001c0001t0001g0211 a0001c0001t0007g0208 a0001c0001t0007g0212 others(2): Show |
5 | 222 | 0.0225 | -7 | c.620 others(26): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 6/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10264317 | ACTGACAG | A | intron_variant | MODIFIER | HG01109.hp1 HG01346.hp2 HG01943.hp2 others(8): Show |
a0001a0007 | a0001c0001a0001c0005a0007c0009 | a0001c0001t0002a0001c0001t0005a0001c0001t0018others(3): Show | a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0005g0203 others(8): Show |
11 | 222 | 0.0495 | -7 | c.55+ others(24): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBK2_chr19_55523611_55542133 | 55529595 | CAGAGAGG | C | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(107): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0013others(9): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(23): Show | a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 others(69): Show |
110 | 432 | 0.2546 | -7 | c.*13 others(16): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 4/4 | 131 | chr19 | TogoVar | ||||||
SBK2_chr19_55523611_55542133 | 55533623 | ACAGTCCG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(326): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0004a0001c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(170): Show |
329 | 432 | 0.7616 | -7 | c.254 others(24): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
SBK3_chr19_55535656_55550543 | 55549434 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01099.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0001 a0004c0008t0001g0067 |
7 | 40 | 0.1750 | -7 | c.-38 others(18): Show |
SBK3 | ENSG00000231274.5 | transcript | ENST00000612221.1 | protein_coding | 3892 | chr19 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123316149 | CATATACT | C | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02647.hp1 others(7): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0023a0001c0005t0006a0001c0005t0045others(2): Show | a0001c0003t0023g0025 a0001c0005t0006g0103 a0001c0005t0006g0104 others(7): Show |
10 | 258 | 0.0388 | -7 | c.293 others(24): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 21/31 | chr12 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123325776 | AATTTAGG | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(88): Show |
a0001a0005a0006 | a0001c0001a0001c0015a0005c0016others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(20): Show | a0001c0001t0001g0098 a0001c0001t0001g0120 a0001c0001t0001g0121 others(88): Show |
91 | 258 | 0.3527 | -7 | c.187 others(24): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 14/31 | chr12 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1165748 | TCTCAGAC | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(50): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(14): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0023 others(50): Show |
53 | 202 | 0.2624 | -7 | c.-12 others(26): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SC5D_chr11_121287771_121318410 | 121314315 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01123.hp1 HG01168.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0003g0003 a0001c0001t0004g0004 a0001c0001t0004g0100 others(6): Show |
20 | 74 | 0.2703 | -7 | c.*68 others(18): Show |
SC5D | ENSG00000109929.10 | transcript | ENST00000264027.9 | protein_coding | 906 | chr11 | TogoVar | |||||||
SCAF4_chr21_31666000_31737118 | 31735263 | GAAAAAAA | G | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01261.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001a0001c0005t0002 | a0001c0001t0001g0105 a0001c0001t0001g0317 a0001c0001t0001g0318 others(3): Show |
6 | 20 | 0.3000 | -7 | c.-35 others(18): Show |
SCAF4 | ENSG00000156304.15 | transcript | ENST00000286835.12 | protein_coding | 3146 | chr21 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 124939546 | CTTTCTTT | C | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01884.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0015a0001c0001t0047 | a0001c0001t0010g0211 a0001c0001t0010g0212 a0001c0001t0010g0213 others(6): Show |
9 | 303 | 0.0297 | -7 | c.*13 others(20): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 3061 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125004770 | TATATATA | T | intron_variant | MODIFIER | HG00558.hp1 HG02965.hp1 NA18612.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0066 | a0001c0001t0003g0166 a0001c0001t0013g0134 a0001c0001t0013g0161 others(3): Show |
6 | 293 | 0.0205 | -7 | c.862 others(24): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125004772 | TATATATA | T | intron_variant | MODIFIER | HG01257.hp2 HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 a0001c0001t0002g0196 a0001c0001t0002g0197 |
3 | 300 | 0.0100 | -7 | c.862 others(24): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125042858 | CTTTTTTT | C | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0029a0001c0001t0067 | a0001c0001t0018g0181 a0001c0001t0018g0187 a0001c0001t0018g0188 others(3): Show |
6 | 117 | 0.0513 | -7 | c.230 others(26): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 3/17 | chr9 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78443212 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02630.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0023a0002c0003t0007 | a0001c0001t0023g0010 a0002c0003t0007g0165 a0002c0003t0007g0167 others(7): Show |
10 | 153 | 0.0654 | -7 | c.633 others(24): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP2_chr15_74838730_74878365 | 74874637 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG02559.hp2 HG03225.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0011 | a0001c0001t0001g0003 a0001c0001t0001g0077 a0001c0001t0009g0261 others(3): Show |
6 | 347 | 0.0173 | -7 | c.-13 others(18): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1273 | chr15 | TogoVar | |||||||
SCAMP4_chr19_1900399_1931013 | 1923786 | TTATTTTG | T | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG01884.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0050 others(16): Show |
19 | 440 | 0.0432 | -7 | c.514 others(22): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SCAPER_chr15_76342904_76910340 | 76466419 | CTTTTTTT | C | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02809.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0023 | a0001c0001t0001a0002c0003t0002a0002c0003t0011others(1): Show | a0001c0001t0001g0213 a0001c0001t0001g0214 a0002c0003t0002g0200 others(12): Show |
15 | 66 | 0.2273 | -7 | c.307 others(26): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 25/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76535521 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG01109.hp2 others(37): Show |
a0001a0006a0007 | a0001c0001a0006c0013a0007c0020 | a0001c0001t0003a0001c0001t0004a0006c0013t0003others(1): Show | a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 others(37): Show |
40 | 148 | 0.2703 | -7 | c.283 others(28): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 23/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76674821 | CATAATAT | C | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01081.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002a0002c0003t0011 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(21): Show |
24 | 310 | 0.0774 | -7 | c.250 others(26): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 20/31 | chr15 | TogoVar | |||||||
SCARA3_chr8_27628902_27678018 | 27637257 | GCTGGCAC | G | intron_variant | MODIFIER | HG03831.hp1 HG04199.hp1 NA18995.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0018 a0002c0002t0012g0107 a0002c0002t0012g0108 |
4 | 406 | 0.0099 | -7 | c.7+3 others(20): Show |
SCARA3 | ENSG00000168077.14 | transcript | ENST00000301904.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SCARA3_chr8_27628902_27678018 | 27646965 | CGCCCCCG | C | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01070.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0021others(4): Show | a0001c0001t0003g0008 a0001c0001t0003g0019 a0001c0001t0003g0020 others(38): Show |
46 | 406 | 0.1133 | -7 | c.8-2 others(20): Show |
SCARA3 | ENSG00000168077.14 | transcript | ENST00000301904.4 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
SCARA3_chr8_27628902_27678018 | 27659873 | AAAAAGAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0032 a0001c0001t0002g0287 a0001c0001t0002g0289 others(65): Show |
73 | 406 | 0.1798 | -7 | c.136 others(24): Show |
SCARA3 | ENSG00000168077.14 | transcript | ENST00000301904.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27865787 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG01192.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0047a0001c0004t0003a0001c0004t0006others(4): Show | a0001c0001t0047g0101 a0001c0004t0003g0212 a0001c0004t0003g0217 others(9): Show |
12 | 200 | 0.0600 | -7 | c.*61 others(18): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4095 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27898895 | TGAACACA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(294): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(125): Show | a0001c0001t0001g0001 a0001c0001t0001g0146 a0001c0001t0001g0148 others(293): Show |
297 | 312 | 0.9519 | -7 | c.115 others(26): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124837504 | GGAGAAAA | G | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG02615.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0152 a0001c0001t0003g0025 a0001c0001t0003g0029 others(7): Show |
10 | 351 | 0.0285 | -7 | c.127 others(26): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124837556 | AAGAAAAG | A | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 others(20): Show |
23 | 307 | 0.0749 | -7 | c.127 others(26): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SCART1_chr10_133448945_133474760 | 133464740 | CTGGGGTG | C | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(99): Show |
a0003a0004a0007others(7): Show | a0003c0003a0003c0007a0003c0008others(24): Show | a0003c0003t0003a0003c0007t0003a0003c0008t0003others(28): Show | a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(68): Show |
102 | 431 | 0.2367 | -7 | c.211 others(16): Show |
p.Val others(5): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 7/12 | 2170/4929 | 2117/3084 | 706/1027 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
SCCPDH_chr1_246719409_246773137 | 246721724 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG01981.hp1 HG02145.hp1 HG02622.hp1 others(7): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0052 a0001c0001t0002g0258 a0001c0001t0002g0259 others(4): Show |
10 | 181 | 0.0552 | -7 | c.-26 others(18): Show |
SCCPDH | ENSG00000143653.10 | transcript | ENST00000366510.4 | protein_coding | 2684 | chr1 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82644713 | CATGTAGG | C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0003g0098 a0001c0001t0004g0079 a0001c0001t0009g0198 others(2): Show |
5 | 208 | 0.0240 | -7 | c.570 others(24): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82658630 | CTTTTTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02615.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0012others(4): Show | a0001c0001t0003g0012 a0001c0001t0003g0048 a0001c0001t0003g0073 others(10): Show |
13 | 17 | 0.7647 | -7 | c.570 others(26): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82700787 | TAAAAAAA | T | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00621.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0050 a0001c0001t0001g0055 others(20): Show |
23 | 24 | 0.9583 | -7 | c.363 others(24): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SCFD1_chr14_30617319_30740850 | 30665761 | GACTTTAA | G | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02572.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0199 others(6): Show |
9 | 326 | 0.0276 | -7 | c.856 others(24): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51709697 | ATATATTT | A | intron_variant | MODIFIER | HG00642.hp2 HG01496.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0139 a0001c0001t0001g0280 a0001c0001t0002g0005 others(4): Show |
7 | 312 | 0.0224 | -7 | c.120 others(26): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51709699 | ATATTTTT | A | intron_variant | MODIFIER | HG03098.hp2 NA18747.hp2 NA18948.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0151 a0001c0001t0001g0295 a0001c0001t0002g0001 others(3): Show |
6 | 283 | 0.0212 | -7 | c.120 others(26): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51709701 | ATTTTTTT | A | intron_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG02155.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0003 | a0001c0001t0001g0009 a0001c0001t0001g0172 a0001c0001t0002g0001 others(5): Show |
8 | 235 | 0.0340 | -7 | c.120 others(26): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCGB1C2_chr17_132569_144067 | 136416 | TACCCCTA | T | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02922.hp1 NA18945.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0010 |
4 | 219 | 0.0183 | -7 | c.-11 others(18): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 1152 | chr17 | TogoVar | |||||||
SCGB2A1_chr11_62203673_62218943 | 62210386 | CTTTTTTT | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(263): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
266 | 373 | 0.7131 | -7 | c.56- others(17): Show |
SCGB2A1 | ENSG00000124939.6 | transcript | ENST00000244930.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SCGB2B2_chr19_34585644_34682159 | 34608816 | TTTCTTTC | T | intron_variant | MODIFIER | HG01106.hp2 HG02129.hp2 HG02165.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0048a0001c0001t0122a0001c0001t0125others(1): Show | a0001c0001t0048g0331 a0001c0001t0048g0333 a0001c0001t0122g0329 others(2): Show |
5 | 368 | 0.0136 | -7 | c.-20 others(30): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCGB2B2_chr19_34585644_34682159 | 34612022 | CTTTTTTT | C | intron_variant | MODIFIER | HG01081.hp2 HG01258.hp2 HG01978.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0073 others(14): Show |
17 | 35 | 0.4857 | -7 | c.-20 others(30): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCHIP1_chr3_159268244_159902359 | 159626293 | TAGATAGA | T | intron_variant | MODIFIER | HG02630.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0023 |
2 | 100 | 0.0200 | -7 | c.64- others(26): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
SCHIP1_chr3_159268244_159902359 | 159778213 | TCTATCTC | T | intron_variant | MODIFIER | HG00438.hp2 HG01106.hp1 HG02027.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 others(16): Show |
19 | 100 | 0.1900 | -7 | c.759 others(26): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12576730 | TGACCTCA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(200): Show |
a0001a0002a0004others(10): Show | a0001c0001a0002c0002a0002c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(147): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 others(198): Show |
203 | 370 | 0.5486 | -7 | c.200 others(24): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12612043 | CTGTACTT | C | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp1 HG03516.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0002t0020a0002c0003t0047 | a0002c0002t0002g0247 a0002c0002t0020g0244 a0002c0003t0047g0070 |
3 | 370 | 0.0081 | -7 | c.666 others(24): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12658943 | GTTGTTGT | G | 3_prime_UTR_variant | MODIFIER | HG02723.hp2 HG02922.hp2 HG02970.hp1 others(11): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0002c0014others(4): Show | a0001c0001t0006a0001c0001t0050a0001c0001t0136others(8): Show | a0001c0001t0006g0016 a0001c0001t0050g0349 a0001c0001t0136g0117 others(11): Show |
14 | 370 | 0.0378 | -7 | c.*62 others(18): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 6234 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SCLT1_chr4_128878993_129098539 | 129024249 | TCTGACCC | T | intron_variant | MODIFIER | HG01167.hp1 HG01168.hp2 HG01169.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0006a0002c0009 | a0001c0002t0001a0002c0006t0001a0002c0009t0001 | a0001c0002t0001g0085 a0002c0006t0001g0182 a0002c0006t0001g0183 others(1): Show |
4 | 286 | 0.0140 | -7 | c.290 others(26): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 5/20 | chr4 | TogoVar | |||||||
SCLY_chr2_238056001_238104413 | 238076732 | AAAAAAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(147): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(74): Show | a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0028 others(126): Show |
150 | 390 | 0.3846 | -7 | c.485 others(24): Show |
SCLY | ENSG00000132330.18 | transcript | ENST00000254663.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCMH1_chr1_41022202_41247306 | 41136773 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(40): Show |
a0001a0005 | a0001c0001a0005c0003 | a0001c0001t0002a0005c0003t0002 | a0001c0001t0002g0006 a0001c0001t0002g0065 a0001c0001t0002g0066 others(40): Show |
43 | 228 | 0.1886 | -7 | c.412 others(24): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 6/15 | chr1 | TogoVar |