| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SLC8A2_chr19_47423017_47476893 | 47452427 | AGAGAGAG others(15): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03195.hp1 NA19002.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0003 | a0001c0001t0001g0085a0001c0009t0003g0109a0001c0009t0003g0111 | 3 | 316 | 0.0095 | -22 | c.134 others(41): Show |
SLC8A2 | ENSG00000118160.14 | transcript | ENST00000236877.11 | protein_coding | 3/9 | chr19 | TogoVar | ||||||
| SLC8A2_chr19_47423017_47476893 | 47452431 | AGAGAGAG others(15): Show |
A | intron_variant | MODIFIER | NA18939.hp2 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 316 | 0.0063 | -22 | c.134 others(41): Show |
SLC8A2 | ENSG00000118160.14 | transcript | ENST00000236877.11 | protein_coding | 3/9 | chr19 | TogoVar | ||||||
| SLC8B1_chr12_113293771_113340109 | 113302737 | GACAGAGC others(15): Show |
G | intron_variant | MODIFIER | NA18953.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0222 | 1 | 284 | 0.0035 | -22 | c.155 others(41): Show |
SLC8B1 | ENSG00000089060.12 | transcript | ENST00000680972.1 | protein_coding | 15/15 | chr12 | TogoVar | ||||||
| SLC8B1_chr12_113293771_113340109 | 113307110 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0201 | 1 | 284 | 0.0035 | -22 | c.141 others(39): Show |
SLC8B1 | ENSG00000089060.12 | transcript | ENST00000680972.1 | protein_coding | 13/15 | chr12 | TogoVar | ||||||
| SLC9A2_chr2_102614553_102716355 | 102695770 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(141): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0013others(140): Show | 144 | 344 | 0.4186 | -22 | c.158 others(39): Show |
SLC9A2 | ENSG00000115616.3 | transcript | ENST00000233969.3 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SLC9A5_chr16_67243979_67277191 | 67268658 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG02257.hp1 HG02698.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0154a0001c0001t0001g0155 | 5 | 204 | 0.0245 | -22 | c.221 others(41): Show |
SLC9A5 | ENSG00000135740.17 | transcript | ENST00000299798.16 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SLC9A6_chrX_135980435_136052269 | 136023163 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG02300.hp1 HG02451.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0091a0001c0001t0001g0164a0001c0001t0001g0186others(1): Show | 4 | 199 | 0.0201 | -22 | c.130 others(39): Show |
SLC9A6 | ENSG00000198689.13 | transcript | ENST00000630721.3 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| SLC9A7_chrX_46594251_46764118 | 46675061 | ATGTGTGT others(15): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0001g0202a0001c0001t0006g0025a0001c0001t0006g0059others(12): Show | 15 | 250 | 0.0600 | -22 | c.604 others(39): Show |
SLC9A7 | ENSG00000065923.10 | transcript | ENST00000616978.5 | protein_coding | 3/16 | chrX | TogoVar | ||||||
| SLC9A7_chrX_46594251_46764118 | 46738029 | AAAAAAGA others(15): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0004 | 1 | 250 | 0.0040 | -22 | c.325 others(41): Show |
SLC9A7 | ENSG00000065923.10 | transcript | ENST00000616978.5 | protein_coding | 1/16 | chrX | TogoVar | ||||||
| SLC9A8_chr20_49807828_49897242 | 49884252 | CACACACG others(15): Show |
C | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 360 | 0.0028 | -22 | c.149 others(39): Show |
SLC9A8 | ENSG00000197818.12 | transcript | ENST00000361573.3 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| SLC9B1_chr4_102895928_103024705 | 102950996 | AAGAAAAC others(15): Show |
A | intron_variant | MODIFIER | HG03195.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233a0001c0001t0001g0235 | 2 | 318 | 0.0063 | -22 | c.212 others(39): Show |
SLC9B1 | ENSG00000164037.17 | transcript | ENST00000296422.12 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
| SLC9C1_chr3_112135898_112299216 | 112150799 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02074.hp2 HG02080.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0054a0003c0003t0002g0173a0003c0003t0002g0174others(1): Show | 4 | 372 | 0.0108 | -22 | c.352 others(41): Show |
SLC9C1 | ENSG00000172139.15 | transcript | ENST00000305815.10 | protein_coding | 28/28 | chr3 | TogoVar | ||||||
| SLCO1A2_chr12_21259600_21339917 | 21276387 | GACACACA others(15): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01243.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0005a0001c0001t0007a0001c0001t0011others(11): Show | a0001c0001t0005g0113a0001c0001t0005g0114a0001c0001t0005g0115others(26): Show | 32 | 310 | 0.1032 | -22 | c.161 others(39): Show |
SLCO1A2 | ENSG00000084453.17 | transcript | ENST00000683939.1 | protein_coding | 12/14 | chr12 | TogoVar | ||||||
| SLCO1C1_chr12_20690332_20758386 | 20717648 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp2 HG02572.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0102a0001c0001t0001g0106others(7): Show | 10 | 296 | 0.0338 | -22 | c.775 others(37): Show |
SLCO1C1 | ENSG00000139155.9 | transcript | ENST00000266509.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| SLCO1C1_chr12_20690332_20758386 | 20724407 | GTGTGTAT others(15): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG02559.hp2 HG02572.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0014 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0160a0001c0001t0001g0161a0001c0001t0001g0176others(6): Show | 9 | 296 | 0.0304 | -22 | c.118 others(41): Show |
SLCO1C1 | ENSG00000139155.9 | transcript | ENST00000266509.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| SLCO5A1_chr8_69662046_69839978 | 69762178 | CTTTCTTT others(15): Show |
C | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0146 | 1 | 280 | 0.0036 | -22 | c.908 others(37): Show |
SLCO5A1 | ENSG00000137571.11 | transcript | ENST00000260126.9 | protein_coding | 2/9 | chr8 | TogoVar | ||||||
| SLF1_chr5_94613669_94702621 | 94627585 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0270 | 1 | 364 | 0.0028 | -22 | c.1-1 others(35): Show |
SLF1 | ENSG00000133302.13 | transcript | ENST00000265140.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| SLF1_chr5_94613669_94702621 | 94631956 | ATTTTTTT others(15): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01071.hp2 HG01975.hp2 others(25): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0001 | a0001c0001t0001g0316a0001c0001t0001g0317a0001c0001t0001g0318others(25): Show | 28 | 364 | 0.0769 | -22 | c.431 others(39): Show |
SLF1 | ENSG00000133302.13 | transcript | ENST00000265140.10 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| SLFN11_chr17_35345305_35378621 | 35378447 | GTATATAT others(15): Show |
G | upstream_gene_variant | MODIFIER | HG03491.hp2 NA18971.hp1 NA18979.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0002t0004a0001c0007t0001 | a0001c0002t0001g0210a0001c0002t0004g0211a0001c0007t0001g0036 | 3 | 466 | 0.0064 | -22 | c.-52 others(33): Show |
SLFN11 | ENSG00000172716.17 | transcript | ENST00000685675.1 | protein_coding | 4827 | chr17 | TogoVar | ||||||
| SLFN12L_chr17_35459254_35542678 | 35530419 | AAGGAAGG others(15): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG02027.hp1 HG02129.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0004 | a0001c0001t0004a0001c0001t0133a0001c0001t0134others(3): Show | a0001c0001t0004g0205a0001c0001t0133g0358a0001c0001t0134g0207others(7): Show | 10 | 360 | 0.0278 | -22 | c.-60 others(41): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| SLFN12L_chr17_35459254_35542678 | 35530421 | GGAAGGAA others(15): Show |
G | intron_variant | MODIFIER | NA18971.hp1 NA18992.hp2 NA19077.hp2 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0004a0001c0001t0012a0005c0006t0005 | a0001c0001t0004g0136a0001c0001t0012g0144a0005c0006t0005g0143 | 3 | 360 | 0.0083 | -22 | c.-60 others(41): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| SLIT2_chr4_20246905_20625561 | 20324262 | ATGTATTG others(15): Show |
A | intron_variant | MODIFIER | HG02698.hp1 HG03041.hp1 HG03540.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004a0001c0023 | a0001c0002t0001a0001c0002t0007a0001c0002t0075others(2): Show | a0001c0002t0001g0079a0001c0002t0007g0177a0001c0002t0075g0032others(2): Show | 5 | 230 | 0.0217 | -22 | c.395 others(41): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SLIT2_chr4_20246905_20625561 | 20463448 | GATATATA others(15): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00609.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0090a0001c0001t0002g0074others(35): Show | 38 | 230 | 0.1652 | -22 | c.396 others(39): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SLIT3_chr5_168656740_169306139 | 168703226 | TTGTGTGT others(15): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02922.hp1 HG03139.hp2 others(3): Show |
a0004a0008a0009others(1): Show | a0004c0025a0004c0036a0004c0039others(3): Show | a0004c0025t0006a0004c0036t0010a0004c0039t0006others(3): Show | a0004c0025t0006g0013a0004c0036t0010g0129a0004c0039t0006g0087others(3): Show | 6 | 132 | 0.0455 | -22 | c.284 others(41): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 26/35 | chr5 | TogoVar | ||||||
| SLIT3_chr5_168656740_169306139 | 168735661 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG02015.hp2 HG02135.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0022 | a0001c0001t0003g0099a0002c0002t0022g0038 | 2 | 132 | 0.0152 | -22 | c.227 others(43): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
| SLIT3_chr5_168656740_169306139 | 168994623 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01993.hp2 others(1): Show |
a0001a0002 | a0001c0003a0001c0010a0001c0016others(1): Show | a0001c0003t0007a0001c0010t0008a0001c0016t0008others(1): Show | a0001c0003t0007g0098a0001c0010t0008g0068a0001c0016t0008g0080others(1): Show | 4 | 132 | 0.0303 | -22 | c.414 others(43): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | ||||||
| SLIT3_chr5_168656740_169306139 | 168998893 | CTGTGTGT others(15): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01993.hp2 others(1): Show |
a0001a0002 | a0001c0003a0001c0010a0001c0016others(1): Show | a0001c0003t0007a0001c0010t0008a0001c0016t0008others(1): Show | a0001c0003t0007g0098a0001c0010t0008g0068a0001c0016t0008g0080others(1): Show | 4 | 132 | 0.0303 | -22 | c.414 others(43): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | ||||||
| SLIT3_chr5_168656740_169306139 | 169015931 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG03579.hp1 NA21309.hp1 |
a0002 | a0002c0002a0002c0005a0002c0044 | a0002c0002t0018a0002c0005t0003a0002c0044t0007 | a0002c0002t0018g0105a0002c0005t0003g0104a0002c0044t0007g0101 | 3 | 132 | 0.0227 | -22 | c.414 others(43): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | ||||||
| SLIT3_chr5_168656740_169306139 | 169142074 | AAAATAAA others(15): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0038 | a0001c0038t0011 | a0001c0038t0011g0066 | 1 | 132 | 0.0076 | -22 | c.413 others(41): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | ||||||
| SLIT3_chr5_168656740_169306139 | 169189527 | GATATATA others(15): Show |
G | intron_variant | MODIFIER | HG02015.hp2 HG02129.hp2 HG04115.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0020a0002c0002others(1): Show | a0001c0001t0001a0001c0020t0037a0002c0002t0022others(1): Show | a0001c0001t0001g0081a0001c0020t0037g0109a0002c0002t0022g0038others(1): Show | 4 | 132 | 0.0303 | -22 | c.413 others(39): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | ||||||
| SLITRK4_chrX_143617790_143641101 | 143640834 | CATATATA others(15): Show |
C | upstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 335 | 0.0030 | -22 | c.-51 others(33): Show |
SLITRK4 | ENSG00000179542.16 | transcript | ENST00000356928.2 | protein_coding | 4734 | chrX | TogoVar | ||||||
| SLMAP_chr3_57751309_57935003 | 57868935 | TTATATGT others(15): Show |
T | intron_variant | MODIFIER | HG01928.hp2 HG01943.hp1 HG01993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027a0001c0001t0002g0028a0001c0001t0002g0034others(1): Show | 4 | 310 | 0.0129 | -22 | c.123 others(41): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SLURP1_chr8_142735949_142747406 | 142744511 | GGGGATGA others(15): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG01109.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0007 | 36 | 402 | 0.0896 | -22 | c.-21 others(33): Show |
SLURP1 | ENSG00000126233.2 | transcript | ENST00000246515.2 | protein_coding | 2106 | chr8 | TogoVar | ||||||
| SLURP1_chr8_142735949_142747406 | 142744883 | TGGATGGG others(15): Show |
T | upstream_gene_variant | MODIFIER | HG03471.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 2 | 402 | 0.0050 | -22 | c.-25 others(33): Show |
SLURP1 | ENSG00000126233.2 | transcript | ENST00000246515.2 | protein_coding | 2478 | chr8 | TogoVar | ||||||
| SLX4IP_chr20_10430305_10633030 | 10503076 | GCATTGAT others(15): Show |
G | intron_variant | MODIFIER | NA18747.hp2 NA18977.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0023a0003c0003t0007 | a0001c0001t0023g0066a0003c0003t0007g0132 | 2 | 266 | 0.0075 | -22 | c.27+ others(39): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| SLX9_chr21_44935029_44981973 | 44974717 | TTGTGTTT others(15): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 334 | 0.0030 | -22 | c.569 others(39): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| SLX9_chr21_44935029_44981973 | 44978372 | AGCGCGTG others(15): Show |
A | downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 334 | 0.0030 | -22 | c.*15 others(33): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 1400 | chr21 | TogoVar | ||||||
| SLX9_chr21_44935029_44981973 | 44978464 | GGTGTGGG others(15): Show |
G | downstream_gene_variant | MODIFIER | HG01993.hp1 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0168 | 2 | 334 | 0.0060 | -22 | c.*16 others(33): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 1492 | chr21 | TogoVar | ||||||
| SLX9_chr21_44935029_44981973 | 44978672 | GCGTGTGG others(15): Show |
G | downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 334 | 0.0030 | -22 | c.*18 others(33): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 1700 | chr21 | TogoVar | ||||||
| SLX9_chr21_44935029_44981973 | 44978783 | CGTGTGGG others(15): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 334 | 0.0030 | -22 | c.*19 others(33): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 1811 | chr21 | TogoVar | ||||||
| SMAD1_chr4_145476853_145564176 | 145502956 | TCAGTGTC others(15): Show |
T | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 308 | 0.0033 | -22 | c.-17 others(43): Show |
SMAD1 | ENSG00000170365.10 | transcript | ENST00000302085.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SMAD2_chr18_47803957_47935659 | 47885132 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0127 | a0001c0001t0127g0271 | 1 | 310 | 0.0032 | -22 | c.236 others(41): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
| SMAD2_chr18_47803957_47935659 | 47919469 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0238 | 1 | 310 | 0.0032 | -22 | c.-54 others(41): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 1/10 | chr18 | TogoVar | ||||||
| SMAD5_chr5_136127845_136187733 | 136186361 | CCCTGAAA others(15): Show |
C | downstream_gene_variant | MODIFIER | HG01496.hp2 HG03225.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014 | a0001c0001t0013g0078a0001c0001t0014g0136a0001c0001t0014g0137 | 3 | 294 | 0.0102 | -22 | c.*88 others(33): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 3629 | chr5 | TogoVar | ||||||
| SMAD7_chr18_48914853_48955965 | 48949647 | TTCCCAGG others(15): Show |
T | intron_variant | MODIFIER | HG03041.hp1 NA18999.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0028 | a0001c0001t0001g0001a0001c0001t0001g0060a0001c0010t0028g0381 | 4 | 398 | 0.0101 | -22 | c.613 others(37): Show |
SMAD7 | ENSG00000101665.10 | transcript | ENST00000262158.8 | protein_coding | 1/3 | chr18 | TogoVar | ||||||
| SMAD9_chr13_36839831_36925238 | 36905774 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG02293.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0335a0001c0001t0002g0074a0001c0001t0002g0075others(2): Show | 5 | 358 | 0.0140 | -22 | c.-18 others(43): Show |
SMAD9 | ENSG00000120693.15 | transcript | ENST00000379826.5 | protein_coding | 1/6 | chr13 | TogoVar | ||||||
| SMAGP_chr12_51239558_51275415 | 51248428 | ACACACAC others(15): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG02258.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0028a0001c0002t0013 | a0001c0001t0003g0274a0001c0001t0003g0275a0001c0001t0028g0284others(4): Show | 7 | 410 | 0.0171 | -22 | c.35- others(37): Show |
SMAGP | ENSG00000170545.17 | transcript | ENST00000603798.6 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
| SMAP1_chr6_70662883_70867003 | 70725093 | GTTTTTTT others(15): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0046a0001c0001t0005g0005a0001c0001t0005g0006others(3): Show | 6 | 306 | 0.0196 | -22 | c.119 others(39): Show |
SMAP1 | ENSG00000112305.15 | transcript | ENST00000370455.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMARCA4_chr19_10956030_11067273 | 11061196 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01109.hp1 others(13): Show |
a0001 | a0001c0003a0001c0004a0001c0008others(2): Show | a0001c0003t0001a0001c0004t0001a0001c0008t0001others(2): Show | a0001c0003t0001g0203a0001c0003t0001g0206a0001c0003t0001g0209others(13): Show | 16 | 286 | 0.0559 | -22 | c.491 others(39): Show |
SMARCA4 | ENSG00000127616.22 | transcript | ENST00000344626.10 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| SMARCA4_chr19_10956030_11067273 | 11061198 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0138 | 1 | 286 | 0.0035 | -22 | c.491 others(39): Show |
SMARCA4 | ENSG00000127616.22 | transcript | ENST00000344626.10 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |