regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC7A11_chr4_138159097_138247349 | 138237700 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG02015.hp2 NA18964.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0018a0002c0004t0092 | a0001c0001t0002g0058a0002c0004t0018g0056a0002c0004t0018g0057others(1): Show | 4 | 364 | 0.0110 | -28 | c.278 others(45): Show |
SLC7A11 | ENSG00000151012.13 | transcript | ENST00000280612.9 | protein_coding | 1/11 | chr4 | TogoVar | ||||||
SLC7A11_chr4_138159097_138247349 | 138237723 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0304 | 1 | 364 | 0.0028 | -28 | c.278 others(45): Show |
SLC7A11 | ENSG00000151012.13 | transcript | ENST00000280612.9 | protein_coding | 1/11 | chr4 | TogoVar | ||||||
SLC7A2_chr8_17492088_17575566 | 17533141 | GAGTATTT others(21): Show |
G | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 450 | 0.0022 | -28 | c.-22 others(47): Show |
SLC7A2 | ENSG00000003989.18 | transcript | ENST00000494857.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SLC7A5_chr16_87825023_87874507 | 87860373 | CACACACA others(21): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0058 | 1 | 390 | 0.0026 | -28 | c.538 others(45): Show |
SLC7A5 | ENSG00000103257.9 | transcript | ENST00000261622.5 | protein_coding | 1/9 | chr16 | TogoVar | ||||||
SLC8A2_chr19_47423017_47476893 | 47452423 | AGAGAGAG others(21): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0107 | 1 | 316 | 0.0032 | -28 | c.134 others(47): Show |
SLC8A2 | ENSG00000118160.14 | transcript | ENST00000236877.11 | protein_coding | 3/9 | chr19 | TogoVar | ||||||
SLC8B1_chr12_113293771_113340109 | 113324923 | TGAACTCC others(21): Show |
T | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 284 | 0.0035 | -28 | c.157 others(45): Show |
SLC8B1 | ENSG00000089060.12 | transcript | ENST00000680972.1 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
SLC9A2_chr2_102614553_102716355 | 102631995 | GATATATA others(21): Show |
G | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 344 | 0.0029 | -28 | c.289 others(47): Show |
SLC9A2 | ENSG00000115616.3 | transcript | ENST00000233969.3 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SLC9A3_chr5_465456_529449 | 528188 | TGGGTTGG others(21): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG01993.hp2 HG02300.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0017a0002c0002t0002a0002c0005t0016others(1): Show | a0001c0001t0017g0003a0002c0002t0002g0096a0002c0002t0002g0097others(3): Show | 6 | 218 | 0.0275 | -28 | c.-38 others(39): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 3740 | chr5 | TogoVar | ||||||
SLC9A5_chr16_67243979_67277191 | 67268658 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0055 | 1 | 204 | 0.0049 | -28 | c.221 others(47): Show |
SLC9A5 | ENSG00000135740.17 | transcript | ENST00000299798.16 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC9A7_chrX_46594251_46764118 | 46738031 | AAAAGAAA others(21): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG03486.hp1 NA19067.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0009a0001c0003t0012 | a0001c0001t0003g0186a0001c0001t0009g0002a0001c0003t0012g0197 | 3 | 250 | 0.0120 | -28 | c.325 others(47): Show |
SLC9A7 | ENSG00000065923.10 | transcript | ENST00000616978.5 | protein_coding | 1/16 | chrX | TogoVar | ||||||
SLC9A8_chr20_49807828_49897242 | 49834392 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 360 | 0.0028 | -28 | c.290 others(45): Show |
SLC9A8 | ENSG00000197818.12 | transcript | ENST00000361573.3 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SLC9A9_chr3_143260222_143853468 | 143743225 | GGATGGAT others(21): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0010 | 1 | 108 | 0.0093 | -28 | c.534 others(47): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 4/15 | chr3 | TogoVar | ||||||
SLC9A9_chr3_143260222_143853468 | 143844711 | CTCTTTCT others(21): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG04115.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0063a0001c0002t0003g0067 | 2 | 108 | 0.0185 | -28 | c.175 others(45): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
SLC9C1_chr3_112135898_112299216 | 112150769 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp2 others(56): Show |
a0001a0003a0008 | a0001c0002a0001c0013a0003c0003others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(5): Show | a0001c0002t0001g0003a0001c0002t0001g0024a0001c0002t0001g0025others(54): Show | 59 | 372 | 0.1586 | -28 | c.352 others(47): Show |
SLC9C1 | ENSG00000172139.15 | transcript | ENST00000305815.10 | protein_coding | 28/28 | chr3 | TogoVar | ||||||
SLCO1A2_chr12_21259600_21339917 | 21299772 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00597.hp2 others(93): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0012others(12): Show | a0001c0001t0002g0001a0001c0001t0002g0007a0001c0001t0002g0008others(85): Show | 96 | 310 | 0.3097 | -28 | c.910 others(43): Show |
SLCO1A2 | ENSG00000084453.17 | transcript | ENST00000683939.1 | protein_coding | 8/14 | chr12 | TogoVar | ||||||
SLCO3A1_chr15_91848708_92170903 | 92016234 | TAGATAGA others(21): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0106 | 1 | 190 | 0.0053 | -28 | c.647 others(47): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | chr15 | TogoVar | ||||||
SLCO5A1_chr8_69662046_69839978 | 69762118 | TTTTCTTT others(21): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00639.hp1 others(37): Show |
a0001a0002a0008 | a0001c0001a0001c0017a0001c0018others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(22): Show | a0001c0001t0001g0145a0001c0001t0001g0157a0001c0001t0001g0165others(37): Show | 40 | 280 | 0.1429 | -28 | c.908 others(43): Show |
SLCO5A1 | ENSG00000137571.11 | transcript | ENST00000260126.9 | protein_coding | 2/9 | chr8 | TogoVar | ||||||
SLCO5A1_chr8_69662046_69839978 | 69784887 | GAAGAAAG others(21): Show |
G | intron_variant | MODIFIER | NA18947.hp2 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0061 | a0001c0001t0024g0022a0001c0001t0061g0021 | 2 | 280 | 0.0071 | -28 | c.908 others(47): Show |
SLCO5A1 | ENSG00000137571.11 | transcript | ENST00000260126.9 | protein_coding | 2/9 | chr8 | TogoVar | ||||||
SLCO5A1_chr8_69662046_69839978 | 69784895 | GAAGAAAG others(21): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp1 HG02647.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0015a0002c0002t0066 | a0002c0002t0009g0121a0002c0002t0009g0122a0002c0002t0015g0124others(1): Show | 4 | 280 | 0.0143 | -28 | c.908 others(47): Show |
SLCO5A1 | ENSG00000137571.11 | transcript | ENST00000260126.9 | protein_coding | 2/9 | chr8 | TogoVar | ||||||
SLFN11_chr17_35345305_35378621 | 35378447 | GTATATAT others(21): Show |
G | upstream_gene_variant | MODIFIER | HG01346.hp1 HG02109.hp1 HG02148.hp2 others(1): Show |
a0001a0003a0004 | a0001c0002a0003c0005a0004c0006 | a0001c0002t0001a0003c0005t0015a0004c0006t0001 | a0001c0002t0001g0063a0003c0005t0015g0206a0004c0006t0001g0001 | 4 | 466 | 0.0086 | -28 | c.-52 others(39): Show |
SLFN11 | ENSG00000172716.17 | transcript | ENST00000685675.1 | protein_coding | 4827 | chr17 | TogoVar | ||||||
SLFN12L_chr17_35459254_35542678 | 35476454 | CAAGGAAG others(21): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01106.hp2 HG01123.hp1 others(16): Show |
a0001a0003 | a0001c0001a0003c0014 | a0001c0001t0008a0001c0001t0016a0001c0001t0055others(6): Show | a0001c0001t0008g0093a0001c0001t0008g0095a0001c0001t0008g0097others(16): Show | 19 | 360 | 0.0528 | -28 | c.127 others(45): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 4/4 | chr17 | TogoVar | ||||||
SLFN12L_chr17_35459254_35542678 | 35539332 | AAAAGAAA others(21): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0080others(14): Show | a0001c0001t0004g0115a0001c0001t0004g0116a0001c0001t0008g0093others(30): Show | 33 | 360 | 0.0917 | -28 | c.-23 others(39): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 1655 | chr17 | TogoVar | ||||||
SLFN14_chr17_35538985_35565819 | 35539332 | AAAAGAAA others(21): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00597.hp1 others(35): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0020a0001c0010t0002others(9): Show | a0001c0001t0002g0059a0001c0001t0020g0056a0001c0010t0002g0081others(14): Show | 38 | 428 | 0.0888 | -28 | c.*88 others(39): Show |
SLFN14 | ENSG00000236320.4 | transcript | ENST00000674182.1 | protein_coding | 4652 | chr17 | TogoVar | ||||||
SLIT1_chr10_96993038_97190959 | 97026829 | ATCATTAC others(21): Show |
A | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0065 | 1 | 256 | 0.0039 | -28 | c.258 others(47): Show |
SLIT1 | ENSG00000187122.17 | transcript | ENST00000266058.9 | protein_coding | 25/36 | chr10 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20291472 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02132.hp2 HG02647.hp2 |
a0001a0006 | a0001c0005a0006c0018 | a0001c0005t0033a0006c0018t0005 | a0001c0005t0033g0083a0006c0018t0005g0136 | 2 | 230 | 0.0087 | -28 | c.395 others(47): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SLIT2_chr4_20246905_20625561 | 20291478 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0003 | 1 | 230 | 0.0044 | -28 | c.395 others(47): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SLIT2_chr4_20246905_20625561 | 20291482 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0034 | 1 | 230 | 0.0044 | -28 | c.395 others(47): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SLIT2_chr4_20246905_20625561 | 20570712 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0016 | a0001c0016t0066 | a0001c0016t0066g0094 | 1 | 230 | 0.0044 | -28 | c.308 others(47): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SLIT3_chr5_168656740_169306139 | 168718677 | TACACACA others(21): Show |
T | intron_variant | MODIFIER | HG03927.hp2 NA19007.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0003 | a0001c0001t0001g0019a0001c0009t0003g0117 | 2 | 132 | 0.0152 | -28 | c.248 others(47): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 23/35 | chr5 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168755389 | ATTTCTTT others(21): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01433.hp1 HG01496.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0004others(13): Show | a0001c0001t0001g0006a0001c0001t0001g0018a0001c0001t0001g0019others(19): Show | 22 | 132 | 0.1667 | -28 | c.168 others(47): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 16/35 | chr5 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168926713 | CGAAGAAG others(21): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0004 | a0004c0025 | a0004c0025t0006 | a0004c0025t0006g0013 | 1 | 132 | 0.0076 | -28 | c.414 others(47): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168926716 | AGAAGACT others(21): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01993.hp2 HG02071.hp1 others(26): Show |
a0001a0002a0013 | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0004others(24): Show | a0001c0001t0001g0006a0001c0001t0001g0025a0001c0001t0001g0041others(26): Show | 29 | 132 | 0.2197 | -28 | c.414 others(47): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 169126914 | AGATCCAC others(21): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01496.hp1 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0025a0001c0003t0007a0001c0003t0016others(17): Show | a0001c0001t0025g0069a0001c0003t0007g0098a0001c0003t0016g0007others(18): Show | 21 | 132 | 0.1591 | -28 | c.413 others(47): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | ||||||
SLITRK4_chrX_143617790_143641101 | 143640834 | CATATATA others(21): Show |
C | upstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0163 | 1 | 335 | 0.0030 | -28 | c.-51 others(39): Show |
SLITRK4 | ENSG00000179542.16 | transcript | ENST00000356928.2 | protein_coding | 4734 | chrX | TogoVar | ||||||
SLITRK5_chr13_87666371_87684616 | 87679835 | AGTATATA others(21): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(73): Show | 187 | 404 | 0.4629 | -28 | c.*15 others(39): Show |
SLITRK5 | ENSG00000165300.8 | transcript | ENST00000683689.1 | protein_coding | 220 | chr13 | TogoVar | ||||||
SLX4IP_chr20_10430305_10633030 | 10518451 | CTTCCTTC others(21): Show |
C | intron_variant | MODIFIER | HG02056.hp2 HG02257.hp1 HG03834.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0008t0007 | a0001c0001t0002g0017a0001c0001t0002g0179a0001c0001t0003g0123others(1): Show | 4 | 266 | 0.0150 | -28 | c.28- others(45): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SLX4IP_chr20_10430305_10633030 | 10518462 | CCTTTCCT others(21): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0142 | 1 | 266 | 0.0038 | -28 | c.28- others(45): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | chr20 | TogoVar | ||||||
SLX4IP_chr20_10430305_10633030 | 10518490 | TTTCCTTC others(21): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02559.hp2 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010 | a0001c0001t0009g0070a0001c0001t0009g0183a0001c0001t0010g0101others(3): Show | 6 | 266 | 0.0226 | -28 | c.28- others(45): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SMAD2_chr18_47803957_47935659 | 47820896 | TACACACA others(21): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02647.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0171a0001c0001t0172 | a0001c0001t0171g0039a0001c0001t0172g0074 | 2 | 310 | 0.0065 | -28 | c.*20 others(41): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 11/11 | 20903 | chr18 | TogoVar | |||||
SMAD2_chr18_47803957_47935659 | 47850243 | ATATTATA others(21): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0245 | a0001c0001t0245g0007 | 1 | 310 | 0.0032 | -28 | c.784 others(45): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | ||||||
SMC5_chr9_70253978_70359873 | 70334037 | AGACATTG others(21): Show |
A | intron_variant | MODIFIER | NA18955.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0343 | 1 | 366 | 0.0027 | -28 | c.239 others(47): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 17/24 | chr9 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2661401 | ATGGGTTT others(21): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG02257.hp1 others(10): Show |
a0001a0009 | a0001c0005a0001c0007a0009c0022 | a0001c0005t0046a0001c0007t0004a0001c0007t0011others(3): Show | a0001c0005t0046g0159a0001c0007t0004g0238a0001c0007t0004g0239others(10): Show | 13 | 340 | 0.0382 | -28 | c.187 others(45): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2708867 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0013 | a0013c0021 | a0013c0021t0045 | a0013c0021t0045g0232 | 1 | 340 | 0.0029 | -28 | c.226 others(45): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 17/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCO1_chr3_196501879_196520346 | 196515988 | GATATATA others(21): Show |
G | upstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 398 | 0.0025 | -28 | c.-80 others(37): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 643 | chr3 | TogoVar | ||||||
SMCO4_chr11_93473472_93548391 | 93534213 | TATACACA others(21): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00558.hp2 others(105): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0117a0001c0001t0001g0160a0001c0001t0001g0161others(100): Show | 108 | 412 | 0.2621 | -28 | c.-15 others(47): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
SMCO4_chr11_93473472_93548391 | 93534215 | TACACACA others(21): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp2 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0007a0001c0001t0001g0076a0001c0001t0001g0077others(70): Show | 78 | 412 | 0.1893 | -28 | c.-15 others(47): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
SMG5_chr1_156244224_156287825 | 156282745 | TGCCGTCT others(21): Show |
T | 5_prime_UTR_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0033 | 1 | 368 | 0.0027 | -28 | c.-93 others(35): Show |
SMG5 | ENSG00000198952.8 | transcript | ENST00000361813.5 | protein_coding | 1/22 | 66 | chr1 | TogoVar | |||||
SMG6_chr17_2054843_2308785 | 2183745 | GACACACA others(21): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00597.hp2 others(93): Show |
a0002a0004a0006others(7): Show | a0002c0002a0002c0012a0002c0034others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(22): Show | a0002c0002t0001g0004a0002c0002t0001g0012a0002c0002t0001g0014others(93): Show | 96 | 278 | 0.3453 | -28 | c.315 others(47): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 12/18 | chr17 | TogoVar | ||||||
SMIM10L1_chr12_11166194_11181016 | 11168279 | AGAAAGAA others(21): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01361.hp2 HG02080.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0023a0001c0003t0001 | a0001c0001t0001g0000a0001c0001t0023g0000a0001c0003t0001g0000 | 7 | 397 | 0.0176 | -28 | c.-30 others(39): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2914 | chr12 | TogoVar | ||||||
SMIM10L1_chr12_11166194_11181016 | 11168368 | AAAAGAAA others(21): Show |
A | upstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 397 | 0.0025 | -28 | c.-29 others(39): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2825 | chr12 | TogoVar |