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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMAD2_chr18_47803957_47935659 | 47928623 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01074.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0136a0001c0001t0137others(5): Show | a0001c0001t0007g0097a0001c0001t0007g0101a0001c0001t0007g0102others(7): Show | 10 | 310 | 0.0323 | -1 | c.-54 others(9): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 1/10 | chr18 | TogoVar | ||||||
SMAD2_chr18_47803957_47935659 | 47934433 | GT | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(125): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(104): Show | a0001c0001t0001g0195a0001c0001t0001g0198a0001c0001t0001g0206others(125): Show | 128 | 310 | 0.4129 | -1 | c.-41 others(6): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 3775 | chr18 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67064412 | CT | C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01074.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0128a0001c0001t0001g0130a0001c0001t0001g0131others(40): Show | 43 | 310 | 0.1387 | -1 | c.-17 others(6): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1189 | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67070262 | GT | G | intron_variant | MODIFIER | HG02683.hp2 HG03491.hp2 HG03492.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0026a0001c0001t0053others(2): Show | a0001c0001t0001g0079a0001c0001t0026g0080a0001c0001t0026g0081others(3): Show | 6 | 310 | 0.0194 | -1 | c.206 others(9): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67072898 | CA | C | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01074.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0128a0001c0001t0001g0130a0001c0001t0001g0131others(23): Show | 26 | 310 | 0.0839 | -1 | c.206 others(9): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67078735 | CA | C | intron_variant | MODIFIER | HG02132.hp2 HG04228.hp2 NA18950.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0021others(2): Show | a0001c0001t0006g0048a0001c0001t0014g0162a0001c0001t0014g0164others(5): Show | 8 | 310 | 0.0258 | -1 | c.206 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67084070 | CT | C | intron_variant | MODIFIER | HG01358.hp1 HG01884.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0084a0001c0001t0001g0100a0001c0001t0003g0255others(3): Show | 6 | 310 | 0.0194 | -1 | c.206 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67086894 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(118): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0079a0001c0001t0001g0092a0001c0001t0001g0094others(117): Show | 121 | 310 | 0.3903 | -1 | c.206 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67094815 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(216): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0073a0001c0001t0001g0079a0001c0001t0001g0086others(215): Show | 219 | 310 | 0.7065 | -1 | c.206 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67095551 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(211): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0073a0001c0001t0001g0079a0001c0001t0001g0086others(210): Show | 214 | 310 | 0.6903 | -1 | c.206 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67099056 | GT | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(296): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0073a0001c0001t0001g0079a0001c0001t0001g0084others(295): Show | 299 | 310 | 0.9645 | -1 | c.206 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67108861 | GA | G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0225a0001c0001t0001g0226a0001c0001t0003g0308others(6): Show | 9 | 310 | 0.0290 | -1 | c.206 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67115251 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00609.hp2 others(93): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0079a0001c0001t0001g0089a0001c0001t0001g0111others(92): Show | 96 | 310 | 0.3097 | -1 | c.206 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67123188 | CA | C | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp2 HG01081.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0100a0001c0001t0001g0128a0001c0001t0001g0131others(43): Show | 46 | 310 | 0.1484 | -1 | c.207 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67124450 | GA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(202): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0073a0001c0001t0001g0092a0001c0001t0001g0094others(202): Show | 205 | 310 | 0.6613 | -1 | c.207 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67124524 | AT | A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG01069.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0100a0001c0001t0001g0128a0001c0001t0001g0131others(43): Show | 46 | 310 | 0.1484 | -1 | c.207 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67126599 | GT | G | intron_variant | MODIFIER | HG02165.hp2 HG03834.hp2 NA18612.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0002g0072a0001c0001t0002g0190a0001c0001t0003g0144others(6): Show | 9 | 310 | 0.0290 | -1 | c.207 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67128540 | AT | A | intron_variant | MODIFIER | HG02630.hp2 HG02717.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0010a0001c0002t0029 | a0001c0001t0003g0004a0001c0001t0003g0118a0001c0001t0003g0254others(3): Show | 6 | 310 | 0.0194 | -1 | c.207 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67136328 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(154): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0073a0001c0001t0001g0092a0001c0001t0001g0094others(154): Show | 157 | 310 | 0.5065 | -1 | c.207 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67139956 | TA | T | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG01069.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0100a0001c0001t0001g0128a0001c0001t0001g0131others(44): Show | 47 | 310 | 0.1516 | -1 | c.207 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67143968 | CT | C | intron_variant | MODIFIER | HG02630.hp2 HG02717.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0003g0004a0001c0001t0003g0118a0001c0001t0003g0254others(4): Show | 7 | 310 | 0.0226 | -1 | c.207 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67146499 | TC | T | intron_variant | MODIFIER | NA18945.hp1 NA18967.hp1 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0276a0001c0001t0002g0277a0001c0001t0003g0278 | 3 | 310 | 0.0097 | -1 | c.207 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67150798 | CT | C | intron_variant | MODIFIER | HG01891.hp2 HG02683.hp2 HG03098.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0028a0001c0001t0036others(4): Show | a0001c0001t0001g0168a0001c0001t0028g0289a0001c0001t0036g0054others(4): Show | 7 | 310 | 0.0226 | -1 | c.207 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67150819 | TA | T | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00639.hp2 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0084a0001c0001t0001g0086a0001c0001t0001g0088others(80): Show | 84 | 310 | 0.2710 | -1 | c.207 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67152366 | GA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(243): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0073a0001c0001t0001g0079a0001c0001t0001g0084others(242): Show | 246 | 310 | 0.7936 | -1 | c.207 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67155986 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(240): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0073a0001c0001t0001g0079a0001c0001t0001g0084others(239): Show | 243 | 310 | 0.7839 | -1 | c.207 others(9): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67163944 | TA | T | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp2 others(142): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0084a0001c0001t0001g0086a0001c0001t0001g0088others(141): Show | 145 | 310 | 0.4677 | -1 | c.207 others(8): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67169622 | AT | A | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00639.hp2 others(117): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0073a0001c0001t0001g0084a0001c0001t0001g0086others(116): Show | 120 | 310 | 0.3871 | -1 | c.608 others(8): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67171986 | GC | G | intron_variant | MODIFIER | HG00621.hp1 HG02027.hp1 NA18612.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0015 | a0001c0001t0013g0177a0001c0001t0013g0179a0001c0001t0013g0206others(1): Show | 4 | 310 | 0.0129 | -1 | c.658 others(9): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 5/8 | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67177725 | GT | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0100a0001c0001t0001g0150a0001c0001t0001g0205others(31): Show | 34 | 310 | 0.1097 | -1 | c.659 others(9): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67177733 | GT | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(161): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0073a0001c0001t0001g0084a0001c0001t0001g0086others(160): Show | 164 | 310 | 0.5290 | -1 | c.659 others(9): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67181789 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(216): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0073a0001c0001t0001g0079a0001c0001t0001g0084others(216): Show | 219 | 310 | 0.7065 | -1 | c.871 others(8): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67182986 | TA | T | intron_variant | MODIFIER | HG00642.hp2 HG01167.hp1 HG01168.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0073a0001c0001t0001g0148a0001c0001t0001g0150others(11): Show | 14 | 310 | 0.0452 | -1 | c.871 others(9): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67183024 | TA | T | intron_variant | MODIFIER | HG02602.hp1 HG03688.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0053 | a0001c0001t0001g0098a0001c0001t0005g0032a0001c0001t0053g0082 | 3 | 310 | 0.0097 | -1 | c.871 others(9): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67183026 | TA | T | intron_variant | MODIFIER | HG02040.hp1 HG02486.hp1 HG04199.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(1): Show | a0001c0001t0001g0112a0001c0001t0005g0018a0001c0001t0015g0047others(1): Show | 4 | 310 | 0.0129 | -1 | c.871 others(9): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67183028 | TA | T | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp2 HG01361.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(4): Show | a0001c0001t0001g0073a0001c0001t0001g0134a0001c0001t0001g0150others(15): Show | 18 | 310 | 0.0581 | -1 | c.871 others(9): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67183030 | TA | T | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01081.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0012others(1): Show | a0001c0001t0003g0268a0001c0001t0006g0046a0001c0001t0012g0025others(2): Show | 5 | 310 | 0.0161 | -1 | c.871 others(9): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67183031 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00558.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0225a0001c0001t0001g0226a0001c0001t0002g0173others(42): Show | 45 | 310 | 0.1452 | -1 | c.871 others(9): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67186307 | CA | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(80): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(7): Show | a0001c0001t0001g0073a0001c0001t0001g0084a0001c0001t0001g0086others(80): Show | 83 | 310 | 0.2677 | -1 | c.101 others(10): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 7/8 | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67188148 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(201): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0073a0001c0001t0001g0079a0001c0001t0001g0084others(201): Show | 204 | 310 | 0.6581 | -1 | c.115 others(9): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAD3_chr15_67060602_67200169 | 67196162 | CA | C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01168.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0012others(2): Show | a0001c0001t0004g0183a0001c0001t0004g0213a0001c0001t0004g0309others(7): Show | 10 | 310 | 0.0323 | -1 | c.*56 others(6): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 994 | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67196322 | AT | A | downstream_gene_variant | MODIFIER | HG02970.hp2 HG03195.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0007a0001c0001t0016g0003a0001c0001t0016g0285 | 3 | 310 | 0.0097 | -1 | c.*57 others(6): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1154 | chr15 | TogoVar | ||||||
SMAD4_chr18_51025213_51090042 | 51028051 | AC | A | upstream_gene_variant | MODIFIER | HG00558.hp2 HG01123.hp1 HG01175.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(10): Show | a0001c0001t0001g0006a0001c0001t0001g0039a0001c0001t0001g0042others(31): Show | 37 | 302 | 0.1225 | -1 | c.-26 others(6): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 2161 | chr18 | TogoVar | ||||||
SMAD4_chr18_51025213_51090042 | 51031737 | CA | C | intron_variant | MODIFIER | HG00609.hp2 HG02300.hp2 HG02602.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0114others(7): Show | 11 | 302 | 0.0364 | -1 | c.-12 others(10): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMAD4_chr18_51025213_51090042 | 51042600 | TG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(297): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(76): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(287): Show | 300 | 302 | 0.9934 | -1 | c.-12 others(10): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 1/11 | chr18 | TogoVar | ||||||
SMAD4_chr18_51025213_51090042 | 51049559 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(129): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(123): Show | 132 | 302 | 0.4371 | -1 | c.454 others(8): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMAD4_chr18_51025213_51090042 | 51051719 | TG | T | intron_variant | MODIFIER | HG01123.hp1 HG01978.hp1 HG02071.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0067 | a0001c0001t0011g0280a0001c0001t0011g0282a0001c0001t0011g0283others(6): Show | 9 | 302 | 0.0298 | -1 | c.454 others(9): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 4/11 | chr18 | TogoVar | ||||||
SMAD4_chr18_51025213_51090042 | 51056620 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(94): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(90): Show | 97 | 302 | 0.3212 | -1 | c.668 others(9): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMAD4_chr18_51025213_51090042 | 51058485 | AT | A | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0003g0128a0001c0001t0004g0214a0001c0001t0007g0188others(3): Show | 6 | 302 | 0.0199 | -1 | c.904 others(7): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMAD4_chr18_51025213_51090042 | 51064467 | GT | G | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0035a0001c0001t0071 | a0001c0001t0012g0016a0001c0001t0012g0017a0001c0001t0012g0018others(5): Show | 8 | 302 | 0.0265 | -1 | c.956 others(8): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |