| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABI1_chr10_26741596_26865958 | 26761659 | T | TAC | intron_variant | MODIFIER | HG03130.hp1 HG03579.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0159a0001c0001t0006g0351a0001c0001t0006g0353 | 3 | 358 | 0.0084 | 2 | c.821 others(19): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26761661 | T | TAC | intron_variant | MODIFIER | HG00673.hp2 HG02257.hp1 HG04204.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0112a0001c0001t0001g0116a0001c0001t0001g0120others(6): Show | 9 | 358 | 0.0251 | 2 | c.821 others(19): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26788912 | C | CAA | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01243.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0055a0001c0001t0001g0064a0001c0001t0001g0162others(28): Show | 31 | 358 | 0.0866 | 2 | c.286 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26791068 | C | CAA | intron_variant | MODIFIER | HG00408.hp1 HG01123.hp1 HG01346.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0042a0001c0001t0001g0060a0001c0001t0001g0061others(29): Show | 32 | 358 | 0.0894 | 2 | c.286 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26795141 | C | CAA | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01081.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0142others(24): Show | 27 | 358 | 0.0754 | 2 | c.286 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26814716 | C | CTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0013others(234): Show | 237 | 358 | 0.6620 | 2 | c.285 others(19): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26816986 | T | TTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(168): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0013a0001c0001t0001g0027a0001c0001t0001g0028others(168): Show | 171 | 358 | 0.4777 | 2 | c.285 others(19): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26818631 | C | CAA | intron_variant | MODIFIER | HG01243.hp2 HG01361.hp1 HG02056.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0003g0321a0001c0001t0003g0328a0001c0001t0003g0329others(24): Show | 27 | 358 | 0.0754 | 2 | c.285 others(19): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26821243 | T | TAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(285): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0013others(285): Show | 288 | 358 | 0.8045 | 2 | c.285 others(19): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26822161 | C | CAT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0105others(39): Show | 42 | 358 | 0.1173 | 2 | c.285 others(17): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26827596 | G | GTT | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp2 HG01106.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0048a0001c0001t0001g0072a0001c0001t0001g0132others(19): Show | 22 | 358 | 0.0615 | 2 | c.118 others(19): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26830624 | T | TAA | intron_variant | MODIFIER | HG01123.hp2 HG02015.hp2 NA18941.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0047a0001c0001t0003g0003a0001c0001t0003g0004others(6): Show | 9 | 358 | 0.0251 | 2 | c.118 others(19): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26833769 | T | TAC | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0105others(70): Show | 73 | 358 | 0.2039 | 2 | c.118 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26834548 | A | AAC | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01106.hp2 others(39): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0013a0001c0001t0001g0044a0001c0001t0001g0070others(39): Show | 42 | 358 | 0.1173 | 2 | c.118 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26835088 | C | CAA | intron_variant | MODIFIER | HG02027.hp1 HG02056.hp2 HG02523.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0133a0001c0001t0001g0160a0001c0001t0001g0235others(5): Show | 8 | 358 | 0.0224 | 2 | c.118 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26835099 | A | AAC | intron_variant | MODIFIER | HG00438.hp2 HG02015.hp1 HG02015.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0003a0001c0001t0003g0004a0001c0001t0003g0005others(35): Show | 38 | 358 | 0.1062 | 2 | c.118 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26835106 | A | AAC | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0105others(41): Show | 44 | 358 | 0.1229 | 2 | c.118 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26838028 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0001c0001t0007a0001c0001t0014others(1): Show | a0001c0001t0004g0075a0001c0001t0004g0079a0001c0001t0004g0080others(22): Show | 25 | 358 | 0.0698 | 2 | c.118 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26839663 | A | AAT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0001c0001t0007a0001c0001t0014others(1): Show | a0001c0001t0004g0075a0001c0001t0004g0077a0001c0001t0004g0078others(20): Show | 23 | 358 | 0.0643 | 2 | c.118 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26839666 | A | AAT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0105others(44): Show | 47 | 358 | 0.1313 | 2 | c.118 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26843453 | C | CAA | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00597.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0017 | a0001c0001t0002g0012a0001c0001t0002g0021a0001c0001t0002g0023others(24): Show | 27 | 358 | 0.0754 | 2 | c.117 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26845146 | T | TAA | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00639.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0105others(36): Show | 39 | 358 | 0.1089 | 2 | c.117 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26848200 | C | CAA | intron_variant | MODIFIER | HG00438.hp2 HG02135.hp1 HG02273.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013 | a0001c0001t0001g0014a0001c0001t0003g0011a0001c0001t0003g0285others(26): Show | 29 | 358 | 0.0810 | 2 | c.117 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26848605 | C | CTT | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02109.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0058a0001c0001t0001g0060a0001c0001t0001g0070others(8): Show | 11 | 358 | 0.0307 | 2 | c.117 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26851348 | A | ATT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0028a0001c0001t0001g0029others(83): Show | 86 | 358 | 0.2402 | 2 | c.117 others(19): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26853234 | C | CAA | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00639.hp1 others(57): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0103a0001c0001t0001g0105a0001c0001t0001g0106others(57): Show | 60 | 358 | 0.1676 | 2 | c.117 others(19): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26856433 | C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0028others(38): Show | 41 | 358 | 0.1145 | 2 | c.117 others(19): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26857320 | C | CAA | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0274a0001c0001t0002g0222a0001c0001t0002g0268others(3): Show | 6 | 358 | 0.0168 | 2 | c.117 others(19): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26857848 | C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(64): Show | 67 | 358 | 0.1872 | 2 | c.117 others(19): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26861108 | A | ATT | upstream_gene_variant | MODIFIER | HG01099.hp1 HG02622.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0347a0001c0001t0006g0348a0001c0001t0006g0349others(3): Show | 6 | 358 | 0.0168 | 2 | c.-24 others(11): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 151 | chr10 | TogoVar | ||||||
| ABI1_chr10_26741596_26865958 | 26865383 | T | TAA | upstream_gene_variant | MODIFIER | HG00738.hp2 HG03041.hp1 HG03471.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0128a0001c0001t0001g0133a0001c0001t0002g0150others(6): Show | 9 | 358 | 0.0251 | 2 | c.-45 others(13): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 4426 | chr10 | TogoVar | ||||||
| ABI2_chr2_203323394_203437169 | 203329341 | A | ATT | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG01175.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0306a0001c0001t0001g0307a0001c0001t0001g0308others(33): Show | 36 | 320 | 0.1125 | 2 | c.117 others(17): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABI2_chr2_203323394_203437169 | 203334668 | A | ATT | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01175.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0005 | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0284others(7): Show | 10 | 320 | 0.0313 | 2 | c.117 others(19): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABI2_chr2_203323394_203437169 | 203344562 | T | TTG | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0238a0001c0001t0002g0002a0001c0001t0002g0004others(88): Show | 91 | 320 | 0.2844 | 2 | c.117 others(21): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABI2_chr2_203323394_203437169 | 203350862 | T | TTG | intron_variant | MODIFIER | HG00738.hp2 HG01943.hp1 HG02293.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0140a0001c0001t0001g0241a0001c0001t0004g0121others(11): Show | 14 | 320 | 0.0438 | 2 | c.118 others(21): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABI2_chr2_203323394_203437169 | 203351532 | G | GTT | intron_variant | MODIFIER | HG00597.hp1 HG00733.hp1 HG00733.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0216a0001c0001t0001g0296a0001c0001t0001g0316others(10): Show | 13 | 320 | 0.0406 | 2 | c.118 others(21): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABI2_chr2_203323394_203437169 | 203355829 | C | CAA | intron_variant | MODIFIER | HG01109.hp1 HG01169.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0037 | a0001c0001t0006g0164a0001c0001t0006g0167a0001c0001t0006g0172others(4): Show | 7 | 320 | 0.0219 | 2 | c.118 others(21): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABI2_chr2_203323394_203437169 | 203358071 | T | TTG | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00597.hp2 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0224a0001c0001t0001g0250a0001c0001t0001g0254others(62): Show | 65 | 320 | 0.2031 | 2 | c.118 others(19): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABI2_chr2_203323394_203437169 | 203365622 | C | CTT | intron_variant | MODIFIER | HG01109.hp1 HG01168.hp1 HG02027.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0002g0002a0001c0001t0002g0009a0001c0001t0002g0017others(17): Show | 20 | 320 | 0.0625 | 2 | c.118 others(19): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABI2_chr2_203323394_203437169 | 203370186 | T | TTC | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01175.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0140a0001c0001t0001g0224a0001c0001t0002g0019others(20): Show | 23 | 320 | 0.0719 | 2 | c.285 others(19): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABI2_chr2_203323394_203437169 | 203374498 | C | CAA | intron_variant | MODIFIER | HG00738.hp2 HG01943.hp1 HG02055.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0012others(3): Show | a0001c0001t0004g0121a0001c0001t0004g0127a0001c0001t0004g0128others(10): Show | 13 | 320 | 0.0406 | 2 | c.286 others(19): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABI2_chr2_203323394_203437169 | 203376733 | C | CTT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(82): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(6): Show | a0001c0001t0001g0182a0001c0001t0001g0186a0001c0001t0001g0201others(82): Show | 85 | 320 | 0.2656 | 2 | c.286 others(19): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABI2_chr2_203323394_203437169 | 203385157 | C | CAG | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(186): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0181a0001c0001t0001g0182a0001c0001t0001g0186others(186): Show | 189 | 320 | 0.5906 | 2 | c.480 others(19): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABI2_chr2_203323394_203437169 | 203386430 | G | GTT | intron_variant | MODIFIER | HG02135.hp2 HG02809.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0224a0001c0001t0001g0292a0001c0001t0003g0191others(4): Show | 7 | 320 | 0.0219 | 2 | c.480 others(19): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABI2_chr2_203323394_203437169 | 203395432 | A | AAT | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG02040.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0224a0001c0001t0004g0137a0001c0001t0004g0146others(17): Show | 20 | 320 | 0.0625 | 2 | c.726 others(17): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABI2_chr2_203323394_203437169 | 203395446 | T | TAC | intron_variant | MODIFIER | HG01168.hp1 HG01175.hp2 NA18980.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0009a0001c0001t0002g0053a0001c0001t0002g0062others(2): Show | 5 | 320 | 0.0156 | 2 | c.726 others(17): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABI2_chr2_203323394_203437169 | 203395448 | T | TAC | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00673.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0005others(60): Show | 63 | 320 | 0.1969 | 2 | c.726 others(17): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABI2_chr2_203323394_203437169 | 203403645 | T | TTA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(187): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0181a0001c0001t0001g0182a0001c0001t0001g0186others(187): Show | 190 | 320 | 0.5938 | 2 | c.119 others(19): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABI2_chr2_203323394_203437169 | 203403742 | G | GTT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(119): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0181a0001c0001t0001g0182a0001c0001t0001g0186others(119): Show | 122 | 320 | 0.3813 | 2 | c.119 others(21): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABI2_chr2_203323394_203437169 | 203415616 | C | CAA | intron_variant | MODIFIER | HG01074.hp1 HG01358.hp1 HG02027.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0002a0001c0001t0003g0188a0001c0001t0003g0220others(5): Show | 8 | 320 | 0.0250 | 2 | c.128 others(21): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |