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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DSCAML1_chr11_117422772_117802216 | 117800700 | CTTTTGT | C | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02965.hp2 HG03540.hp2 others(2): Show |
a0001a0002 | a0001c0005a0002c0002a0002c0004others(2): Show | a0001c0005t0003a0002c0002t0001a0002c0004t0003others(2): Show | a0001c0005t0003g0046a0002c0002t0001g0047a0002c0004t0003g0002others(2): Show | 5 | 194 | 0.0258 | -6 | c.-36 others(17): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3485 | chr11 | TogoVar | ||||||
DSCC1_chr8_119828976_119860894 | 119847658 | CTTCTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0051a0001c0001t0001g0062a0001c0001t0001g0067others(4): Show | 8 | 378 | 0.0212 | -6 | c.487 others(21): Show |
DSCC1 | ENSG00000136982.6 | transcript | ENST00000313655.5 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
DSCC1_chr8_119828976_119860894 | 119853695 | AAAGGCC | A | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00738.hp2 others(56): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0076others(40): Show | 59 | 378 | 0.1561 | -6 | c.183 others(21): Show |
DSCC1 | ENSG00000136982.6 | transcript | ENST00000313655.5 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
DSCC1_chr8_119828976_119860894 | 119858600 | CATTATT | C | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01167.hp1 HG01891.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0041a0001c0001t0001g0051a0001c0001t0001g0205others(15): Show | 19 | 378 | 0.0503 | -6 | c.-28 others(17): Show |
DSCC1 | ENSG00000136982.6 | transcript | ENST00000313655.5 | protein_coding | 2707 | chr8 | TogoVar | ||||||
DSEL_chr18_67501587_67521720 | 67506148 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG02451.hp1 HG03130.hp1 HG03225.hp1 others(3): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0015a0001c0003t0072a0001c0003t0075others(1): Show | a0001c0003t0015g0019a0001c0003t0072g0088a0001c0003t0075g0089others(1): Show | 6 | 421 | 0.0143 | -6 | c.*48 others(17): Show |
DSEL | ENSG00000171451.15 | transcript | ENST00000310045.9 | protein_coding | 438 | chr18 | TogoVar | ||||||
DSE_chr6_116365947_116449861 | 116416349 | CTGTGTG | C | intron_variant | MODIFIER | HG00140.hp1 HG01074.hp1 HG02630.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0007a0002c0002t0001 | a0001c0001t0003g0224a0001c0001t0007g0251a0002c0002t0001g0045 | 3 | 366 | 0.0082 | -6 | c.417 others(25): Show |
DSE | ENSG00000111817.19 | transcript | ENST00000644252.3 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DSG2_chr18_31493177_31554008 | 31530915 | CATGTAT | C | intron_variant | MODIFIER | HG02922.hp1 HG03209.hp1 HG03225.hp1 others(1): Show |
a0001a0006 | a0001c0006a0006c0013 | a0001c0006t0006a0006c0013t0012a0006c0013t0022 | a0001c0006t0006g0251a0006c0013t0012g0029a0006c0013t0022g0263 | 4 | 354 | 0.0113 | -6 | c.101 others(21): Show |
DSG2 | ENSG00000046604.14 | transcript | ENST00000261590.13 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DSPP_chr4_87603529_87621873 | 87605101 | GTTTTTT | G | upstream_gene_variant | MODIFIER | HG00544.hp1 HG02074.hp2 HG02083.hp2 others(6): Show |
a0004a0005a0017 | a0004c0005a0005c0004a0017c0021 | a0004c0005t0001a0005c0004t0002a0017c0021t0002 | a0004c0005t0001g0005a0004c0005t0001g0007a0004c0005t0001g0060others(3): Show | 9 | 450 | 0.0200 | -6 | c.-35 others(17): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 3427 | chr4 | TogoVar | ||||||
DSPP_chr4_87603529_87621873 | 87612011 | TTGTGTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00558.hp2 others(71): Show |
a0002a0004a0009others(7): Show | a0002c0002a0002c0043a0004c0005others(8): Show | a0002c0002t0001a0002c0043t0001a0004c0005t0001others(8): Show | a0002c0002t0001g0003a0002c0002t0001g0006a0002c0002t0001g0028others(17): Show | 74 | 450 | 0.1644 | -6 | c.52- others(17): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DSPP_chr4_87603529_87621873 | 87614693 | CAGCAGT | C | conservative_inframe_deletion | MODERATE | HG02630.hp1 HG02723.hp2 HG02965.hp2 others(3): Show |
a0019a0031 | a0019c0024a0031c0038 | a0019c0024t0001a0031c0038t0001 | a0019c0024t0001g0016a0019c0024t0001g0017a0019c0024t0001g0036others(1): Show | 6 | 450 | 0.0133 | -6 | c.203 others(15): Show |
p.Ser others(13): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 2158/4331 | 2038/3906 | 680/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
DSP_chr6_7536671_7591714 | 7537048 | TAAACCA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(216): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0004a0001c0007others(54): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(58): Show | a0001c0001t0001g0002a0001c0001t0001g0065a0001c0001t0001g0110others(208): Show | 219 | 396 | 0.5530 | -6 | c.-48 others(17): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 4622 | chr6 | TogoVar | ||||||
DSP_chr6_7536671_7591714 | 7554082 | AACACAC | A | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01515.hp1 others(5): Show |
a0001a0008a0013 | a0001c0015a0001c0023a0001c0063others(2): Show | a0001c0015t0002a0001c0023t0001a0001c0063t0001others(2): Show | a0001c0015t0002g0069a0001c0015t0002g0076a0001c0023t0001g0077others(5): Show | 8 | 396 | 0.0202 | -6 | c.171 others(23): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DSTN_chr20_17565075_17614919 | 17574844 | CTTTTCT | C | intron_variant | MODIFIER | HG00621.hp1 NA18952.hp1 NA18992.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011a0001c0001t0034 | a0001c0001t0009g0068a0001c0001t0009g0170a0001c0001t0009g0203others(2): Show | 5 | 348 | 0.0144 | -6 | c.3+4 others(19): Show |
DSTN | ENSG00000125868.16 | transcript | ENST00000246069.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DSTYK_chr1_205137505_205216702 | 205181656 | TTGTGTG | T | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0005a0001c0007t0012g0123a0001c0007t0012g0124 | 4 | 348 | 0.0115 | -6 | c.654 others(23): Show |
DSTYK | ENSG00000133059.18 | transcript | ENST00000367162.8 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56461196 | TTATTAA | T | intron_variant | MODIFIER | HG02280.hp2 HG02572.hp2 HG02622.hp2 others(8): Show |
a0003a0007a0014others(3): Show | a0003c0004a0007c0008a0007c0053others(4): Show | a0003c0004t0001a0007c0008t0001a0007c0053t0001others(4): Show | a0003c0004t0001g0024a0003c0004t0001g0025a0003c0004t0001g0031others(8): Show | 11 | 84 | 0.1310 | -6 | c.230 others(25): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 102/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56470781 | AACACAC | A | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG01074.hp2 others(14): Show |
a0004a0009a0016others(10): Show | a0004c0003a0009c0016a0009c0056others(11): Show | a0004c0003t0001a0004c0003t0004a0009c0016t0001others(12): Show | a0004c0003t0001g0008a0004c0003t0001g0051a0004c0003t0004g0078others(14): Show | 17 | 84 | 0.2024 | -6 | c.223 others(25): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 95/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56514578 | TACACAC | T | intron_variant | MODIFIER | HG01358.hp2 HG02622.hp2 HG03041.hp1 others(4): Show |
a0003a0008a0014 | a0003c0004a0008c0049a0008c0052others(1): Show | a0003c0004t0001a0008c0049t0001a0008c0052t0001others(1): Show | a0003c0004t0001g0024a0003c0004t0001g0025a0003c0004t0001g0031others(4): Show | 7 | 84 | 0.0833 | -6 | c.185 others(25): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 72/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56546347 | CATATAT | C | intron_variant | MODIFIER | HG01069.hp2 HG01109.hp2 HG01358.hp1 others(5): Show |
a0001a0004a0006others(4): Show | a0001c0005a0004c0003a0006c0007others(4): Show | a0001c0005t0001a0004c0003t0001a0004c0003t0004others(5): Show | a0001c0005t0001g0079a0004c0003t0001g0051a0004c0003t0004g0078others(5): Show | 8 | 84 | 0.0952 | -6 | c.166 others(27): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 61/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56554073 | CTTTTTT | C | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp2 HG03041.hp1 others(4): Show |
a0003a0008a0014others(2): Show | a0003c0004a0008c0049a0014c0011others(2): Show | a0003c0004t0001a0008c0049t0001a0014c0011t0001others(2): Show | a0003c0004t0001g0025a0003c0004t0001g0031a0003c0004t0001g0061others(4): Show | 7 | 84 | 0.0833 | -6 | c.151 others(25): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 60/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56636269 | AACACAC | A | intron_variant | MODIFIER | HG03041.hp2 HG03486.hp1 |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0007c0008t0001 | a0001c0001t0001g0072a0007c0008t0001g0012 | 2 | 84 | 0.0238 | -6 | c.306 others(23): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 23/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56656848 | AATGTAT | A | intron_variant | MODIFIER | HG01358.hp2 HG01884.hp1 HG03195.hp1 others(2): Show |
a0006a0008 | a0006c0007a0008c0049a0008c0052 | a0006c0007t0001a0008c0049t0001a0008c0052t0001 | a0006c0007t0001g0013a0006c0007t0001g0014a0006c0007t0001g0071others(2): Show | 5 | 84 | 0.0595 | -6 | c.121 others(25): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 10/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56728973 | TACACAC | T | intron_variant | MODIFIER | HG02622.hp2 HG03041.hp1 HG03098.hp2 others(2): Show |
a0003a0014 | a0003c0004a0014c0011 | a0003c0004t0001a0014c0011t0001 | a0003c0004t0001g0024a0003c0004t0001g0025a0003c0004t0001g0031others(2): Show | 5 | 84 | 0.0595 | -6 | c.687 others(23): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 5/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56801129 | TTTTAAC | T | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG01433.hp1 others(9): Show |
a0001a0007a0011others(6): Show | a0001c0005a0007c0008a0007c0053others(7): Show | a0001c0005t0001a0007c0008t0001a0007c0053t0001others(7): Show | a0001c0005t0001g0032a0001c0005t0001g0079a0001c0005t0001g0080others(9): Show | 12 | 84 | 0.1429 | -6 | c.625 others(25): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 4/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56862542 | ACTTCAT | A | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG03041.hp1 others(2): Show |
a0003a0025 | a0003c0004a0025c0020 | a0003c0004t0001a0025c0020t0001 | a0003c0004t0001g0024a0003c0004t0001g0025a0003c0004t0001g0031others(2): Show | 5 | 84 | 0.0595 | -6 | c.418 others(25): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 3/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56920895 | ATTTTTT | A | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG02055.hp1 others(4): Show |
a0001a0004a0005others(4): Show | a0001c0001a0004c0003a0005c0006others(4): Show | a0001c0001t0001a0004c0003t0001a0005c0006t0001others(4): Show | a0001c0001t0001g0009a0004c0003t0001g0008a0005c0006t0001g0007others(4): Show | 7 | 84 | 0.0833 | -6 | c.217 others(25): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 2/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56934560 | TTATATA | T | intron_variant | MODIFIER | HG01358.hp2 HG02895.hp1 |
a0008a0030 | a0008c0052a0030c0043 | a0008c0052t0001a0030c0043t0001 | a0008c0052t0001g0022a0030c0043t0001g0023 | 2 | 84 | 0.0238 | -6 | c.216 others(25): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 2/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56940191 | TACACAC | T | intron_variant | MODIFIER | HG00621.hp1 HG01358.hp2 HG02615.hp2 |
a0008a0009a0022 | a0008c0052a0009c0016a0022c0046 | a0008c0052t0001a0009c0016t0001a0022c0046t0001 | a0008c0052t0001g0022a0009c0016t0001g0060a0022c0046t0001g0029 | 3 | 84 | 0.0357 | -6 | c.216 others(25): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 2/103 | chr6 | TogoVar | ||||||
DST_chr6_56609597_56647889 | 56636269 | AACACAC | A | intron_variant | MODIFIER | HG02965.hp1 HG03041.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0193a0001c0001t0001g0194 | 5 | 326 | 0.0153 | -6 | c.144 others(23): Show |
DST | ENSG00000151914.22 | transcript | ENST00000370765.11 | protein_coding | 9/23 | chr6 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18597154 | AGTGTGT | A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00544.hp2 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0039a0001c0001t0002g0040a0001c0001t0002g0041others(73): Show | 76 | 398 | 0.1910 | -6 | c.370 others(21): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DTD1_chr20_18583054_18771644 | 18601498 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(129): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0185others(129): Show | 132 | 398 | 0.3317 | -6 | c.370 others(23): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DTD1_chr20_18583054_18771644 | 18690191 | ATTTGTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00558.hp1 others(96): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0221others(96): Show | 99 | 398 | 0.2487 | -6 | c.478 others(25): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DTD1_chr20_18583054_18771644 | 18712390 | TGTGGGG | T | intron_variant | MODIFIER | HG00621.hp1 HG01358.hp2 HG01934.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0022 | a0001c0001t0010g0381a0001c0001t0010g0382a0001c0001t0010g0383others(2): Show | 5 | 398 | 0.0126 | -6 | c.478 others(25): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DTD1_chr20_18583054_18771644 | 18766737 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG01358.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0001g0002a0001c0001t0006g0224a0001c0001t0006g0233others(5): Show | 8 | 398 | 0.0201 | -6 | c.*33 others(17): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 94 | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18766767 | AAGAAAG | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00642.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0068a0001c0001t0002g0075a0001c0001t0002g0091others(6): Show | 9 | 398 | 0.0226 | -6 | c.*34 others(17): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 124 | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18768428 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG01361.hp2 HG02109.hp2 HG02258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018 | a0001c0001t0004g0159a0001c0001t0004g0160a0001c0001t0004g0161others(4): Show | 7 | 398 | 0.0176 | -6 | c.*50 others(17): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 1785 | chr20 | TogoVar | ||||||
DTL_chr1_212030748_212110013 | 212051442 | CTTTTTT | C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00639.hp2 others(27): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0292a0001c0001t0003g0002a0001c0001t0003g0021others(23): Show | 30 | 364 | 0.0824 | -6 | c.460 others(23): Show |
DTL | ENSG00000143476.18 | transcript | ENST00000366991.5 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DTNA_chr18_34705298_34896844 | 34706480 | ATATAAT | A | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02572.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0083a0001c0001t0003g0025a0001c0001t0005g0024others(1): Show | 4 | 112 | 0.0357 | -6 | c.-39 others(17): Show |
DTNA | ENSG00000134769.23 | transcript | ENST00000444659.6 | protein_coding | 3817 | chr18 | TogoVar | ||||||
DTNA_chr18_34705298_34896844 | 34749673 | TAATAAC | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02055.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0029a0001c0001t0001g0036others(9): Show | 12 | 112 | 0.1071 | -6 | c.-1- others(21): Show |
DTNA | ENSG00000134769.23 | transcript | ENST00000444659.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DTNA_chr18_34705298_34896844 | 34761126 | TCACACA | T | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG04199.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0102a0001c0001t0002g0099a0001c0001t0002g0103others(1): Show | 4 | 112 | 0.0357 | -6 | c.68- others(21): Show |
DTNA | ENSG00000134769.23 | transcript | ENST00000444659.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DTNA_chr18_34705298_34896844 | 34778807 | TTTGTTG | T | intron_variant | MODIFIER | HG02818.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0034a0001c0001t0006g0109 | 2 | 112 | 0.0179 | -6 | c.148 others(25): Show |
DTNA | ENSG00000134769.23 | transcript | ENST00000444659.6 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DTNA_chr18_34705298_34896844 | 34824949 | AAAAATT | A | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02622.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0014a0001c0001t0001g0071a0001c0001t0001g0085others(8): Show | 11 | 112 | 0.0982 | -6 | c.100 others(25): Show |
DTNA | ENSG00000134769.23 | transcript | ENST00000444659.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DTNA_chr18_34705298_34896844 | 34874635 | TTTCTTC | T | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02622.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0071a0001c0001t0001g0085others(6): Show | 9 | 112 | 0.0804 | -6 | c.174 others(23): Show |
DTNA | ENSG00000134769.23 | transcript | ENST00000444659.6 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DTNBP1_chr6_15517807_15668028 | 15548438 | GACACAC | G | intron_variant | MODIFIER | HG01175.hp2 HG02129.hp1 HG02717.hp2 others(16): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0022others(16): Show | 19 | 314 | 0.0605 | -6 | c.512 others(25): Show |
DTNBP1 | ENSG00000047579.20 | transcript | ENST00000344537.10 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DTNBP1_chr6_15517807_15668028 | 15585064 | AATATAT | A | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG01168.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0072a0001c0001t0001g0076a0001c0001t0001g0086others(14): Show | 17 | 314 | 0.0541 | -6 | c.511 others(23): Show |
DTNBP1 | ENSG00000047579.20 | transcript | ENST00000344537.10 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DTNB_chr2_25372243_25678577 | 25389846 | TTGTGTG | T | intron_variant | MODIFIER | HG01346.hp1 HG02280.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021a0001c0002t0001g0050a0001c0002t0001g0051others(2): Show | 5 | 168 | 0.0298 | -6 | c.157 others(25): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 16/20 | chr2 | TogoVar | ||||||
DTNB_chr2_25372243_25678577 | 25427180 | AACACAC | A | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01071.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0017a0001c0001t0001g0104a0001c0002t0001g0026others(3): Show | 6 | 168 | 0.0357 | -6 | c.155 others(23): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 15/20 | chr2 | TogoVar | ||||||
DTNB_chr2_25372243_25678577 | 25432206 | TACACAC | T | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG00735.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0036others(23): Show | 26 | 168 | 0.1548 | -6 | c.145 others(23): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 14/20 | chr2 | TogoVar | ||||||
DTNB_chr2_25372243_25678577 | 25502630 | TCCCAGC | T | intron_variant | MODIFIER | HG00639.hp2 HG02451.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0010a0001c0001t0001g0017a0001c0001t0001g0086others(2): Show | 5 | 168 | 0.0298 | -6 | c.100 others(27): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 9/20 | chr2 | TogoVar | ||||||
DTNB_chr2_25372243_25678577 | 25559276 | GCATCAA | G | intron_variant | MODIFIER | HG02109.hp1 HG02970.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0011 | 3 | 168 | 0.0179 | -6 | c.876 others(25): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 8/20 | chr2 | TogoVar | ||||||
DTNB_chr2_25372243_25678577 | 25589361 | TCTTTTC | T | intron_variant | MODIFIER | HG02647.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0034 | 2 | 168 | 0.0119 | -6 | c.603 others(23): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 6/20 | chr2 | TogoVar |