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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DRP2_chrX_101214786_101269502 | 101224191 | GTTTTT | G | intron_variant | MODIFIER | HG02280.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208a0001c0001t0003g0213 | 2 | 260 | 0.0077 | -5 | c.-16 others(22): Show |
DRP2 | ENSG00000102385.13 | transcript | ENST00000395209.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DRP2_chrX_101214786_101269502 | 101252452 | CCACTG | C | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019a0001c0001t0003g0202 | 2 | 260 | 0.0077 | -5 | c.186 others(22): Show |
DRP2 | ENSG00000102385.13 | transcript | ENST00000395209.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DRP2_chrX_101214786_101269502 | 101253540 | CTTTTT | C | intron_variant | MODIFIER | NA18950.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027a0001c0001t0002g0065 | 2 | 260 | 0.0077 | -5 | c.197 others(22): Show |
DRP2 | ENSG00000102385.13 | transcript | ENST00000395209.8 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DRP2_chrX_101214786_101269502 | 101265088 | TTTTTC | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(217): Show | 258 | 260 | 0.9923 | -5 | c.*44 others(16): Show |
DRP2 | ENSG00000102385.13 | transcript | ENST00000395209.8 | protein_coding | 587 | chrX | TogoVar | ||||||
DSC1_chr18_31124236_31167856 | 31143376 | AAAAAT | A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00609.hp1 others(121): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0008a0001c0009others(7): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(13): Show | a0001c0004t0001g0026a0001c0004t0001g0152a0001c0004t0001g0170others(101): Show | 124 | 378 | 0.3280 | -5 | c.107 others(22): Show |
DSC1 | ENSG00000134765.10 | transcript | ENST00000257198.6 | protein_coding | 8/15 | chr18 | TogoVar | ||||||
DSC1_chr18_31124236_31167856 | 31144935 | TCTTTC | T | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp1 HG02895.hp2 others(9): Show |
a0001a0002a0003 | a0001c0004a0001c0008a0002c0002others(3): Show | a0001c0004t0001a0001c0004t0002a0001c0008t0001others(4): Show | a0001c0004t0001g0212a0001c0004t0002g0191a0001c0008t0001g0015others(8): Show | 12 | 378 | 0.0318 | -5 | c.939 others(20): Show |
DSC1 | ENSG00000134765.10 | transcript | ENST00000257198.6 | protein_coding | 7/15 | chr18 | TogoVar | ||||||
DSC2_chr18_31053840_31107421 | 31075864 | GAAAGA | G | intron_variant | MODIFIER | HG00099.hp2 HG02602.hp1 HG02738.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037a0001c0001t0003g0273a0001c0001t0003g0275others(1): Show | 5 | 380 | 0.0132 | -5 | c.166 others(22): Show |
DSC2 | ENSG00000134755.18 | transcript | ENST00000280904.11 | protein_coding | 11/15 | chr18 | TogoVar | ||||||
DSC2_chr18_31053840_31107421 | 31098580 | AAGTAG | A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02145.hp1 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0078a0002c0002t0021a0002c0002t0076others(5): Show | a0001c0001t0078g0302a0002c0002t0021g0016a0002c0002t0076g0301others(5): Show | 10 | 380 | 0.0263 | -5 | c.69+ others(20): Show |
DSC2 | ENSG00000134755.18 | transcript | ENST00000280904.11 | protein_coding | 1/15 | chr18 | TogoVar | ||||||
DSC3_chr18_30984365_31047742 | 30992174 | AAGGGG | A | 3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01257.hp1 others(3): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0023a0002c0003t0023a0002c0003t0049 | a0002c0002t0023g0060a0002c0002t0023g0253a0002c0003t0023g0280others(2): Show | 6 | 392 | 0.0153 | -5 | c.*19 others(16): Show |
DSC3 | ENSG00000134762.17 | transcript | ENST00000360428.9 | protein_coding | 16/16 | 1996 | chr18 | TogoVar | |||||
DSCAML1_chr11_117422772_117802216 | 117482648 | CTGTGA | C | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01074.hp2 others(21): Show |
a0001a0002a0005others(1): Show | a0001c0016a0001c0022a0001c0024others(12): Show | a0001c0016t0001a0001c0022t0001a0001c0024t0002others(17): Show | a0001c0016t0001g0044a0001c0016t0001g0078a0001c0022t0001g0135others(21): Show | 24 | 194 | 0.1237 | -5 | c.236 others(22): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 11/32 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117542297 | AAAAAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00642.hp2 others(28): Show |
a0001a0002a0006 | a0001c0012a0001c0026a0001c0050others(10): Show | a0001c0012t0003a0001c0026t0001a0001c0050t0001others(18): Show | a0001c0012t0003g0094a0001c0012t0003g0095a0001c0026t0001g0003others(28): Show | 31 | 194 | 0.1598 | -5 | c.512 others(22): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117561574 | TTCTCC | T | intron_variant | MODIFIER | HG02451.hp1 HG03098.hp1 |
a0001 | a0001c0011a0001c0023 | a0001c0011t0004a0001c0023t0001 | a0001c0011t0004g0064a0001c0023t0001g0062 | 2 | 194 | 0.0103 | -5 | c.512 others(24): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117575846 | CCAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01515.hp1 others(8): Show |
a0001a0002 | a0001c0027a0002c0001a0002c0002others(2): Show | a0001c0027t0001a0002c0001t0001a0002c0001t0002others(8): Show | a0001c0027t0001g0012a0002c0001t0001g0126a0002c0001t0002g0175others(8): Show | 11 | 194 | 0.0567 | -5 | c.512 others(24): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117609030 | ACAAAC | A | intron_variant | MODIFIER | HG01123.hp2 HG02109.hp2 HG02280.hp1 others(6): Show |
a0001a0002 | a0001c0028a0002c0002a0002c0004others(3): Show | a0001c0028t0004a0002c0002t0001a0002c0002t0003others(5): Show | a0001c0028t0004g0006a0002c0002t0001g0047a0002c0002t0003g0013others(6): Show | 9 | 194 | 0.0464 | -5 | c.512 others(24): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117718668 | ACCCCC | A | intron_variant | MODIFIER | HG01123.hp2 HG01243.hp1 HG01884.hp1 others(13): Show |
a0001a0002 | a0001c0005a0001c0007a0001c0009others(10): Show | a0001c0005t0001a0001c0007t0001a0001c0009t0002others(11): Show | a0001c0005t0001g0099a0001c0007t0001g0092a0001c0007t0001g0111others(13): Show | 16 | 194 | 0.0825 | -5 | c.511 others(24): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117725801 | CACAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(76): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0007a0001c0008others(38): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0004others(57): Show | a0001c0005t0001g0084a0001c0005t0001g0190a0001c0005t0002g0144others(76): Show | 79 | 194 | 0.4072 | -5 | c.511 others(24): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117726816 | CTTGGA | C | intron_variant | MODIFIER | HG02280.hp1 HG02970.hp1 HG03195.hp1 |
a0001a0002 | a0001c0020a0001c0045a0002c0063 | a0001c0020t0003a0001c0045t0006a0002c0063t0003 | a0001c0020t0003g0021a0001c0045t0006g0152a0002c0063t0003g0153 | 3 | 194 | 0.0155 | -5 | c.511 others(24): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117728597 | GAATAC | G | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01891.hp2 others(15): Show |
a0001a0002 | a0001c0011a0001c0015a0001c0023others(12): Show | a0001c0011t0002a0001c0011t0003a0001c0015t0002others(14): Show | a0001c0011t0002g0007a0001c0011t0003g0050a0001c0015t0002g0038others(15): Show | 18 | 194 | 0.0928 | -5 | c.511 others(24): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
DSCC1_chr8_119828976_119860894 | 119854643 | TTTTTG | T | intron_variant | MODIFIER | HG00738.hp2 HG02027.hp2 HG02145.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0173a0001c0001t0002g0010a0001c0001t0002g0014others(6): Show | 17 | 378 | 0.0450 | -5 | c.182 others(20): Show |
DSCC1 | ENSG00000136982.6 | transcript | ENST00000313655.5 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
DSEL_chr18_67501587_67521720 | 67506148 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(34): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(11): Show | a0001c0001t0002g0002a0001c0001t0003g0020a0001c0001t0010g0010others(13): Show | 37 | 421 | 0.0879 | -5 | c.*48 others(16): Show |
DSEL | ENSG00000171451.15 | transcript | ENST00000310045.9 | protein_coding | 438 | chr18 | TogoVar | ||||||
DSG1_chr18_31313160_31364246 | 31324291 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(78): Show |
a0002a0005a0006others(6): Show | a0002c0002a0002c0048a0005c0037others(7): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0010others(15): Show | a0002c0002t0002g0005a0002c0002t0002g0006a0002c0002t0002g0014others(62): Show | 81 | 302 | 0.2682 | -5 | c.49- others(20): Show |
DSG1 | ENSG00000134760.6 | transcript | ENST00000257192.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DSG1_chr18_31313160_31364246 | 31345639 | TAGTTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(154): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0019a0002c0002others(37): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(63): Show | a0001c0001t0001g0010a0001c0001t0001g0028a0001c0001t0001g0129others(129): Show | 157 | 302 | 0.5199 | -5 | c.189 others(22): Show |
DSG1 | ENSG00000134760.6 | transcript | ENST00000257192.5 | protein_coding | 13/14 | chr18 | TogoVar | ||||||
DSG2_chr18_31493177_31554008 | 31508353 | ATTTAT | A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01175.hp1 others(24): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0003t0004a0001c0003t0008others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0043others(21): Show | 27 | 354 | 0.0763 | -5 | c.46- others(20): Show |
DSG2 | ENSG00000046604.14 | transcript | ENST00000261590.13 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DSG2_chr18_31493177_31554008 | 31522310 | CTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp1 others(36): Show |
a0001a0004a0007others(1): Show | a0001c0003a0004c0009a0007c0015others(1): Show | a0001c0003t0003a0001c0003t0016a0004c0009t0003others(2): Show | a0001c0003t0003g0004a0001c0003t0003g0032a0001c0003t0003g0040others(28): Show | 39 | 354 | 0.1102 | -5 | c.690 others(18): Show |
DSG2 | ENSG00000046604.14 | transcript | ENST00000261590.13 | protein_coding | 6/14 | chr18 | TogoVar | ||||||
DSG2_chr18_31493177_31554008 | 31532904 | CTGTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02622.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0191a0001c0003t0004g0210a0001c0003t0004g0250 | 3 | 354 | 0.0085 | -5 | c.128 others(24): Show |
DSG2 | ENSG00000046604.14 | transcript | ENST00000261590.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DSG2_chr18_31493177_31554008 | 31550721 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG00741.hp1 HG02572.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0006a0001c0010 | a0001c0006t0020a0001c0010t0007 | a0001c0006t0020g0081a0001c0010t0007g0059a0001c0010t0007g0277others(3): Show | 6 | 354 | 0.0170 | -5 | c.*39 others(16): Show |
DSG2 | ENSG00000046604.14 | transcript | ENST00000261590.13 | protein_coding | 1714 | chr18 | TogoVar | ||||||
DSN1_chr20_36746795_36778763 | 36757570 | CCAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0063a0001c0001t0001g0074a0001c0001t0001g0109others(12): Show | 15 | 332 | 0.0452 | -5 | c.725 others(20): Show |
DSN1 | ENSG00000149636.16 | transcript | ENST00000373750.9 | protein_coding | 8/10 | chr20 | TogoVar | ||||||
DSPP_chr4_87603529_87621873 | 87605101 | GTTTTT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00738.hp1 others(70): Show |
a0004a0005a0010others(11): Show | a0004c0005a0004c0010a0004c0011others(15): Show | a0004c0005t0001a0004c0010t0001a0004c0011t0001others(15): Show | a0004c0005t0001g0005a0004c0005t0001g0007a0004c0005t0001g0008others(25): Show | 73 | 450 | 0.1622 | -5 | c.-35 others(16): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 3427 | chr4 | TogoVar | ||||||
DSP_chr6_7536671_7591714 | 7552659 | GTTGTT | G | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01192.hp1 others(27): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0050others(8): Show | a0001c0001t0001a0001c0004t0001a0001c0050t0001others(9): Show | a0001c0001t0001g0065a0001c0001t0001g0164a0001c0001t0001g0201others(27): Show | 30 | 396 | 0.0758 | -5 | c.171 others(22): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DSP_chr6_7536671_7591714 | 7564330 | AAGAGG | A | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02572.hp1 others(2): Show |
a0001a0009 | a0001c0010a0001c0015a0009c0062 | a0001c0010t0001a0001c0015t0002a0009c0062t0001 | a0001c0010t0001g0336a0001c0015t0002g0232a0001c0015t0002g0337others(2): Show | 5 | 396 | 0.0126 | -5 | c.777 others(20): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DSP_chr6_7536671_7591714 | 7582227 | ATATTT | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(98): Show |
a0001a0003a0004others(11): Show | a0001c0015a0001c0017a0003c0005others(23): Show | a0001c0015t0002a0001c0017t0002a0003c0005t0002others(26): Show | a0001c0015t0002g0069a0001c0015t0002g0076a0001c0015t0002g0232others(96): Show | 101 | 396 | 0.2551 | -5 | c.538 others(22): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DSTN_chr20_17565075_17614919 | 17591231 | CTTTTG | C | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02896.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009a0001c0001t0003g0010a0001c0001t0003g0047others(3): Show | 8 | 348 | 0.0230 | -5 | c.4-9 others(18): Show |
DSTN | ENSG00000125868.16 | transcript | ENST00000246069.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DSTN_chr20_17565075_17614919 | 17596630 | ATTGGT | A | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0034a0001c0001t0010g0035a0001c0001t0010g0036others(1): Show | 4 | 348 | 0.0115 | -5 | c.4-4 others(18): Show |
DSTN | ENSG00000125868.16 | transcript | ENST00000246069.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DSTYK_chr1_205137505_205216702 | 205176476 | TAAAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00738.hp2 others(23): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0006c0017 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0078a0001c0001t0002g0088a0001c0001t0002g0089others(23): Show | 26 | 348 | 0.0747 | -5 | c.655 others(22): Show |
DSTYK | ENSG00000133059.18 | transcript | ENST00000367162.8 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
DSTYK_chr1_205137505_205216702 | 205203546 | AAGGGG | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp2 others(135): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0004others(131): Show | 138 | 348 | 0.3966 | -5 | c.265 others(22): Show |
DSTYK | ENSG00000133059.18 | transcript | ENST00000367162.8 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
DSTYK_chr1_205137505_205216702 | 205210435 | AAAGTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp2 others(41): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(2): Show | a0001c0001t0002g0033a0001c0001t0004g0001a0001c0001t0004g0015others(40): Show | 44 | 348 | 0.1264 | -5 | c.265 others(20): Show |
DSTYK | ENSG00000133059.18 | transcript | ENST00000367162.8 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56468158 | GTAAAA | G | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG00741.hp2 others(35): Show |
a0002a0003a0004others(20): Show | a0002c0002a0003c0004a0004c0003others(22): Show | a0002c0002t0001a0003c0004t0001a0004c0003t0001others(23): Show | a0002c0002t0001g0065a0002c0002t0001g0066a0002c0002t0001g0067others(35): Show | 38 | 84 | 0.4524 | -5 | c.225 others(24): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 98/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56483527 | CTTTTT | C | intron_variant | MODIFIER | HG01358.hp2 HG02055.hp2 HG02615.hp2 others(8): Show |
a0003a0008a0009others(4): Show | a0003c0004a0008c0052a0009c0016others(5): Show | a0003c0004t0001a0008c0052t0001a0009c0016t0001others(5): Show | a0003c0004t0001g0024a0003c0004t0001g0025a0003c0004t0001g0031others(8): Show | 11 | 84 | 0.1310 | -5 | c.212 others(24): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 88/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56563397 | GTCTGT | G | intron_variant | MODIFIER | HG01069.hp1 HG02055.hp2 HG02451.hp2 others(5): Show |
a0002a0009a0013 | a0002c0002a0009c0016a0009c0056others(1): Show | a0002c0002t0001a0009c0016t0001a0009c0056t0001others(1): Show | a0002c0002t0001g0065a0002c0002t0001g0066a0002c0002t0001g0067others(5): Show | 8 | 84 | 0.0952 | -5 | c.140 others(26): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 55/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56586036 | AGGTGT | A | intron_variant | MODIFIER | HG02451.hp1 HG06807.hp2 NA19043.hp2 |
a0024a0025a0048 | a0024c0019a0025c0020a0048c0018 | a0024c0019t0002a0025c0020t0001a0048c0018t0005 | a0024c0019t0002g0074a0025c0020t0001g0073a0048c0018t0005g0044 | 3 | 84 | 0.0357 | -5 | c.129 others(26): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 49/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56703871 | CAAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 NA19043.hp2 others(1): Show |
a0009a0020a0048 | a0009c0016a0009c0056a0020c0022others(1): Show | a0009c0016t0001a0009c0056t0001a0020c0022t0001others(1): Show | a0009c0016t0001g0060a0009c0056t0001g0016a0020c0022t0001g0027others(1): Show | 4 | 84 | 0.0476 | -5 | c.778 others(20): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 6/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56793068 | CAAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG02683.hp2 others(2): Show |
a0001a0017a0030 | a0001c0005a0017c0023a0030c0043 | a0001c0005t0001a0017c0023t0001a0030c0043t0001 | a0001c0005t0001g0032a0001c0005t0001g0079a0001c0005t0001g0080others(2): Show | 5 | 84 | 0.0595 | -5 | c.626 others(24): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 4/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56893588 | ATTTTT | A | intron_variant | MODIFIER | HG01069.hp1 HG02280.hp2 HG02809.hp1 others(1): Show |
a0002a0007a0033 | a0002c0002a0007c0008a0007c0053others(1): Show | a0002c0002t0001a0007c0008t0001a0007c0053t0001others(1): Show | a0002c0002t0001g0077a0007c0008t0001g0052a0007c0053t0001g0049others(1): Show | 4 | 84 | 0.0476 | -5 | c.417 others(22): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 3/103 | chr6 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18589383 | AAAAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(222): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0185others(222): Show | 225 | 398 | 0.5653 | -5 | c.43+ others(20): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DTD1_chr20_18583054_18771644 | 18601498 | CAAAAA | C | intron_variant | MODIFIER | HG01261.hp1 HG01433.hp1 HG01943.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0002g0266a0001c0001t0003g0169a0001c0001t0003g0170others(12): Show | 15 | 398 | 0.0377 | -5 | c.370 others(22): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DTD1_chr20_18583054_18771644 | 18626745 | GTTCTA | G | intron_variant | MODIFIER | HG02559.hp1 HG03139.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0378a0001c0001t0001g0379a0001c0001t0011g0377others(1): Show | 4 | 398 | 0.0101 | -5 | c.371 others(22): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DTD1_chr20_18583054_18771644 | 18695536 | TTTCCC | T | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG01099.hp1 others(60): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0001g0221a0001c0001t0001g0228a0001c0001t0001g0229others(60): Show | 63 | 398 | 0.1583 | -5 | c.478 others(24): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DTD1_chr20_18583054_18771644 | 18695572 | TTCCCC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(269): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0185a0001c0001t0001g0197others(268): Show | 272 | 398 | 0.6834 | -5 | c.478 others(24): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DTD1_chr20_18583054_18771644 | 18766737 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01884.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0276a0001c0001t0001g0277a0001c0001t0001g0278others(36): Show | 39 | 398 | 0.0980 | -5 | c.*33 others(16): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 94 | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18768309 | ATCTAT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(155): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0038others(155): Show | 158 | 398 | 0.3970 | -5 | c.*49 others(16): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 1666 | chr20 | TogoVar |