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 | 39618025 | CT | C | intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG00733.hp2 others(38): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0272a0001c0001t0001g0273a0001c0001t0001g0274others(29): Show | 41 | 340 | 0.1206 | -1 | c.939 others(8): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39621087 | CT | C | upstream_gene_variant | MODIFIER | HG01192.hp2 HG02040.hp2 HG02109.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0237others(8): Show | 13 | 340 | 0.0382 | -1 | c.-14 others(6): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 1285 | chr12 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94426848 | AT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(231): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0011others(223): Show | 234 | 362 | 0.6464 | -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 | 94428073 | TG | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0003g0006a0001c0001t0003g0007a0001c0001t0003g0008others(38): Show | 44 | 362 | 0.1216 | -1 | c.110 others(9): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94433813 | AT | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00609.hp2 others(92): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(91): Show | 95 | 362 | 0.2624 | -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 | 94434856 | CT | C | intron_variant | MODIFIER | NA18963.hp1 NA19007.hp1 NA19054.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0118a0001c0002t0002g0119a0001c0002t0002g0171others(1): Show | 4 | 362 | 0.0111 | -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 | 94441466 | AT | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00609.hp2 others(92): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(91): Show | 95 | 362 | 0.2624 | -1 | c.111 others(10): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94444331 | CA | C | intron_variant | MODIFIER | HG01168.hp2 HG02922.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0310a0001c0001t0001g0311a0001c0001t0003g0302others(3): Show | 6 | 362 | 0.0166 | -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 | 94453940 | CT | C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02280.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0293a0001c0001t0001g0294a0001c0001t0001g0295others(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 | 94455325 | AT | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(51): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0056a0001c0001t0001g0068a0001c0001t0003g0006others(47): Show | 54 | 362 | 0.1492 | -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 | 94456255 | AT | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0003g0007a0001c0001t0003g0008a0001c0001t0003g0201others(46): Show | 54 | 362 | 0.1492 | -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 | 94468891 | TA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(345): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(334): Show | 348 | 362 | 0.9613 | -1 | c.335 others(8): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94469491 | GT | G | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178a0001c0001t0001g0271a0001c0001t0001g0272others(5): Show | 8 | 362 | 0.0221 | -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 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(178): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(174): Show | 181 | 362 | 0.5000 | -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 | CA | C | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp2 HG03041.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0003g0192a0001c0001t0003g0339a0001c0001t0003g0347others(9): Show | 12 | 362 | 0.0332 | -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 | 94472454 | GT | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(215): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(211): Show | 218 | 362 | 0.6022 | -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 | 94477227 | CA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(208): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(202): Show | 211 | 362 | 0.5829 | -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 | 94488938 | TG | T | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02451.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262a0001c0001t0001g0263a0001c0001t0001g0264others(3): Show | 6 | 362 | 0.0166 | -1 | c.115 others(9): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 13/22 | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94496694 | GT | G | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00609.hp2 others(80): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(79): Show | 83 | 362 | 0.2293 | -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 | 94496769 | AT | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(223): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(219): Show | 226 | 362 | 0.6243 | -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 | 94498583 | AT | A | splice_region_variant others(1): Show |
LOW | HG02109.hp1 HG02717.hp1 HG02922.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0027 | a0001c0001t0001g0093a0001c0001t0006g0247a0001c0001t0006g0248others(11): Show | 14 | 362 | 0.0387 | -1 | c.138 others(7): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94498859 | GC | G | intron_variant | MODIFIER | HG02074.hp2 NA18951.hp1 NA18971.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0026 | a0001c0002t0002g0121a0001c0002t0002g0122a0001c0002t0002g0123others(2): Show | 5 | 362 | 0.0138 | -1 | c.153 others(8): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 18/22 | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94501265 | GA | G | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG02257.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0271a0001c0001t0001g0272a0001c0001t0001g0273others(8): Show | 11 | 362 | 0.0304 | -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 | 94502497 | GT | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(208): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(204): Show | 211 | 362 | 0.5829 | -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 | CT | C | intron_variant | MODIFIER | HG01175.hp1 HG01884.hp2 HG01891.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0262a0001c0001t0001g0263a0001c0001t0001g0264others(26): Show | 29 | 362 | 0.0801 | -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 | 94505371 | AT | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp2 others(197): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(193): Show | 200 | 362 | 0.5525 | -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 | 94514441 | GT | G | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 HG03704.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0003g0275a0001c0001t0003g0279a0001c0001t0003g0291others(4): Show | 7 | 362 | 0.0193 | -1 | c.184 others(9): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94518496 | TA | T | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp2 others(78): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0018a0001c0001t0024others(4): Show | a0001c0001t0002g0114a0001c0001t0018g0180a0001c0001t0024g0190others(75): Show | 81 | 362 | 0.2238 | -1 | c.*13 others(6): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 23/23 | 1385 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
ABCD4_chr14_74280269_74307934 | 74280354 | AC | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(100): Show |
a0002a0010a0011 | a0002c0002a0002c0012a0010c0014others(1): Show | a0002c0002t0001a0002c0002t0024a0002c0012t0001others(2): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0013others(52): Show | 103 | 384 | 0.2682 | -1 | c.*61 others(6): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 4914 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74280693 | TA | T | downstream_gene_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.*57 others(6): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 4575 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74282031 | GA | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(129): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0012a0001c0001t0001g0041a0001c0001t0001g0172others(72): Show | 132 | 384 | 0.3438 | -1 | c.*44 others(6): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3237 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74282651 | TA | T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01071.hp1 others(14): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0007 | a0001c0001t0001a0003c0003t0009a0003c0003t0011others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0024others(9): Show | 17 | 384 | 0.0443 | -1 | c.*38 others(6): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 2617 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74282944 | CA | C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02630.hp2 HG02818.hp2 others(4): Show |
a0003a0007 | a0003c0003a0007c0007 | a0003c0003t0009a0003c0003t0011a0007c0007t0011others(1): Show | a0003c0003t0009g0033a0003c0003t0009g0098a0003c0003t0009g0099others(3): Show | 7 | 384 | 0.0182 | -1 | c.*35 others(6): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 2324 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74283109 | CA | C | downstream_gene_variant | MODIFIER | HG01257.hp2 HG01943.hp2 HG03490.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0020a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0025a0001c0001t0001g0043a0001c0001t0002g0113others(5): Show | 8 | 384 | 0.0208 | -1 | c.*33 others(6): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 2159 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74287551 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00639.hp1 others(104): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0021a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0021others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0012others(51): Show | 107 | 384 | 0.2787 | -1 | c.163 others(9): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 17/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74287635 | TA | T | 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.163 others(9): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 17/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74289111 | CA | C | intron_variant | MODIFIER | HG00408.hp2 HG01081.hp2 HG01109.hp2 others(31): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0008a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0008t0001others(9): Show | a0001c0001t0001g0148a0001c0001t0001g0164a0001c0001t0001g0165others(23): Show | 34 | 384 | 0.0885 | -1 | c.145 others(9): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 14/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74290683 | CT | C | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG02135.hp2 others(19): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0008a0002c0009others(2): Show | a0001c0001t0001a0001c0008t0001a0002c0009t0012others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0094a0001c0001t0001g0135others(11): Show | 22 | 384 | 0.0573 | -1 | c.111 others(9): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 11/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74294057 | CT | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(137): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0015others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0165a0001c0001t0001g0168a0001c0001t0001g0180others(75): Show | 140 | 384 | 0.3646 | -1 | c.720 others(8): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 7/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74299116 | TA | T | intron_variant | MODIFIER | HG00408.hp2 HG02135.hp2 NA18953.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0094a0001c0001t0001g0135others(4): Show | 15 | 384 | 0.0391 | -1 | c.285 others(8): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74300063 | CA | C | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01169.hp1 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0164a0001c0001t0001g0165a0001c0001t0001g0199others(30): Show | 46 | 384 | 0.1198 | -1 | c.157 others(7): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 2/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74302598 | TC | T | intron_variant | MODIFIER | HG02630.hp2 HG02818.hp2 HG06807.hp2 |
a0003a0007 | a0003c0003a0007c0007 | a0003c0003t0011a0007c0007t0011a0007c0007t0023 | a0003c0003t0011g0156a0007c0007t0011g0049a0007c0007t0023g0048 | 3 | 384 | 0.0078 | -1 | c.38+ others(7): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 1/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74303843 | AT | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(173): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0004a0001c0015others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0041others(95): Show | 176 | 384 | 0.4583 | -1 | c.-93 others(5): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 910 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74305330 | CA | C | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01109.hp2 HG01168.hp2 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0009a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002a0001c0001t0002g0116a0001c0001t0003g0007others(9): Show | 14 | 384 | 0.0365 | -1 | c.-24 others(6): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 2397 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74306611 | GT | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01081.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0006a0001c0001t0002g0001a0001c0001t0002g0102others(13): Show | 17 | 384 | 0.0443 | -1 | c.-37 others(6): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3678 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74306769 | GT | G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG02965.hp2 NA18522.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(3): Show | a0001c0001t0001g0012a0001c0001t0002g0001a0001c0008t0001g0139others(3): Show | 6 | 384 | 0.0156 | -1 | c.-38 others(6): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3836 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74307137 | CT | C | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01517.hp1 HG01884.hp1 others(17): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0003a0005c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0012others(13): Show | 20 | 384 | 0.0521 | -1 | c.-42 others(6): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 4204 | chr14 | TogoVar | ||||||
ABCE1_chr4_145093311_145134524 | 145103766 | GT | G | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02055.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(1): Show | 8 | 260 | 0.0308 | -1 | c.-27 others(8): Show |
ABCE1 | ENSG00000164163.11 | transcript | ENST00000296577.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABCE1_chr4_145093311_145134524 | 145104262 | AT | A | intron_variant | MODIFIER | HG02559.hp1 HG02818.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0004 | a0001c0001t0001g0029a0001c0001t0001g0063a0001c0004t0004g0130others(1): Show | 5 | 260 | 0.0192 | -1 | c.-27 others(8): Show |
ABCE1 | ENSG00000164163.11 | transcript | ENST00000296577.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABCE1_chr4_145093311_145134524 | 145110084 | AT | A | splice_region_variant others(1): Show |
LOW | HG00558.hp1 HG00558.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009 | a0001c0001t0001g0026a0001c0001t0001g0034a0001c0001t0001g0037others(6): Show | 9 | 260 | 0.0346 | -1 | c.406 others(6): Show |
ABCE1 | ENSG00000164163.11 | transcript | ENST00000296577.9 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |