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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC39A8_chr4_102256666_102350482 | 102350124 | TATATATA others(29): Show |
T | upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0011 | a0001c0011t0006 | a0001c0011t0006g0082 | 1 | 263 | 0.0038 | -36 | c.-50 others(47): Show |
SLC39A8 | ENSG00000138821.14 | transcript | ENST00000356736.5 | protein_coding | 4643 | chr4 | TogoVar | |||||||
SLC39A8_chr4_102256666_102350482 | 102350132 | TATATATA others(29): Show |
T | upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 251 | 0.0040 | -36 | c.-50 others(47): Show |
SLC39A8 | ENSG00000138821.14 | transcript | ENST00000356736.5 | protein_coding | 4651 | chr4 | TogoVar | |||||||
SLC41A3_chr3_126001357_126089124 | 126002961 | ACTTCTCA others(29): Show |
A | downstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0112 | 1 | 368 | 0.0027 | -36 | c.*40 others(47): Show |
SLC41A3 | ENSG00000114544.17 | transcript | ENST00000360370.9 | protein_coding | 3395 | chr3 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75388394 | TAACTACA others(29): Show |
T | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0013 | 1 | 154 | 0.0065 | -36 | c.52+ others(51): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 3/23 | chr1 | TogoVar | |||||||
SLC45A3_chr1_205652851_205685509 | 205663089 | GGCCGACA others(29): Show |
G | disruptive_inframe_deletion | MODERATE | HG00558.hp1 HG00597.hp1 HG00733.hp1 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(4): Show | a0002c0002t0001g0007 a0002c0002t0001g0085 a0002c0002t0001g0166 others(18): Show |
28 | 402 | 0.0697 | -36 | c.666 others(43): Show |
p.Leu others(13): Show |
SLC45A3 | ENSG00000158715.6 | transcript | ENST00000367145.4 | protein_coding | 3/5 | 1047/3391 | 666/1662 | 222/553 | chr1 | TogoVar | |||
SLC45A4_chr8_141202174_141313288 | 141203230 | AGAGAGAG others(29): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0034 | 1 | 183 | 0.0055 | -36 | c.*83 others(47): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3943 | chr8 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141252579 | GTCTGTGA others(29): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00639.hp2 others(5): Show |
a0002 | a0002c0001a0002c0005 | a0002c0001t0001a0002c0001t0013a0002c0001t0030others(1): Show | a0002c0001t0001g0032 a0002c0001t0001g0042 a0002c0001t0001g0060 others(5): Show |
8 | 186 | 0.0430 | -36 | c.241 others(53): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141252856 | CCCGTGTC others(29): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0085 | 1 | 186 | 0.0054 | -36 | c.241 others(53): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141311457 | CGTGTGTG others(29): Show |
C | upstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0003 | a0001c0003t0043 | a0001c0003t0043g0162 | 1 | 186 | 0.0054 | -36 | c.-37 others(47): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3170 | chr8 | TogoVar | |||||||
SLC4A2_chr7_151054589_151081523 | 151061315 | CCCTCCTG others(29): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0076 | 1 | 404 | 0.0025 | -36 | c.-63 others(51): Show |
SLC4A2 | ENSG00000164889.15 | transcript | ENST00000413384.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SLC5A10_chr17_18947165_19027565 | 18959791 | GCCCGACT others(29): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01433.hp1 HG02055.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0006t0016others(4): Show | a0001c0001t0001g0169 a0001c0001t0001g0201 a0001c0001t0001g0203 others(12): Show |
15 | 352 | 0.0426 | -36 | c.348 others(51): Show |
SLC5A10 | ENSG00000154025.16 | transcript | ENST00000395645.4 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC5A1_chr22_32038261_32118029 | 32049162 | AATCTATA others(29): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01256.hp2 HG01517.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0110 a0001c0001t0001g0133 a0001c0001t0001g0134 others(4): Show |
7 | 41 | 0.1707 | -36 | c.136 others(51): Show |
SLC5A1 | ENSG00000100170.10 | transcript | ENST00000266088.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SLC5A4_chr22_32213464_32260347 | 32239562 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG02155.hp1 NA19055.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0031 a0001c0001t0001g0176 a0005c0009t0001g0108 others(1): Show |
4 | 299 | 0.0134 | -36 | c.478 others(51): Show |
SLC5A4 | ENSG00000100191.6 | transcript | ENST00000266086.6 | protein_coding | 5/14 | chr22 | TogoVar | |||||||
SLC5A8_chr12_101150493_101215238 | 101158574 | CTCTCTCT others(29): Show |
C | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0226 | 1 | 370 | 0.0027 | -36 | c.163 others(53): Show |
SLC5A8 | ENSG00000256870.3 | transcript | ENST00000536262.3 | protein_coding | 13/14 | chr12 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79919806 | TGAGGAGA others(29): Show |
T | intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0122 | 1 | 306 | 0.0033 | -36 | c.392 others(51): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79920114 | GGGGAGAG others(29): Show |
G | intron_variant | MODIFIER | HG03130.hp1 NA18969.hp2 NA18972.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0121 a0001c0001t0004g0123 a0001c0001t0004g0126 others(1): Show |
4 | 345 | 0.0116 | -36 | c.392 others(51): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79920228 | GAGGAGAG others(29): Show |
G | intron_variant | MODIFIER | HG01361.hp2 HG01934.hp2 HG01978.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009 | a0001c0001t0006g0008 a0001c0001t0006g0242 a0001c0001t0006g0245 others(2): Show |
6 | 332 | 0.0181 | -36 | c.392 others(51): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
SLC6A13_chr12_215622_267836 | 239093 | CACACGTG others(29): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 440 | 0.0023 | -36 | c.479 others(53): Show |
SLC6A13 | ENSG00000010379.16 | transcript | ENST00000343164.9 | protein_coding | 4/14 | chr12 | TogoVar | |||||||
SLC6A18_chr5_1220381_1251189 | 1229925 | AGGTGCAG others(29): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01099.hp1 others(15): Show |
a0001a0003a0004others(3): Show | a0001c0002a0003c0004a0004c0003others(6): Show | a0001c0002t0002a0003c0004t0001a0004c0003t0003others(6): Show | a0001c0002t0002g0099 a0001c0002t0002g0150 a0001c0002t0002g0151 others(14): Show |
18 | 454 | 0.0396 | -36 | c.161 others(53): Show |
SLC6A18 | ENSG00000164363.10 | transcript | ENST00000324642.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC6A18_chr5_1220381_1251189 | 1229961 | CGGTGCAG others(29): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01071.hp2 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0005a0002c0001others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0002others(4): Show | a0001c0002t0001g0282 a0001c0002t0002g0280 a0001c0005t0002g0287 others(24): Show |
30 | 452 | 0.0664 | -36 | c.161 others(53): Show |
SLC6A18 | ENSG00000164363.10 | transcript | ENST00000324642.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC6A18_chr5_1220381_1251189 | 1230187 | CACAGGCT others(29): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG03209.hp1 |
a0003a0006 | a0003c0004a0006c0021 | a0003c0004t0001a0006c0021t0004 | a0003c0004t0001g0100 a0006c0021t0004g0170 |
2 | 454 | 0.0044 | -36 | c.161 others(53): Show |
SLC6A18 | ENSG00000164363.10 | transcript | ENST00000324642.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC6A19_chr5_1196595_1230111 | 1229925 | AGGTGCAG others(29): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01099.hp1 others(15): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0003a0001c0001t0006a0001c0002t0001others(9): Show | a0001c0001t0003g0293 a0001c0001t0006g0027 a0001c0001t0006g0102 others(13): Show |
18 | 456 | 0.0395 | -36 | c.*80 others(47): Show |
SLC6A19 | ENSG00000174358.16 | transcript | ENST00000304460.11 | protein_coding | 4815 | chr5 | TogoVar | |||||||
SLC6A19_chr5_1196595_1230111 | 1229961 | CGGTGCAG others(29): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01069.hp1 HG01071.hp1 others(27): Show |
a0001a0002a0016 | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0002others(13): Show | a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 others(24): Show |
30 | 453 | 0.0662 | -36 | c.*80 others(47): Show |
SLC6A19 | ENSG00000174358.16 | transcript | ENST00000304460.11 | protein_coding | 4851 | chr5 | TogoVar | |||||||
SLC6A5_chr11_20594608_20664285 | 20600324 | AAAGAAGA others(29): Show |
A | intron_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001 | 1 | 326 | 0.0031 | -36 | c.3+6 others(47): Show |
SLC6A5 | ENSG00000165970.12 | transcript | ENST00000525748.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC7A1_chr13_29504414_29600688 | 29553911 | CTCTAAGT others(29): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03130.hp1 NA20300.hp1 |
a0002 | a0002c0007 | a0002c0007t0016 | a0002c0007t0016g0003 a0002c0007t0016g0196 |
3 | 328 | 0.0091 | -36 | c.-11 others(51): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
SLC7A7_chr14_22768222_22820435 | 22795377 | GCTTGCTT others(29): Show |
G | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0002 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0005t0002g0356 |
3 | 390 | 0.0077 | -36 | c.500 others(55): Show |
SLC7A7 | ENSG00000155465.21 | transcript | ENST00000674313.1 | protein_coding | 2/9 | chr14 | TogoVar | |||||||
SLC8A2_chr19_47423017_47476893 | 47452427 | AGAGAGAG others(29): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02922.hp2 HG02970.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0028 a0001c0001t0007g0025 a0001c0001t0007g0038 others(5): Show |
8 | 306 | 0.0261 | -36 | c.134 others(55): Show |
SLC8A2 | ENSG00000118160.14 | transcript | ENST00000236877.11 | protein_coding | 3/9 | chr19 | TogoVar | |||||||
SLC9A2_chr2_102614553_102716355 | 102632119 | TACATATA others(29): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG02818.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0002g0104 others(5): Show |
8 | 342 | 0.0234 | -36 | c.289 others(55): Show |
SLC9A2 | ENSG00000115616.3 | transcript | ENST00000233969.3 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC9A5_chr16_67243979_67277191 | 67268658 | TTATATAT others(29): Show |
T | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 77 | 0.0130 | -36 | c.221 others(55): Show |
SLC9A5 | ENSG00000135740.17 | transcript | ENST00000299798.16 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC9A8_chr20_49807828_49897242 | 49834352 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG02735.hp1 HG03492.hp1 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 a0001c0001t0001g0220 a0001c0001t0001g0268 |
3 | 354 | 0.0085 | -36 | c.290 others(53): Show |
SLC9A8 | ENSG00000197818.12 | transcript | ENST00000361573.3 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLCO4A1_chr20_62637503_62677293 | 62677104 | CAGAAAAT others(29): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 | a0008 | a0008c0031 | a0008c0031t0002 | a0008c0031t0002g0020 | 1 | 430 | 0.0023 | -36 | c.*52 others(47): Show |
SLCO4A1 | ENSG00000101187.16 | transcript | ENST00000217159.6 | protein_coding | 4812 | chr20 | TogoVar | |||||||
SLCO5A1_chr8_69662046_69839978 | 69762118 | TTTTCTTT others(29): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(18): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0024 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0007 a0001c0001t0001g0136 a0001c0001t0001g0191 others(18): Show |
21 | 52 | 0.4038 | -36 | c.908 others(51): Show |
SLCO5A1 | ENSG00000137571.11 | transcript | ENST00000260126.9 | protein_coding | 2/9 | chr8 | TogoVar | |||||||
SLF1_chr5_94613669_94702621 | 94688008 | GTAGATAT others(29): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00558.hp1 others(55): Show |
a0001a0007 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0015others(4): Show | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(51): Show |
58 | 362 | 0.1602 | -36 | c.212 others(53): Show |
SLF1 | ENSG00000133302.13 | transcript | ENST00000265140.10 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLFN12L_chr17_35459254_35542678 | 35471651 | TTTCTTTT others(29): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(234): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0020others(14): Show | a0001c0001t0008a0001c0001t0016a0001c0001t0038others(105): Show | a0001c0001t0008g0101 a0001c0001t0008g0102 a0001c0001t0008g0111 others(231): Show |
237 | 358 | 0.6620 | -36 | c.*32 others(47): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 5/5 | 3236 | chr17 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168736632 | CTGCCTGG others(29): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03209.hp2 NA19030.hp1 |
a0001a0013a0015 | a0001c0007a0013c0027a0015c0028 | a0001c0007t0001a0013c0027t0010a0015c0028t0006 | a0001c0007t0001g0095 a0013c0027t0010g0125 a0015c0028t0006g0014 |
3 | 123 | 0.0244 | -36 | c.227 others(57): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168755389 | ATTTCTTT others(29): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01167.hp1 others(24): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0005others(20): Show | a0001c0001t0001g0010 a0001c0001t0001g0090 a0001c0001t0003g0106 others(24): Show |
27 | 36 | 0.7500 | -36 | c.168 others(55): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 16/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168999404 | CCATAAGG others(29): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01993.hp2 others(1): Show |
a0001a0002 | a0001c0003a0001c0010a0001c0016others(1): Show | a0001c0003t0007a0001c0010t0008a0001c0016t0008others(1): Show | a0001c0003t0007g0098 a0001c0010t0008g0068 a0001c0016t0008g0080 others(1): Show |
4 | 132 | 0.0303 | -36 | c.414 others(57): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169015951 | CACACACA others(29): Show |
C | intron_variant | MODIFIER | HG03195.hp2 NA18957.hp1 NA19060.hp2 |
a0001a0002 | a0001c0006a0001c0007a0002c0002 | a0001c0006t0002a0001c0007t0014a0002c0002t0018 | a0001c0006t0002g0039 a0001c0007t0014g0055 a0002c0002t0018g0107 |
3 | 132 | 0.0227 | -36 | c.414 others(57): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLX4IP_chr20_10430305_10633030 | 10502580 | CCTACAAT others(29): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG02257.hp2 HG02280.hp1 others(6): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(4): Show | a0001c0001t0001g0025 a0001c0001t0008g0214 a0001c0001t0013g0090 others(6): Show |
9 | 264 | 0.0341 | -36 | c.27+ others(53): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLX4IP_chr20_10430305_10633030 | 10518470 | TTCTTTTC others(29): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01257.hp1 HG01258.hp1 others(8): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0012a0002c0002t0005a0002c0002t0032others(1): Show | a0001c0001t0012g0240 a0002c0002t0005g0032 a0002c0002t0005g0036 others(8): Show |
11 | 263 | 0.0418 | -36 | c.28- others(53): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SMAD2_chr18_47803957_47935659 | 47850545 | TATAATAT others(29): Show |
T | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0246 | a0001c0001t0246g0055 | 1 | 308 | 0.0032 | -36 | c.784 others(51): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
SMARCA4_chr19_10956030_11067273 | 10979463 | GCTCACTG others(29): Show |
G | intron_variant | MODIFIER | HG02280.hp2 NA18906.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0268 a0001c0008t0001g0269 |
2 | 284 | 0.0070 | -36 | c.-31 others(53): Show |
SMARCA4 | ENSG00000127616.22 | transcript | ENST00000344626.10 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SMC3_chr10_110562695_110611048 | 110607900 | GGTATAGT others(29): Show |
G | downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0211 | 1 | 326 | 0.0031 | -36 | c.*35 others(47): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 1853 | chr10 | TogoVar | |||||||
SMC6_chr2_17658812_17758810 | 17667287 | TACCATTT others(29): Show |
T | intron_variant | MODIFIER | HG00738.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0168 | 1 | 252 | 0.0040 | -36 | c.306 others(53): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | TogoVar | |||||||
SMG5_chr1_156244224_156287825 | 156277428 | TCTAATCC others(29): Show |
T | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0285 | 1 | 366 | 0.0027 | -36 | c.298 others(51): Show |
SMG5 | ENSG00000198952.8 | transcript | ENST00000361813.5 | protein_coding | 3/21 | chr1 | TogoVar | |||||||
SMIM10L1_chr12_11166194_11181016 | 11168271 | AGAAAGAA others(29): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01346.hp1 HG01891.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026a0001c0001t0033 | a0001c0001t0001g0000 a0001c0001t0026g0000 a0001c0001t0033g0000 |
17 | 389 | 0.0437 | -36 | c.-30 others(47): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2922 | chr12 | TogoVar | |||||||
SMIM10_chrX_134985991_134997473 | 134986686 | TCTTTCTT others(29): Show |
T | upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 318 | 0.0031 | -36 | c.-44 others(47): Show |
SMIM10 | ENSG00000184785.6 | transcript | ENST00000330288.6 | protein_coding | 4304 | chrX | TogoVar | |||||||
SMIM29_chr6_34241395_34254006 | 34250763 | ATGCCATT others(29): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01069.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0002g0009 a0001c0001t0002g0013 others(2): Show |
17 | 352 | 0.0483 | -36 | c.-18 others(47): Show |
SMIM29 | ENSG00000186577.14 | transcript | ENST00000476320.6 | protein_coding | 1758 | chr6 | TogoVar | |||||||
SMIM29_chr6_34241395_34254006 | 34253263 | AGATCGAA others(29): Show |
A | upstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | -36 | c.-43 others(47): Show |
SMIM29 | ENSG00000186577.14 | transcript | ENST00000476320.6 | protein_coding | 4258 | chr6 | TogoVar | |||||||
SMIM35_chr11_117998634_118091963 | 118048537 | AGAAGGAA others(29): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG01070.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0188 others(15): Show |
19 | 65 | 0.2923 | -36 | c.8-3 others(51): Show |
SMIM35 | ENSG00000255274.10 | transcript | ENST00000689828.1 | protein_coding | 1/4 | chr11 | TogoVar |