view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ECSIT_chr19_11500929_11534134 | 11530156 | G | GTAAATAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01071.hp2 others(96): Show |
a0001a0007a0008 | a0001c0001a0001c0006a0007c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0019others(85): Show | 99 | 312 | 0.3173 | 8 | c.-11 others(19): Show |
ECSIT | ENSG00000130159.15 | transcript | ENST00000270517.12 | protein_coding | 1023 | chr19 | TogoVar | |||||||
ECSIT_chr19_11500929_11534134 | 11532516 | A | AAGATAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00738.hp1 others(50): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(32): Show | 53 | 312 | 0.1699 | 8 | c.-34 others(19): Show |
ECSIT | ENSG00000130159.15 | transcript | ENST00000270517.12 | protein_coding | 3383 | chr19 | TogoVar | |||||||
ECSIT_chr19_11500929_11534134 | 11532552 | T | TAGACAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02148.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0002g0034others(5): Show | 8 | 312 | 0.0256 | 8 | c.-35 others(19): Show |
ECSIT | ENSG00000130159.15 | transcript | ENST00000270517.12 | protein_coding | 3419 | chr19 | TogoVar | |||||||
ECSIT_chr19_11500929_11534134 | 11532552 | T | TAGATAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG01952.hp1 HG02055.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0073others(13): Show | 16 | 312 | 0.0513 | 8 | c.-35 others(19): Show |
ECSIT | ENSG00000130159.15 | transcript | ENST00000270517.12 | protein_coding | 3419 | chr19 | TogoVar | |||||||
ECSIT_chr19_11500929_11534134 | 11533234 | T | TTTTATTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01099.hp2 others(8): Show |
a0001a0004a0006 | a0001c0001a0004c0004a0006c0009 | a0001c0001t0001a0004c0004t0001a0006c0009t0001 | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0083others(8): Show | 11 | 312 | 0.0353 | 8 | c.-41 others(19): Show |
ECSIT | ENSG00000130159.15 | transcript | ENST00000270517.12 | protein_coding | 4101 | chr19 | TogoVar | |||||||
ECT2L_chr6_138791087_138909070 | 138806511 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00741.hp2 others(57): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0018others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027others(57): Show | 60 | 326 | 0.1841 | 8 | c.-24 others(27): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138822554 | C | CATAAATA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00558.hp2 others(76): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(21): Show | a0001c0001t0001g0051a0001c0001t0001g0056a0001c0001t0001g0090others(76): Show | 79 | 326 | 0.2423 | 8 | c.179 others(25): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138834894 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02683.hp2 HG03942.hp2 others(3): Show |
a0001a0002a0013 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(2): Show | a0001c0001t0001g0199a0001c0001t0002g0201a0001c0003t0002g0185others(3): Show | 6 | 326 | 0.0184 | 8 | c.180 others(25): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138834935 | A | ACACACTC others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(19): Show |
a0001a0002a0012 | a0001c0001a0001c0003a0001c0033others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(6): Show | a0001c0001t0003g0137a0001c0001t0003g0291a0001c0001t0004g0136others(19): Show | 22 | 326 | 0.0675 | 8 | c.180 others(25): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138834935 | A | ACACTCTC others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01261.hp1 HG01515.hp2 others(14): Show |
a0001a0002a0023 | a0001c0001a0002c0002a0023c0036 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0067a0001c0001t0001g0088a0001c0001t0001g0306others(14): Show | 17 | 326 | 0.0522 | 8 | c.180 others(25): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138867074 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01496.hp1 HG01928.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0048a0001c0001t0002g0098a0001c0001t0002g0099others(7): Show | 10 | 326 | 0.0307 | 8 | c.147 others(26): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138873872 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01515.hp1 HG03927.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0050a0002c0002t0001g0175a0002c0002t0005g0290 | 3 | 326 | 0.0092 | 8 | c.157 others(27): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138878306 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02109.hp2 HG02615.hp1 others(7): Show |
a0001a0007a0016 | a0001c0001a0007c0010a0007c0014others(1): Show | a0001c0001t0009a0001c0001t0010a0007c0010t0010others(2): Show | a0001c0001t0009g0011a0001c0001t0009g0012a0001c0001t0009g0108others(7): Show | 10 | 326 | 0.0307 | 8 | c.166 others(27): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138890492 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01255.hp2 HG01934.hp1 others(19): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0010c0017others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(4): Show | a0001c0001t0001g0060a0001c0001t0001g0090a0001c0001t0001g0106others(19): Show | 22 | 326 | 0.0675 | 8 | c.241 others(27): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138899439 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02965.hp1 HG03130.hp1 others(3): Show |
a0001a0007a0011 | a0001c0003a0007c0014a0011c0016 | a0001c0003t0002a0007c0014t0005a0011c0016t0002 | a0001c0003t0002g0058a0001c0003t0002g0304a0007c0014t0005g0207others(3): Show | 6 | 326 | 0.0184 | 8 | c.241 others(27): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2_chr3_172745726_172826474 | 172758468 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00741.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0023others(17): Show | 29 | 318 | 0.0912 | 8 | c.487 others(23): Show |
ECT2 | ENSG00000114346.14 | transcript | ENST00000392692.8 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ECT2_chr3_172745726_172826474 | 172797018 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(31): Show |
a0001a0003a0008 | a0001c0001a0003c0004a0008c0012 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(2): Show | a0001c0001t0002g0026a0001c0001t0002g0131a0001c0001t0002g0144others(28): Show | 34 | 318 | 0.1069 | 8 | c.190 others(27): Show |
ECT2 | ENSG00000114346.14 | transcript | ENST00000392692.8 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EDA2R_chrX_66590637_66644078 | 66594236 | A | AGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01192.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0012others(24): Show | 29 | 222 | 0.1306 | 8 | c.*38 others(19): Show |
EDA2R | ENSG00000131080.15 | transcript | ENST00000374719.8 | protein_coding | 1400 | chrX | TogoVar | |||||||
EDA2R_chrX_66590637_66644078 | 66594268 | T | TGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0172a0002c0002t0003g0050 | 2 | 222 | 0.0090 | 8 | c.*38 others(19): Show |
EDA2R | ENSG00000131080.15 | transcript | ENST00000374719.8 | protein_coding | 1368 | chrX | TogoVar | |||||||
EDA2R_chrX_66590637_66644078 | 66610272 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00735.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0014a0002c0002t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0031a0001c0001t0001g0033others(14): Show | 20 | 222 | 0.0901 | 8 | c.88- others(23): Show |
EDA2R | ENSG00000131080.15 | transcript | ENST00000374719.8 | protein_coding | 2/6 | chrX | TogoVar | |||||||
EDARADD_chr1_236389286_236489930 | 236405822 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02040.hp2 HG03490.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0005others(1): Show | a0001c0001t0001g0147a0001c0001t0003g0127a0001c0004t0005g0134others(1): Show | 5 | 294 | 0.0170 | 8 | c.62- others(23): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236447170 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG03139.hp2 HG04115.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0112a0001c0001t0001g0153a0001c0001t0002g0051others(7): Show | 10 | 294 | 0.0340 | 8 | c.219 others(27): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236466438 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01192.hp2 HG01255.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0099a0001c0001t0001g0171a0001c0001t0001g0216others(15): Show | 18 | 294 | 0.0612 | 8 | c.220 others(25): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236476193 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01243.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0193a0001c0001t0002g0152a0001c0001t0005g0290others(11): Show | 14 | 294 | 0.0476 | 8 | c.266 others(25): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236478357 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03942.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0078a0001c0001t0013g0142a0001c0001t0013g0204 | 3 | 294 | 0.0102 | 8 | c.266 others(25): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236478359 | A | ATATGTGT others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02886.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0008a0002c0002t0014 | a0001c0001t0008g0003a0001c0001t0008g0046a0002c0002t0008g0285others(2): Show | 5 | 294 | 0.0170 | 8 | c.266 others(25): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236478359 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00738.hp1 HG01258.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0027others(3): Show | a0001c0001t0001g0048a0001c0001t0002g0051a0001c0001t0002g0055others(23): Show | 26 | 294 | 0.0884 | 8 | c.266 others(25): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236480096 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01175.hp2 HG01258.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0045a0001c0001t0001g0213a0001c0001t0002g0117others(10): Show | 13 | 294 | 0.0442 | 8 | c.266 others(25): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDAR_chr2_108889471_108994220 | 108979467 | T | TCTCTCAC others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01255.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0121a0002c0003t0001g0122 | 2 | 226 | 0.0089 | 8 | c.-19 others(25): Show |
EDAR | ENSG00000135960.10 | transcript | ENST00000258443.7 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
EDA_chrX_69611113_70044472 | 69635566 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00673.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0097a0001c0001t0001g0098a0001c0001t0001g0122others(26): Show | 29 | 226 | 0.1283 | 8 | c.396 others(27): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69655762 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 226 | 0.0044 | 8 | c.396 others(27): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69658212 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01433.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0198a0001c0001t0003g0114a0001c0001t0003g0115others(2): Show | 5 | 226 | 0.0221 | 8 | c.396 others(27): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69661303 | T | TTTGCTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(190): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(190): Show | 193 | 226 | 0.8540 | 8 | c.396 others(27): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
EDA_chrX_69611113_70044472 | 69664666 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02257.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(1): Show | a0001c0001t0001g0028a0001c0001t0001g0032a0001c0001t0001g0033others(6): Show | 9 | 226 | 0.0398 | 8 | c.396 others(27): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69674102 | C | CCTATCTA others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124a0001c0001t0001g0143 | 2 | 226 | 0.0089 | 8 | c.396 others(27): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69771043 | G | GTATTTAT others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02145.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0013 | a0001c0001t0001g0137a0001c0001t0001g0140a0001c0001t0004g0135others(5): Show | 8 | 226 | 0.0354 | 8 | c.396 others(29): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69782366 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 226 | 0.0044 | 8 | c.396 others(29): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69851157 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0097a0001c0001t0001g0201others(23): Show | 27 | 226 | 0.1195 | 8 | c.397 others(29): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69856254 | G | GGTGGGTG others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 226 | 0.0044 | 8 | c.397 others(29): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69856254 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01516.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0144a0001c0001t0002g0145others(3): Show | 6 | 226 | 0.0266 | 8 | c.397 others(29): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69888978 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02040.hp1 HG02135.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(7): Show | 10 | 226 | 0.0443 | 8 | c.397 others(27): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69888982 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 226 | 0.0089 | 8 | c.397 others(27): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69895395 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02698.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0202a0001c0001t0002g0217a0001c0001t0003g0210 | 3 | 226 | 0.0133 | 8 | c.397 others(27): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69896398 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG02896.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0178others(6): Show | 9 | 226 | 0.0398 | 8 | c.397 others(27): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69910350 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 226 | 0.0044 | 8 | c.397 others(27): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69910374 | A | AGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02559.hp2 NA18967.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0072a0001c0001t0002g0050a0001c0001t0002g0070others(1): Show | 4 | 226 | 0.0177 | 8 | c.397 others(27): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69910374 | A | AGAGTGTG others(1): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 226 | 0.0044 | 8 | c.397 others(27): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69929704 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG04228.hp1 NA18612.hp1 NA18747.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0084a0001c0001t0001g0092a0001c0001t0001g0102others(2): Show | 5 | 226 | 0.0221 | 8 | c.397 others(27): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69956271 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 226 | 0.0044 | 8 | c.397 others(23): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDC3_chr15_74625558_74701024 | 74656406 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02257.hp2 HG02559.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0034others(8): Show | 11 | 286 | 0.0385 | 8 | c.485 others(23): Show |
EDC3 | ENSG00000179151.13 | transcript | ENST00000315127.9 | protein_coding | 3/6 | chr15 | TogoVar |