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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STX8_chr17_9245471_9580820 | 9480895 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 178 | 0.0056 | 19 | c.541 others(38): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9506422 | C | CCCCCCCC others(12): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0127 | 1 | 177 | 0.0056 | 19 | c.324 others(36): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9535424 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03516.hp1 HG03579.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0067 a0001c0005t0001g0185 a0001c0005t0001g0186 |
3 | 4 | 0.7500 | 19 | c.323 others(36): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9546590 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03453.hp1 HG03516.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0002t0003a0001c0008t0002 | a0001c0002t0002g0062 a0001c0002t0003g0188 a0001c0008t0002g0187 |
3 | 118 | 0.0254 | 19 | c.213 others(36): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9559760 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0005 | 1 | 7 | 0.1429 | 19 | c.118 others(36): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
STXBP3_chr1_108741674_108814523 | 108771505 | G | GATATATA others(12): Show |
intron_variant | MODIFIER | HG02074.hp2 HG03195.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 others(1): Show |
4 | 242 | 0.0165 | 19 | c.439 others(36): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108771558 | G | GATATATA others(12): Show |
intron_variant | MODIFIER | HG00544.hp2 NA19005.hp2 NA19057.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203 a0001c0002t0001g0271 a0001c0002t0001g0272 others(2): Show |
5 | 233 | 0.0215 | 19 | c.439 others(36): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108771558 | G | GATATATA others(12): Show |
intron_variant | MODIFIER | HG03471.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 a0001c0001t0001g0309 |
2 | 230 | 0.0087 | 19 | c.439 others(36): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108771558 | G | GATATCTA others(12): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03453.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0157 a0001c0004t0003g0158 |
2 | 230 | 0.0087 | 19 | c.439 others(36): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108771618 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02074.hp1 NA18747.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 a0001c0001t0002g0064 a0001c0001t0002g0066 others(7): Show |
10 | 332 | 0.0301 | 19 | c.439 others(36): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
STXBP3_chr1_108741674_108814523 | 108771620 | C | CTATATAT others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01981.hp1 HG02004.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 others(4): Show |
7 | 189 | 0.0370 | 19 | c.439 others(36): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 120984632 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01123.hp2 HG02004.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0259 others(4): Show |
7 | 112 | 0.0625 | 19 | c.287 others(38): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121207300 | T | TTCTACAT others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00735.hp1 others(36): Show |
a0001a0004a0007 | a0001c0001a0001c0008a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0003g0251 others(36): Show |
39 | 288 | 0.1354 | 19 | c.956 others(36): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 10/26 | chr3 | TogoVar | |||||||
STXBP5L_chr3_120903205_121429761 | 121312446 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0042 a0001c0001t0001g0063 a0001c0001t0003g0255 |
3 | 56 | 0.0536 | 19 | c.211 others(38): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147338731 | A | AATATATA others(12): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0006a0001c0001t0013a0001c0001t0026others(1): Show | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | 13 | 0.9231 | 19 | c.214 others(36): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147338731 | A | AATATATA others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(43): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(321): Show |
324 | 325 | 0.9969 | 19 | c.214 others(36): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147338731 | A | AATATATA others(12): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02723.hp2 HG02970.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0024others(1): Show | a0001c0001t0003g0053 a0001c0001t0005g0038 a0001c0001t0005g0040 others(5): Show |
8 | 9 | 0.8889 | 19 | c.214 others(36): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147338731 | A | AATATATA others(12): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18982.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 a0001c0001t0001g0231 a0001c0001t0001g0238 |
3 | 4 | 0.7500 | 19 | c.214 others(36): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP6_chr14_24804454_25055147 | 24882378 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0158 | 1 | 9 | 0.1111 | 19 | c.155 others(38): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24976852 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0183 | 1 | 52 | 0.0192 | 19 | c.-32 others(36): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 25002359 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02451.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0029a0001c0001t0034others(3): Show | a0001c0001t0007g0139 a0001c0001t0007g0140 a0001c0001t0029g0142 others(5): Show |
8 | 150 | 0.0533 | 19 | c.-32 others(38): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 25002359 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03927.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0070 | a0001c0001t0024g0237 a0001c0001t0070g0138 |
2 | 144 | 0.0139 | 19 | c.-32 others(38): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76005872 | A | AGAGGAGG others(12): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 a0001c0001t0001g0240 |
2 | 351 | 0.0057 | 19 | c.454 others(34): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 5/8 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76017866 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01109.hp2 others(34): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(5): Show | a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0341 others(34): Show |
37 | 49 | 0.7551 | 19 | c.308 others(36): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 4/8 | chr7 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67547711 | C | CAATTTTC others(12): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01167.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0087 others(12): Show |
15 | 278 | 0.0540 | 19 | c.227 others(38): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SUCO_chr1_172528150_172616833 | 172603881 | G | GTACATTA others(12): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 2 | 338 | 0.0059 | 19 | c.326 others(38): Show |
SUCO | ENSG00000094975.15 | transcript | ENST00000263688.4 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SUGP2_chr19_18985893_19038517 | 19033006 | A | AACTTCAG others(12): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0026 | 1 | 300 | 0.0033 | 19 | c.-12 others(34): Show |
SUGP2 | ENSG00000064607.17 | transcript | ENST00000452918.7 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
SUGT1_chr13_52647836_52705909 | 52659814 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0084 | 1 | 110 | 0.0091 | 19 | c.328 others(34): Show |
SUGT1 | ENSG00000165416.15 | transcript | ENST00000310528.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47656887 | G | GTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG02818.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0342 a0001c0001t0001g0346 a0001c0001t0007g0004 |
3 | 135 | 0.0222 | 19 | c.*14 others(30): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 518 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47731194 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0323 | 1 | 362 | 0.0028 | 19 | c.415 others(36): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 3/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47754487 | T | TACCTCCT others(12): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00597.hp1 others(73): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0101 others(73): Show |
76 | 360 | 0.2111 | 19 | c.175 others(36): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47754487 | T | TGCCTCCT others(12): Show |
intron_variant | MODIFIER | HG03927.hp2 NA18946.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 a0001c0002t0001g0227 |
2 | 286 | 0.0070 | 19 | c.175 others(36): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULT2B1_chr19_48547172_48604423 | 48576359 | C | CTTTTCTT others(12): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03130.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0005t0001a0001c0006t0001 | a0001c0001t0001g0043 a0001c0001t0001g0074 a0001c0001t0001g0075 others(2): Show |
5 | 86 | 0.0581 | 19 | c.214 others(34): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SULT2B1_chr19_48547172_48604423 | 48576359 | C | CTTTTCTT others(12): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 82 | 0.0122 | 19 | c.214 others(34): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SULT2B1_chr19_48547172_48604423 | 48596436 | A | ACTGTGAC others(12): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02055.hp1 others(16): Show |
a0001a0006 | a0001c0001a0001c0006a0006c0017 | a0001c0001t0001a0001c0006t0001a0006c0017t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0055 others(16): Show |
19 | 374 | 0.0508 | 19 | c.646 others(34): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SULT2B1_chr19_48547172_48604423 | 48602704 | A | AAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 180 | 0.0056 | 19 | c.*32 others(30): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 3282 | chr19 | TogoVar | |||||||
SUMO2_chr17_75160586_75187959 | 75162278 | C | CTATATAT others(12): Show |
downstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 18 | 0.0556 | 19 | c.*60 others(30): Show |
SUMO2 | ENSG00000188612.12 | transcript | ENST00000420826.7 | protein_coding | 3307 | chr17 | TogoVar | |||||||
SUN1_chr7_827476_879934 | 876841 | C | CCGCCGCC others(12): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0240 | 1 | 416 | 0.0024 | 19 | c.*35 others(30): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 1908 | chr7 | TogoVar | |||||||
SUN5_chr20_32978775_33009433 | 33001519 | C | CTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 |
3 | 51 | 0.0588 | 19 | c.212 others(34): Show |
SUN5 | ENSG00000167098.12 | transcript | ENST00000356173.8 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
SUOX_chr12_55992276_56010525 | 55996003 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 214 | 0.0047 | 19 | c.-14 others(30): Show |
SUOX | ENSG00000139531.13 | transcript | ENST00000266971.8 | protein_coding | 1272 | chr12 | TogoVar | |||||||
SUOX_chr12_55992276_56010525 | 55996003 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 214 | 0.0047 | 19 | c.-14 others(30): Show |
SUOX | ENSG00000139531.13 | transcript | ENST00000266971.8 | protein_coding | 1272 | chr12 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 44928882 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00621.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0195 a0001c0001t0001g0209 |
3 | 108 | 0.0278 | 19 | c.912 others(36): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 10/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 44928882 | C | CAAAATAA others(12): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02809.hp2 HG02976.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0003 | a0001c0001t0003g0025 a0001c0001t0003g0030 a0001c0001t0003g0035 others(3): Show |
6 | 111 | 0.0541 | 19 | c.912 others(36): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 10/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 44928882 | C | CAAAATAA others(12): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 106 | 0.0094 | 19 | c.912 others(36): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 10/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45120417 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01261.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0168 a0001c0001t0004g0170 a0001c0001t0007g0173 others(1): Show |
4 | 8 | 0.5000 | 19 | c.102 others(38): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45158298 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0051 | 1 | 65 | 0.0154 | 19 | c.102 others(38): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45198733 | T | TTTTAATT others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(197): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0017 a0001c0001t0001g0060 a0001c0001t0001g0061 others(197): Show |
200 | 262 | 0.7634 | 19 | c.102 others(38): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT5H_chr19_39440582_39481670 | 39445081 | C | CAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 126 | 0.0079 | 19 | c.-64 others(28): Show |
SUPT5H | ENSG00000196235.14 | transcript | ENST00000432763.7 | protein_coding | 500 | chr19 | TogoVar | |||||||
SUPT6H_chr17_28657205_28707679 | 28663828 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0064 others(28): Show |
40 | 42 | 0.9524 | 19 | c.-32 others(36): Show |
SUPT6H | ENSG00000109111.15 | transcript | ENST00000314616.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SUSD1_chr9_112035783_112180297 | 112040425 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0043 a0001c0001t0003g0286 |
2 | 101 | 0.0198 | 19 | c.*10 others(30): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 357 | chr9 | TogoVar |