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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S1PR2_chr19_10216433_10236331 | 10232354 | ATGTGTG | A | upstream_gene_variant | MODIFIER | HG02622.hp1 HG02630.hp2 NA19062.hp1 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0025 | a0001c0002t0005g0035 a0001c0002t0025g0039 |
3 | 400 | 0.0075 | -6 | c.-11 others(17): Show |
S1PR2 | ENSG00000267534.4 | transcript | ENST00000646641.1 | protein_coding | 1024 | chr19 | TogoVar | |||||||
S1PR4_chr19_3173769_3185332 | 3180465 | AGTGTGT | A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(190): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0007others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(14): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0003t0001g0000 others(14): Show |
193 | 418 | 0.4617 | -6 | c.*51 others(15): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 134 | chr19 | TogoVar | |||||||
S1PR4_chr19_3173769_3185332 | 3180497 | TGTGTGG | T | downstream_gene_variant | MODIFIER | HG02818.hp1 HG02922.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 418 | 0.0072 | -6 | c.*55 others(15): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 166 | chr19 | TogoVar | |||||||
S1PR5_chr19_10507742_10522447 | 10510901 | GTTGTTA | G | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01361.hp1 HG01433.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0013 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0036 others(5): Show |
15 | 446 | 0.0336 | -6 | c.*29 others(17): Show |
S1PR5 | ENSG00000180739.15 | transcript | ENST00000333430.6 | protein_coding | 1840 | chr19 | TogoVar | |||||||
S1PR5_chr19_10507742_10522447 | 10516607 | CAAAAAA | C | intron_variant | MODIFIER | HG02258.hp2 HG02647.hp1 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 a0001c0001t0004g0109 |
6 | 446 | 0.0135 | -6 | c.-19 others(21): Show |
S1PR5 | ENSG00000180739.15 | transcript | ENST00000333430.6 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
SAC3D1_chr11_65036210_65049828 | 65043615 | CAAAAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00735.hp2 others(24): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0003 a0001c0003t0002g0040 |
27 | 352 | 0.0767 | -6 | c.575 others(21): Show |
SAC3D1 | ENSG00000168061.17 | transcript | ENST00000652489.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SACM1L_chr3_45684396_45750409 | 45748591 | AATATAT | A | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01891.hp2 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0015 | a0001c0003t0002g0021 a0001c0003t0002g0028 a0001c0003t0002g0044 others(5): Show |
10 | 354 | 0.0283 | -6 | c.*49 others(17): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 3183 | chr3 | TogoVar | |||||||
SACS_chr13_23323830_23438702 | 23381355 | GCACACA | G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00609.hp1 others(39): Show |
a0002a0003a0004others(3): Show | a0002c0001a0003c0005a0003c0012others(4): Show | a0002c0001t0004a0003c0005t0001a0003c0005t0004others(8): Show | a0002c0001t0004g0144 a0003c0005t0001g0004 a0003c0005t0001g0032 others(38): Show |
42 | 378 | 0.1111 | -6 | c.21- others(21): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 2/9 | chr13 | TogoVar | |||||||
SACS_chr13_23323830_23438702 | 23409040 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG01081.hp2 others(32): Show |
a0001a0002a0003others(6): Show | a0001c0003a0001c0006a0002c0001others(8): Show | a0001c0003t0001a0001c0006t0001a0002c0001t0001others(11): Show | a0001c0003t0001g0083 a0001c0006t0001g0236 a0002c0001t0001g0250 others(32): Show |
35 | 378 | 0.0926 | -6 | c.20+ others(21): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 2/9 | chr13 | TogoVar | |||||||
SACS_chr13_23323830_23438702 | 23429345 | ATTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01069.hp1 others(86): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0004others(20): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0009others(36): Show | a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0295 others(83): Show |
89 | 378 | 0.2355 | -6 | c.-50 others(25): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 1/9 | chr13 | TogoVar | |||||||
SACS_chr13_23323830_23438702 | 23432665 | TTTATTA | T | intron_variant | MODIFIER | HG02055.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0003a0001c0008a0001c0023 | a0001c0003t0001a0001c0008t0001a0001c0023t0003 | a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0008t0001g0033 others(1): Show |
4 | 378 | 0.0106 | -6 | c.-50 others(23): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 1/9 | chr13 | TogoVar | |||||||
SAE1_chr19_47125835_47215636 | 47182464 | AGTGTGT | A | intron_variant | MODIFIER | HG02809.hp2 HG02818.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0270 a0001c0001t0001g0271 others(3): Show |
6 | 380 | 0.0158 | -6 | c.733 others(25): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SAE1_chr19_47125835_47215636 | 47193845 | GAAAAGA | G | intron_variant | MODIFIER | HG00733.hp2 HG01243.hp2 HG01884.hp2 others(20): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0203 others(20): Show |
23 | 380 | 0.0605 | -6 | c.734 others(23): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SAE1_chr19_47125835_47215636 | 47196333 | CTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp1 others(65): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0037 others(65): Show |
68 | 380 | 0.1790 | -6 | c.734 others(21): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SAFB_chr19_5618083_5673478 | 5637104 | GGAGGCC | G | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 HG01243.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0216 others(2): Show |
5 | 282 | 0.0177 | -6 | c.275 others(23): Show |
SAFB | ENSG00000160633.13 | transcript | ENST00000588852.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SAGSIN1_chr7_6324411_6353967 | 6327728 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00741.hp2 HG01106.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0002g0133 a0001c0001t0002g0142 a0001c0001t0002g0155 others(49): Show |
52 | 420 | 0.1238 | -6 | c.*34 others(17): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 1682 | chr7 | TogoVar | |||||||
SAGSIN1_chr7_6324411_6353967 | 6343397 | CATATAT | C | intron_variant | MODIFIER | HG01109.hp1 HG01123.hp1 HG01168.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0289 a0001c0001t0001g0315 a0001c0001t0001g0317 others(32): Show |
35 | 420 | 0.0833 | -6 | c.186 others(23): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 1/1 | chr7 | TogoVar | |||||||
SAGSIN1_chr7_6324411_6353967 | 6347883 | TTTATTA | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(130): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(127): Show |
133 | 420 | 0.3167 | -6 | c.186 others(21): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 1/1 | chr7 | TogoVar | |||||||
SAGSIN1_chr7_6324411_6353967 | 6351230 | TTAATTA | T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(49): Show |
57 | 420 | 0.1357 | -6 | c.-24 others(17): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 2264 | chr7 | TogoVar | |||||||
SAGSIN1_chr7_6324411_6353967 | 6351232 | AATTATT | A | upstream_gene_variant | MODIFIER | HG01515.hp1 HG02055.hp1 HG02559.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0308 a0001c0001t0001g0317 a0001c0001t0002g0391 others(8): Show |
11 | 420 | 0.0262 | -6 | c.-24 others(17): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 2266 | chr7 | TogoVar | |||||||
SAG_chr2_233302816_233352055 | 233315191 | GTGGCTT | G | intron_variant | MODIFIER | HG01891.hp2 HG02818.hp2 HG02886.hp1 others(6): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0001 | a0001c0001t0001g0013 a0001c0001t0001g0068 a0001c0001t0001g0073 others(6): Show |
9 | 368 | 0.0245 | -6 | c.76- others(19): Show |
SAG | ENSG00000130561.17 | transcript | ENST00000409110.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SAG_chr2_233302816_233352055 | 233321986 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01071.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0201 a0001c0001t0001g0255 others(11): Show |
16 | 368 | 0.0435 | -6 | c.376 others(21): Show |
SAG | ENSG00000130561.17 | transcript | ENST00000409110.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SAG_chr2_233302816_233352055 | 233351788 | TTTATTA | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(265): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 others(261): Show |
268 | 368 | 0.7283 | -6 | c.*48 others(17): Show |
SAG | ENSG00000130561.17 | transcript | ENST00000409110.6 | protein_coding | 4734 | chr2 | TogoVar | |||||||
SALL1_chr16_51130982_51156270 | 51145217 | TACACAC | T | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG01891.hp1 others(16): Show |
a0001a0018 | a0001c0002a0001c0004a0001c0018others(1): Show | a0001c0002t0001a0001c0004t0001a0001c0018t0002others(1): Show | a0001c0002t0001g0017 a0001c0002t0001g0054 a0001c0002t0001g0087 others(7): Show |
19 | 374 | 0.0508 | -6 | c.77- others(21): Show |
SALL1 | ENSG00000103449.13 | transcript | ENST00000251020.9 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 944409 | CCTGGAA | C | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG01123.hp2 others(48): Show |
a0001a0002a0008others(3): Show | a0001c0001a0001c0002a0001c0021others(8): Show | a0001c0001t0014a0001c0002t0004a0001c0002t0020others(10): Show | a0001c0001t0014g0045 a0001c0001t0014g0080 a0001c0002t0004g0327 others(45): Show |
51 | 434 | 0.1175 | -6 | c.*26 others(15): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 14/14 | 261 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SAMD12_chr8_118372984_118626963 | 118415448 | GGTGTGT | G | intron_variant | MODIFIER | HG00639.hp2 HG02559.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 a0001c0001t0002g0153 a0001c0001t0002g0180 others(1): Show |
4 | 188 | 0.0213 | -6 | c.322 others(25): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118431687 | CGTGTGT | C | intron_variant | MODIFIER | HG01167.hp2 HG02922.hp2 HG02970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0002g0123 others(4): Show |
7 | 188 | 0.0372 | -6 | c.322 others(23): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118440657 | AACACAC | A | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG00741.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0018others(2): Show | a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0147 others(22): Show |
25 | 188 | 0.1330 | -6 | c.193 others(21): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118449812 | AAAAAAC | A | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0027 a0001c0001t0002g0151 a0001c0001t0002g0153 others(7): Show |
10 | 188 | 0.0532 | -6 | c.193 others(23): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118458950 | ATGTGTG | A | intron_variant | MODIFIER | HG01071.hp2 HG03098.hp2 HG04228.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0002 | a0001c0001t0003g0156 a0001c0001t0003g0167 a0001c0003t0002g0186 |
3 | 188 | 0.0160 | -6 | c.193 others(25): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118515185 | ATTTTTT | A | intron_variant | MODIFIER | HG00597.hp1 HG01071.hp1 HG01243.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0005 a0001c0001t0002g0041 a0001c0001t0002g0177 others(10): Show |
13 | 188 | 0.0692 | -6 | c.192 others(25): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118522173 | CACACAT | C | intron_variant | MODIFIER | HG02647.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 a0001c0001t0002g0183 |
2 | 188 | 0.0106 | -6 | c.192 others(25): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118536437 | TACACAA | T | intron_variant | MODIFIER | HG01071.hp1 HG02451.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0041 a0001c0001t0003g0182 a0001c0001t0006g0043 others(3): Show |
6 | 188 | 0.0319 | -6 | c.192 others(25): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118548384 | TACACAC | T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0013 a0001c0001t0002g0033 a0001c0001t0002g0059 others(40): Show |
43 | 188 | 0.2287 | -6 | c.192 others(25): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118584922 | TACACAC | T | intron_variant | MODIFIER | HG01361.hp1 HG02647.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0002t0008others(1): Show | a0001c0001t0002g0027 a0001c0001t0003g0006 a0001c0001t0003g0051 others(3): Show |
6 | 188 | 0.0319 | -6 | c.14- others(21): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
SAMD13_chr1_84296708_84355798 | 84302541 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01099.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 others(18): Show |
29 | 316 | 0.0918 | -6 | c.-32 others(21): Show |
SAMD13 | ENSG00000203943.9 | transcript | ENST00000394834.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD14_chr17_50105040_50135160 | 50124771 | GCACACA | G | intron_variant | MODIFIER | HG02970.hp1 HG03209.hp2 NA18941.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014a0001c0001t0047 | a0001c0001t0007g0246 a0001c0001t0014g0096 a0001c0001t0047g0287 |
3 | 398 | 0.0075 | -6 | c.43+ others(19): Show |
SAMD14 | ENSG00000167100.15 | transcript | ENST00000330175.9 | protein_coding | 2/9 | chr17 | TogoVar | |||||||
SAMD15_chr14_77372379_77397163 | 77372906 | TTATATA | T | upstream_gene_variant | MODIFIER | HG01081.hp2 HG03486.hp1 NA18990.hp1 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0002t0004a0002c0004t0004 | a0002c0002t0002g0135 a0002c0002t0004g0112 a0002c0004t0004g0017 |
3 | 314 | 0.0096 | -6 | c.-45 others(17): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 4472 | chr14 | TogoVar | |||||||
SAMD15_chr14_77372379_77397163 | 77388382 | CGTGTGT | C | intron_variant | MODIFIER | HG01993.hp1 HG02055.hp1 HG02132.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0011a0002c0002t0002others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0062 a0001c0001t0011g0055 others(5): Show |
11 | 314 | 0.0350 | -6 | c.178 others(25): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD3_chr6_130139315_130227951 | 130180287 | ATTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(234): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0004a0003c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(225): Show |
237 | 338 | 0.7012 | -6 | c.654 others(23): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130211276 | ATTTTTT | A | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02647.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0008 a0001c0001t0001g0260 a0001c0001t0001g0278 others(5): Show |
9 | 338 | 0.0266 | -6 | c.270 others(23): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 4/11 | chr6 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130224592 | TTTATTA | T | upstream_gene_variant | MODIFIER | HG02040.hp2 HG02818.hp1 NA19004.hp1 others(2): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0104 a0001c0001t0001g0229 a0001c0001t0001g0286 others(2): Show |
5 | 338 | 0.0148 | -6 | c.-19 others(17): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 1642 | chr6 | TogoVar | |||||||
SAMD4A_chr14_54562128_54798312 | 54568690 | CATATAT | C | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01069.hp2 others(63): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0074 others(63): Show |
66 | 262 | 0.2519 | -6 | c.196 others(21): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54576001 | CTTTTTT | C | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG00741.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(12): Show | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0032 others(23): Show |
26 | 262 | 0.0992 | -6 | c.196 others(23): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54602323 | TACACAC | T | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG01175.hp2 others(25): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0014others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0002g0148 a0001c0001t0002g0160 a0001c0001t0002g0182 others(25): Show |
28 | 262 | 0.1069 | -6 | c.196 others(25): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54623483 | CAAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp1 others(98): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0032 others(98): Show |
101 | 262 | 0.3855 | -6 | c.196 others(25): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54626015 | GGTGTGT | G | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01243.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(3): Show | a0001c0001t0001g0026 a0001c0001t0011g0170 a0001c0001t0013g0246 others(3): Show |
6 | 262 | 0.0229 | -6 | c.196 others(25): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54630908 | ATGTGTG | A | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00621.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0052 others(41): Show |
44 | 262 | 0.1679 | -6 | c.196 others(25): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54653301 | ATATTAT | A | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp2 HG01070.hp2 others(60): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0030 others(60): Show |
63 | 262 | 0.2405 | -6 | c.197 others(25): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54664810 | AACACAC | A | intron_variant | MODIFIER | HG02572.hp2 HG03225.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0009a0001c0001t0055a0001c0001t0077others(1): Show | a0001c0001t0009g0143 a0001c0001t0055g0056 a0001c0001t0077g0224 others(1): Show |
4 | 262 | 0.0153 | -6 | c.197 others(25): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |