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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCNN1D_chr1_1275436_1297025 | 1290117 | TCTGCTCC others(49): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG02523.hp2 |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0001a0006c0010t0007 | a0002c0002t0001g0080 a0006c0010t0007g0273 |
2 | 290 | 0.0069 | -56 | c.166 others(72): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCYL3_chr1_169844631_169898896 | 169850989 | TTTTTTTT others(49): Show |
T | 3_prime_UTR_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0010 | a0001c0010t0102 | a0001c0010t0102g0212 | 1 | 418 | 0.0024 | -56 | c.*26 others(67): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 13/13 | 2668 | chr1 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 213550 | CCACGACG others(49): Show |
C | upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 | 1 | 266 | 0.0038 | -56 | c.-48 others(67): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4769 | chr5 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 229795 | AGTTAACA others(49): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 266 | 0.0038 | -56 | c.771 others(73): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 229820 | TAGAGTTA others(49): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01168.hp2 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0020 a0002c0003t0004g0101 a0002c0003t0004g0102 others(2): Show |
6 | 266 | 0.0226 | -56 | c.771 others(72): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SEC23A_chr14_39026919_39108235 | 39094227 | TATATATA others(49): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(87): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0003a0004c0011others(4): Show | a0001c0001t0001a0001c0003t0001a0004c0011t0001others(4): Show | a0001c0001t0001g0119 a0001c0003t0001g0036 a0001c0003t0001g0037 others(87): Show |
90 | 366 | 0.2459 | -56 | c.222 others(72): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39094309 | CATATATA others(49): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01109.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0103 a0001c0001t0001g0127 a0001c0001t0001g0129 others(15): Show |
18 | 366 | 0.0492 | -56 | c.222 others(73): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84086471 | GTATTATT others(49): Show |
G | intron_variant | MODIFIER | HG02970.hp2 HG02976.hp2 HG03579.hp2 |
a0001 | a0001c0007a0001c0008 | a0001c0007t0001a0001c0008t0008a0001c0008t0013 | a0001c0007t0001g0081 a0001c0008t0008g0085 a0001c0008t0013g0084 |
3 | 276 | 0.0109 | -56 | c.453 others(75): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48056140 | ATATATAT others(49): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0151 | 1 | 394 | 0.0025 | -56 | c.140 others(75): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 13/17 | chr12 | TogoVar | |||||||
SENP3_chr17_7556919_7576969 | 7571856 | TATATATA others(49): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0150 | a0001c0001t0150g0006 | 1 | 446 | 0.0022 | -56 | c.*38 others(65): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 11/11 | 381 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEPHS1_chr10_13312428_13353293 | 13325909 | AAAAAAAA others(49): Show |
A | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 378 | 0.0027 | -56 | c.751 others(73): Show |
SEPHS1 | ENSG00000086475.15 | transcript | ENST00000327347.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
SEPTIN7_chr7_35796057_35912110 | 35838278 | TTCCTTCC others(49): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02895.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0038 others(4): Show |
7 | 346 | 0.0202 | -56 | c.169 others(73): Show |
SEPTIN7 | ENSG00000122545.22 | transcript | ENST00000350320.11 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SEPTIN7_chr7_35796057_35912110 | 35838294 | TTCCTTCC others(49): Show |
T | intron_variant | MODIFIER | NA18992.hp1 NA18992.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0001 | a0001c0001t0012g0228 a0001c0002t0001g0305 |
2 | 346 | 0.0058 | -56 | c.169 others(73): Show |
SEPTIN7 | ENSG00000122545.22 | transcript | ENST00000350320.11 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SERGEF_chr11_17783048_18018047 | 17896837 | TAAGGGAA others(49): Show |
T | intron_variant | MODIFIER | HG02809.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0097 |
2 | 226 | 0.0089 | -56 | c.101 others(77): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SGCA_chr17_50161005_50180928 | 50169074 | ACTTCTAT others(49): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | NA18968.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0078 | 1 | 416 | 0.0024 | -56 | c.585 others(66): Show |
p.Val others(13): Show |
SGCA | ENSG00000108823.17 | transcript | ENST00000262018.8 | protein_coding | 6/10 | 585/1164 | 195/387 | chr17 | TogoVar | ||||
SGCZ_chr8_14079845_15243431 | 14551514 | TATTATAT others(49): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03486.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0019a0001c0001t0048others(1): Show | a0001c0001t0016g0017 a0001c0001t0019g0028 a0001c0001t0048g0051 others(1): Show |
4 | 102 | 0.0392 | -56 | c.234 others(73): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 15097759 | TATGTGTT others(49): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0020 | a0001c0001t0014g0024 a0001c0001t0020g0025 |
2 | 102 | 0.0196 | -56 | c.39+ others(75): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124350701 | GATAATAT others(49): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02965.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0217 a0001c0001t0001g0242 a0001c0001t0003g0243 |
3 | 318 | 0.0094 | -56 | c.137 others(73): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH3BGR_chr21_39446970_39520504 | 39510373 | CACACACA others(49): Show |
C | intron_variant | MODIFIER | HG03688.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0243 | 1 | 302 | 0.0033 | -56 | c.436 others(73): Show |
SH3BGR | ENSG00000185437.16 | transcript | ENST00000333634.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 146064687 | AAAGAAAG others(49): Show |
A | downstream_gene_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 272 | 0.0037 | -56 | c.*19 others(67): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1396 | chr5 | TogoVar | |||||||
SH3TC1_chr4_8194290_8246103 | 8211315 | TTCTCCCC others(49): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0038 | 1 | 374 | 0.0027 | -56 | c.248 others(73): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHISA7_chr19_55423740_55448300 | 55444804 | CTGCCGAG others(49): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0122 | 1 | 372 | 0.0027 | -56 | c.-19 others(67): Show |
SHISA7 | ENSG00000187902.13 | transcript | ENST00000376325.10 | protein_coding | 1505 | chr19 | TogoVar | |||||||
SHISA9_chr16_12896598_13245416 | 12943308 | TGTGTGTG others(49): Show |
T | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0090 | 1 | 214 | 0.0047 | -56 | c.691 others(75): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12943310 | TGTGTGTG others(49): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00597.hp2 others(43): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0084 others(43): Show |
46 | 214 | 0.2150 | -56 | c.691 others(75): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISAL1_chr22_44238665_44317951 | 44249983 | AATTTAAC others(49): Show |
A | intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0267 | 1 | 380 | 0.0026 | -56 | c.600 others(71): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44254705 | TGAGGAAT others(49): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0005a0001c0001t0016a0001c0001t0024others(21): Show | a0001c0001t0005g0005 a0001c0001t0005g0093 a0001c0001t0005g0145 others(43): Show |
47 | 380 | 0.1237 | -56 | c.600 others(73): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50618277 | CCCCTTCC others(49): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0007 | a0007c0009 | a0007c0009t0046 | a0007c0009t0046g0082 | 1 | 175 | 0.0057 | -56 | c.295 others(75): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SIK2_chr11_111597449_111735855 | 111624753 | AAGGCTGG others(49): Show |
A | intron_variant | MODIFIER | HG02523.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0135 a0001c0001t0012g0035 |
2 | 198 | 0.0101 | -56 | c.316 others(73): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIM1_chr6_100380009_100469921 | 100412583 | GAAAGAAA others(49): Show |
G | intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0243 | 1 | 320 | 0.0031 | -56 | c.116 others(75): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412587 | GAAAGAAA others(49): Show |
G | intron_variant | MODIFIER | NA18978.hp1 | a0002 | a0002c0002 | a0002c0002t0028 | a0002c0002t0028g0103 | 1 | 320 | 0.0031 | -56 | c.116 others(75): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412595 | GAAAGAAA others(49): Show |
G | intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0194 | 1 | 320 | 0.0031 | -56 | c.116 others(75): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SLC10A6_chr4_86818468_86854384 | 86842786 | TTTTCTTT others(49): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00621.hp1 others(44): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0002a0001c0004t0002a0002c0002t0001others(3): Show | a0001c0001t0002g0281 a0001c0001t0002g0294 a0001c0001t0002g0295 others(44): Show |
47 | 350 | 0.1343 | -56 | c.377 others(73): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1046993 | AAGTGGGT others(49): Show |
A | downstream_gene_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0022 | a0002c0022t0016 | a0002c0022t0016g0065 | 1 | 118 | 0.0085 | -56 | c.*53 others(67): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 3390 | chr5 | TogoVar | |||||||
SLC16A3_chr17_82224042_82245086 | 82224196 | ACACCTGT others(49): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02647.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0002g0274 others(5): Show |
9 | 410 | 0.0220 | -56 | c.-49 others(67): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 4845 | chr17 | TogoVar | |||||||
SLC16A3_chr17_82224042_82245086 | 82224570 | TTGCAGTC others(49): Show |
T | upstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 410 | 0.0024 | -56 | c.-45 others(67): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 4471 | chr17 | TogoVar | |||||||
SLC17A6_chr11_22333381_22384503 | 22339110 | ATATATGT others(49): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp1 HG03540.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0009a0002c0004t0001 | a0001c0001t0001g0408 a0001c0001t0009g0407 a0002c0004t0001g0409 |
3 | 450 | 0.0067 | -56 | c.86+ others(69): Show |
SLC17A6 | ENSG00000091664.9 | transcript | ENST00000263160.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC22A31_chr16_89190761_89205537 | 89192839 | CTAACCCC others(49): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02145.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 428 | 0.0140 | -56 | c.*31 others(67): Show |
SLC22A31 | ENSG00000259803.8 | transcript | ENST00000682282.1 | protein_coding | 2921 | chr16 | TogoVar | |||||||
SLC24A3_chr20_19207642_19727926 | 19346190 | ATATATAT others(49): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02717.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0003t0002a0001c0004t0004 | a0001c0001t0002g0075 a0001c0003t0002g0077 a0001c0004t0004g0076 |
3 | 160 | 0.0188 | -56 | c.271 others(75): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC25A18_chr22_17558498_17595995 | 17595306 | ACAAGTGT others(49): Show |
A | downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 410 | 0.0024 | -56 | c.*50 others(67): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 4312 | chr22 | TogoVar | |||||||
SLC28A1_chr15_84879662_84950798 | 84889677 | TTTCCTTC others(49): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01884.hp1 HG02615.hp1 others(4): Show |
a0002a0005a0018others(1): Show | a0002c0005a0002c0009a0005c0006others(2): Show | a0002c0005t0001a0002c0009t0001a0005c0006t0001others(2): Show | a0002c0005t0001g0058 a0002c0005t0001g0337 a0002c0005t0001g0349 others(4): Show |
7 | 396 | 0.0177 | -56 | c.186 others(71): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC37A1_chr21_42508852_42586426 | 42570053 | CGGGCAGG others(49): Show |
C | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0286 | 1 | 356 | 0.0028 | -56 | c.142 others(75): Show |
SLC37A1 | ENSG00000160190.14 | transcript | ENST00000352133.3 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLC38A7_chr16_58660109_58689770 | 58674545 | GATTATAG others(49): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 392 | 0.0026 | -56 | c.883 others(73): Show |
SLC38A7 | ENSG00000103042.9 | transcript | ENST00000219320.9 | protein_coding | 8/11 | chr16 | TogoVar | |||||||
SLC38A8_chr16_84004667_84047795 | 84032945 | TGGGTGTG others(49): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01433.hp1 HG02258.hp1 others(13): Show |
a0002a0008a0009others(4): Show | a0002c0005a0002c0039a0008c0017others(5): Show | a0002c0005t0001a0002c0005t0002a0002c0005t0005others(7): Show | a0002c0005t0001g0153 a0002c0005t0001g0157 a0002c0005t0001g0158 others(13): Show |
16 | 448 | 0.0357 | -56 | c.530 others(71): Show |
SLC38A8 | ENSG00000166558.11 | transcript | ENST00000299709.8 | protein_coding | 4/10 | chr16 | TogoVar | |||||||
SLC43A3_chr11_57401954_57432121 | 57403458 | AGAAGAAG others(49): Show |
A | downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0033 a0002c0002t0002g0160 |
3 | 330 | 0.0091 | -56 | c.*42 others(67): Show |
SLC43A3 | ENSG00000134802.18 | transcript | ENST00000395124.6 | protein_coding | 3495 | chr11 | TogoVar | |||||||
SLC4A10_chr2_161619416_161990270 | 161637057 | GTATATAT others(49): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01081.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0044 others(20): Show |
23 | 118 | 0.1949 | -56 | c.48+ others(73): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC8A1_chr2_40092270_40457090 | 40254452 | GAAAACAT others(49): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01109.hp1 others(24): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0006 | a0001c0001t0004a0001c0001t0008a0001c0001t0013others(17): Show | a0001c0001t0004g0056 a0001c0001t0004g0153 a0001c0001t0004g0157 others(24): Show |
27 | 236 | 0.1144 | -56 | c.180 others(77): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SLC8A1_chr2_40092270_40457090 | 40254484 | CTCTCTTG others(49): Show |
C | intron_variant | MODIFIER | HG00558.hp1 NA18964.hp1 NA18995.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0143a0001c0001t0144 | a0001c0001t0002g0190 a0001c0001t0002g0222 a0001c0001t0002g0223 others(2): Show |
5 | 236 | 0.0212 | -56 | c.180 others(77): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SLCO4A1_chr20_62637503_62677293 | 62655183 | AGACCCTC others(49): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(103): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0010a0001c0013others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(83): Show |
106 | 432 | 0.2454 | -56 | c.-96 others(72): Show |
SLCO4A1 | ENSG00000101187.16 | transcript | ENST00000217159.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLCO4A1_chr20_62637503_62677293 | 62655309 | TGGGGGCG others(49): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(264): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0003a0001c0007others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0296 others(241): Show |
267 | 432 | 0.6181 | -56 | c.-96 others(72): Show |
SLCO4A1 | ENSG00000101187.16 | transcript | ENST00000217159.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44981528 | TGGATGGG others(49): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 334 | 0.0030 | -56 | c.*47 others(67): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 4556 | chr21 | TogoVar |