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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCD2_chr12_39545033_39624803 | 39561391 | C | CA | intron_variant | MODIFIER | HG00741.hp1 HG01192.hp2 HG01884.hp2 others(40): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0069a0001c0001t0001g0106a0001c0001t0001g0178others(31): Show | 43 | 340 | 0.1265 | 1 | c.200 others(10): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 9/9 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39563645 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00741.hp2 others(40): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0001t0006a0001c0001t0013others(3): Show | a0001c0001t0003g0004a0001c0001t0003g0006a0001c0001t0003g0009others(32): Show | 43 | 340 | 0.1265 | 1 | c.200 others(10): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 9/9 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39578473 | C | CA | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(26): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0009 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(4): Show | a0001c0001t0001g0012a0001c0001t0001g0067a0001c0001t0001g0102others(18): Show | 29 | 340 | 0.0853 | 1 | c.187 others(10): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 8/9 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39589384 | G | GT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00621.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0103a0001c0001t0001g0109a0001c0001t0001g0110others(30): Show | 34 | 340 | 0.1000 | 1 | c.164 others(10): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 6/9 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39590756 | A | AT | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp2 HG02055.hp2 others(7): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0157a0001c0001t0001g0185a0001c0001t0005g0092others(7): Show | 10 | 340 | 0.0294 | 1 | c.164 others(10): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 6/9 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39600192 | T | TA | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0007a0001c0007t0007 | a0001c0001t0007g0082a0001c0001t0007g0084a0001c0001t0007g0085others(1): Show | 4 | 340 | 0.0118 | 1 | c.164 others(18): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 6/9 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39607745 | G | GT | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00609.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0110a0001c0001t0001g0149a0001c0001t0001g0154others(12): Show | 15 | 340 | 0.0441 | 1 | c.112 others(8): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 2/9 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39613385 | C | CA | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00621.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(1): Show | a0001c0001t0001g0097a0001c0001t0001g0106a0001c0001t0001g0107others(20): Show | 23 | 340 | 0.0677 | 1 | c.112 others(10): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 2/9 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39614552 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00642.hp2 others(40): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0042a0001c0001t0003g0004a0001c0001t0003g0006others(32): Show | 43 | 340 | 0.1265 | 1 | c.112 others(10): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 2/9 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39621087 | C | CT | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00639.hp2 others(86): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0015others(83): Show | 89 | 340 | 0.2618 | 1 | c.-14 others(12): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 1285 | chr12 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94426547 | A | AT | intron_variant | MODIFIER | HG00621.hp1 HG02738.hp1 HG02895.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0023others(2): Show | a0001c0001t0001g0310a0001c0001t0001g0311a0001c0001t0003g0305others(6): Show | 9 | 362 | 0.0249 | 1 | c.110 others(9): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94428069 | G | GT | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01169.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0003g0244a0001c0001t0005g0005a0001c0001t0005g0224others(27): Show | 31 | 362 | 0.0856 | 1 | c.110 others(9): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94428762 | C | CT | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011 | a0001c0001t0008g0196a0001c0001t0008g0197a0001c0001t0008g0198others(3): Show | 6 | 362 | 0.0166 | 1 | c.110 others(10): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94432861 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(349): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(338): Show | 352 | 362 | 0.9724 | 1 | c.110 others(10): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94433155 | C | CT | intron_variant | MODIFIER | HG00544.hp2 HG01106.hp1 HG01884.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0086a0001c0001t0001g0087a0001c0001t0001g0104others(13): Show | 16 | 362 | 0.0442 | 1 | c.110 others(10): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94433628 | G | GT | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01891.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0041others(22): Show | 25 | 362 | 0.0691 | 1 | c.110 others(10): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94434976 | G | GT | intron_variant | MODIFIER | HG02647.hp2 HG03209.hp1 HG03540.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0019 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0041others(3): Show | 6 | 362 | 0.0166 | 1 | c.110 others(10): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94438779 | A | AT | intron_variant | MODIFIER | HG00544.hp2 NA18947.hp2 NA18985.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0041a0001c0001t0001g0046a0001c0001t0001g0055others(8): Show | 11 | 362 | 0.0304 | 1 | c.111 others(10): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94444331 | C | CA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(176): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(172): Show | 179 | 362 | 0.4945 | 1 | c.111 others(10): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94453323 | C | CT | intron_variant | MODIFIER | HG01975.hp1 HG02056.hp1 HG02129.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0020 | a0001c0001t0001g0058a0001c0001t0001g0264a0001c0001t0006g0170others(6): Show | 9 | 362 | 0.0249 | 1 | c.111 others(9): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94453940 | C | CT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp2 others(86): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(83): Show | 89 | 362 | 0.2459 | 1 | c.111 others(9): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94455325 | A | AT | intron_variant | MODIFIER | HG01496.hp2 HG03486.hp2 HG03834.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0082a0001c0001t0001g0329a0001c0001t0003g0348others(3): Show | 6 | 362 | 0.0166 | 1 | c.111 others(9): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94464323 | A | AT | intron_variant | MODIFIER | HG00621.hp1 HG02055.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0032 | a0001c0001t0001g0045a0001c0001t0001g0055a0001c0001t0001g0088others(3): Show | 6 | 362 | 0.0166 | 1 | c.148 others(8): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94466059 | C | CT | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0196a0001c0001t0008g0197a0001c0001t0008g0198others(2): Show | 5 | 362 | 0.0138 | 1 | c.246 others(9): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94469491 | G | GT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(130): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0003g0006others(124): Show | 133 | 362 | 0.3674 | 1 | c.335 others(9): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94469663 | C | CT | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01358.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0092a0001c0001t0003g0208a0001c0001t0003g0259others(7): Show | 10 | 362 | 0.0276 | 1 | c.335 others(9): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94471499 | C | CA | intron_variant | MODIFIER | HG03225.hp2 HG03486.hp2 HG04184.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0041a0001c0001t0001g0058a0001c0001t0001g0329others(3): Show | 6 | 362 | 0.0166 | 1 | c.336 others(9): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94474724 | G | GT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp2 others(81): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0002g0114others(78): Show | 84 | 362 | 0.2320 | 1 | c.406 others(8): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94476963 | A | AT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00609.hp1 others(94): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(93): Show | 97 | 362 | 0.2680 | 1 | c.627 others(9): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94477227 | C | CA | intron_variant | MODIFIER | HG02717.hp1 HG03098.hp2 HG03540.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0077a0001c0001t0001g0094a0001c0001t0001g0271others(4): Show | 7 | 362 | 0.0193 | 1 | c.628 others(9): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94477575 | C | CA | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp2 others(78): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0024a0001c0002t0001others(2): Show | a0001c0001t0014g0189a0001c0001t0014g0191a0001c0001t0024g0190others(75): Show | 81 | 362 | 0.2238 | 1 | c.628 others(8): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94484646 | G | GC | intron_variant | MODIFIER | HG00741.hp2 HG01981.hp1 HG01993.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0028a0001c0001t0001g0040a0001c0001t0003g0208others(13): Show | 16 | 362 | 0.0442 | 1 | c.897 others(9): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94492727 | T | TA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0006a0001c0001t0003g0007a0001c0001t0003g0008others(50): Show | 57 | 362 | 0.1575 | 1 | c.138 others(10): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94493949 | T | TG | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0002g0114a0001c0002t0001g0097a0001c0002t0002g0109others(8): Show | 11 | 362 | 0.0304 | 1 | c.138 others(10): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94496694 | G | GT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0045a0001c0001t0001g0069a0001c0001t0001g0089others(42): Show | 48 | 362 | 0.1326 | 1 | c.138 others(10): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94501265 | G | GA | intron_variant | MODIFIER | HG00642.hp2 HG01106.hp2 HG01109.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0031a0001c0001t0001g0104a0001c0001t0001g0262others(23): Show | 26 | 362 | 0.0718 | 1 | c.174 others(10): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94501875 | C | CT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp2 others(85): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(6): Show | a0001c0001t0002g0114a0001c0001t0004g0318a0001c0001t0008g0196others(82): Show | 88 | 362 | 0.2431 | 1 | c.174 others(10): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94503906 | C | CT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00609.hp2 others(103): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(102): Show | 106 | 362 | 0.2928 | 1 | c.174 others(10): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94507139 | C | CA | intron_variant | MODIFIER | HG02486.hp1 HG03490.hp1 NA18940.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0002 | a0001c0001t0014g0191a0001c0002t0002g0131a0001c0002t0002g0139 | 3 | 362 | 0.0083 | 1 | c.184 others(18): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 21/22 | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94518496 | T | TA | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00673.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0013others(5): Show | a0001c0001t0005g0005a0001c0001t0005g0221a0001c0001t0005g0222others(36): Show | 40 | 362 | 0.1105 | 1 | c.*13 others(6): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 23/23 | 1386 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
ABCD4_chr14_74280269_74307934 | 74280649 | C | CA | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02486.hp1 HG02630.hp2 others(3): Show |
a0003a0007 | a0003c0003a0007c0007 | a0003c0003t0011a0003c0003t0013a0003c0003t0017others(3): Show | a0003c0003t0011g0156a0003c0003t0013g0136a0003c0003t0017g0123others(3): Show | 6 | 384 | 0.0156 | 1 | c.*58 others(12): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 4619 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74282944 | C | CA | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00621.hp1 others(95): Show |
a0001a0002a0012 | a0001c0001a0001c0008a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0022a0001c0001t0001g0159others(50): Show | 98 | 384 | 0.2552 | 1 | c.*35 others(12): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 2324 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74284093 | G | GT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG02056.hp1 HG02683.hp1 others(7): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0014 | a0001c0001t0004a0002c0002t0001a0010c0014t0001 | a0001c0001t0004g0197a0002c0002t0001g0003a0002c0002t0001g0026others(5): Show | 10 | 384 | 0.0260 | 1 | c.*23 others(12): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 1175 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74285112 | A | AG | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01243.hp2 others(23): Show |
a0003a0004a0007 | a0003c0003a0004c0005a0007c0007 | a0003c0003t0005a0003c0003t0008a0003c0003t0009others(10): Show | a0003c0003t0005g0020a0003c0003t0005g0131a0003c0003t0005g0132others(17): Show | 26 | 384 | 0.0677 | 1 | c.*13 others(12): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 156 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74289111 | C | CA | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00741.hp1 others(12): Show |
a0001a0009 | a0001c0001a0009c0019 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0041a0001c0001t0001g0159a0001c0001t0001g0162others(11): Show | 15 | 384 | 0.0391 | 1 | c.145 others(9): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 14/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74289165 | T | TG | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01243.hp2 others(24): Show |
a0003a0004a0007 | a0003c0003a0004c0005a0007c0007 | a0003c0003t0005a0003c0003t0008a0003c0003t0009others(11): Show | a0003c0003t0005g0020a0003c0003t0005g0131a0003c0003t0005g0132others(18): Show | 27 | 384 | 0.0703 | 1 | c.145 others(9): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 14/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74290683 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(184): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0004a0001c0015others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0006a0001c0001t0001g0044a0001c0001t0001g0159others(87): Show | 187 | 384 | 0.4870 | 1 | c.111 others(9): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 11/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74292087 | C | CG | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01243.hp2 others(24): Show |
a0003a0004a0007 | a0003c0003a0004c0005a0007c0007 | a0003c0003t0005a0003c0003t0008a0003c0003t0009others(11): Show | a0003c0003t0005g0020a0003c0003t0005g0131a0003c0003t0005g0132others(18): Show | 27 | 384 | 0.0703 | 1 | c.111 others(9): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 11/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74294219 | A | AT | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01243.hp2 others(24): Show |
a0003a0004a0007 | a0003c0003a0004c0005a0007c0007 | a0003c0003t0005a0003c0003t0008a0003c0003t0009others(11): Show | a0003c0003t0005g0020a0003c0003t0005g0131a0003c0003t0005g0132others(18): Show | 27 | 384 | 0.0703 | 1 | c.719 others(8): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 7/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74300063 | C | CA | intron_variant | MODIFIER | HG01109.hp1 HG01433.hp1 HG01978.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0024a0001c0001t0001g0149a0001c0001t0001g0163others(6): Show | 12 | 384 | 0.0313 | 1 | c.157 others(7): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 2/18 | chr14 | TogoVar |