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 | 117595089 | C | CACACACA others(12): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0082 | 1 | 194 | 0.0052 | 19 | c.512 others(38): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117672102 | G | GAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02622.hp2 |
a0001a0002 | a0001c0009a0002c0002a0002c0010 | a0001c0009t0002a0002c0002t0003a0002c0010t0002 | a0001c0009t0002g0180a0002c0002t0003g0159a0002c0010t0002g0048 | 3 | 194 | 0.0155 | 19 | c.511 others(40): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
DSE_chr6_116365947_116449861 | 116421463 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0173 | 1 | 366 | 0.0027 | 19 | c.417 others(36): Show |
DSE | ENSG00000111817.19 | transcript | ENST00000644252.3 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DSE_chr6_116365947_116449861 | 116421464 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0249a0001c0001t0008g0158 | 2 | 366 | 0.0055 | 19 | c.417 others(36): Show |
DSE | ENSG00000111817.19 | transcript | ENST00000644252.3 | protein_coding | 2/5 | chr6 | TogoVar | ||||||
DSE_chr6_116365947_116449861 | 116446393 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG03516.hp2 HG03688.hp1 others(1): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0005a0004c0005t0012 | a0002c0002t0005g0061a0002c0002t0005g0062a0004c0005t0012g0067others(1): Show | 4 | 366 | 0.0109 | 19 | c.*90 others(30): Show |
DSE | ENSG00000111817.19 | transcript | ENST00000644252.3 | protein_coding | 1533 | chr6 | TogoVar | ||||||
DSN1_chr20_36746795_36778763 | 36763885 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0053 | 1 | 332 | 0.0030 | 19 | c.503 others(36): Show |
DSN1 | ENSG00000149636.16 | transcript | ENST00000373750.9 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
DSP_chr6_7536671_7591714 | 7554082 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0035 | 1 | 396 | 0.0025 | 19 | c.171 others(36): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 1/23 | chr6 | TogoVar | ||||||
DSP_chr6_7536671_7591714 | 7554126 | C | CACACACA others(12): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0373 | 1 | 396 | 0.0025 | 19 | c.171 others(36): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 1/23 | chr6 | TogoVar | ||||||
DSTN_chr20_17565075_17614919 | 17583735 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0281 | 1 | 348 | 0.0029 | 19 | c.3+1 others(34): Show |
DSTN | ENSG00000125868.16 | transcript | ENST00000246069.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DSTYK_chr1_205137505_205216702 | 205181653 | G | GTGTGTGT others(12): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 348 | 0.0029 | 19 | c.654 others(36): Show |
DSTYK | ENSG00000133059.18 | transcript | ENST00000367162.8 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56455972 | A | AATGTGGG others(12): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG03471.hp2 others(3): Show |
a0012a0015a0024others(2): Show | a0012c0009a0015c0012a0024c0019others(2): Show | a0012c0009t0003a0015c0012t0001a0024c0019t0002others(2): Show | a0012c0009t0003g0063a0012c0009t0003g0064a0015c0012t0001g0062others(3): Show | 6 | 84 | 0.0714 | 19 | c.*30 others(30): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 2023 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56712100 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03195.hp1 HG03209.hp2 others(2): Show |
a0006a0007a0015 | a0006c0007a0007c0053a0015c0012 | a0006c0007t0001a0007c0053t0001a0015c0012t0001 | a0006c0007t0001g0013a0006c0007t0001g0014a0006c0007t0001g0071others(2): Show | 5 | 84 | 0.0595 | 19 | c.688 others(36): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 5/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56722368 | G | GTTATTTA others(12): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0052 | 1 | 84 | 0.0119 | 19 | c.687 others(38): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 5/103 | chr6 | TogoVar | ||||||
DST_chr6_56609597_56647889 | 56615741 | T | TTGATAAC others(12): Show |
frameshift_variant | HIGH | NA19085.hp1 | a0018 | a0018c0033 | a0018c0033t0001 | a0018c0033t0001g0102 | 1 | 326 | 0.0031 | 19 | c.770 others(28): Show |
p.Ile others(6): Show |
DST | ENSG00000151914.22 | transcript | ENST00000370765.11 | protein_coding | 24/24 | 7826/8971 | 7725/7950 | 2575/2649 | chr6 | TogoVar | ||
DTL_chr1_212030748_212110013 | 212042230 | A | AGACATCT others(12): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp1 others(70): Show |
a0001a0009 | a0001c0001a0001c0006a0001c0019others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0025others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(59): Show | 73 | 364 | 0.2006 | 19 | c.53- others(32): Show |
DTL | ENSG00000143476.18 | transcript | ENST00000366991.5 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
DTL_chr1_212030748_212110013 | 212051442 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 364 | 0.0028 | 19 | c.460 others(36): Show |
DTL | ENSG00000143476.18 | transcript | ENST00000366991.5 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DTL_chr1_212030748_212110013 | 212074245 | A | AATTATGT others(12): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0253 | 1 | 364 | 0.0028 | 19 | c.103 others(38): Show |
DTL | ENSG00000143476.18 | transcript | ENST00000366991.5 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DTNA_chr18_34705298_34896844 | 34881437 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005 | a0001c0002t0003g0017a0001c0002t0005g0002 | 2 | 112 | 0.0179 | 19 | c.216 others(36): Show |
DTNA | ENSG00000134769.23 | transcript | ENST00000444659.6 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DTNB_chr2_25372243_25678577 | 25526395 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 168 | 0.0060 | 19 | c.100 others(38): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 9/20 | chr2 | TogoVar | ||||||
DTNB_chr2_25372243_25678577 | 25526395 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02080.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0081a0001c0002t0001g0159 | 2 | 168 | 0.0119 | 19 | c.100 others(38): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 9/20 | chr2 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76468758 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0135 | 1 | 280 | 0.0036 | 19 | c.-90 others(36): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DTX3_chr12_57599824_57614802 | 57611253 | C | CAGGGGAG others(12): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 4 | 418 | 0.0096 | 19 | c.*21 others(30): Show |
DTX3 | ENSG00000178498.16 | transcript | ENST00000337737.8 | protein_coding | 1452 | chr12 | TogoVar | ||||||
DUSP14_chr17_37484891_37518498 | 37489220 | G | GCCTCGGG others(12): Show |
upstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 421 | 0.0024 | 19 | c.-91 others(28): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 670 | chr17 | TogoVar | ||||||
DUSP14_chr17_37484891_37518498 | 37511585 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0287 | 1 | 421 | 0.0024 | 19 | c.-92 others(34): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DUSP14_chr17_37484891_37518498 | 37511937 | A | AGTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG01884.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081a0001c0001t0002g0088a0001c0001t0002g0128others(18): Show | 21 | 421 | 0.0499 | 19 | c.-92 others(34): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 2/2 | chr17 | TogoVar | ||||||
DUSP26_chr8_33586330_33605023 | 33587526 | T | TTTCTTTC others(12): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 420 | 0.0024 | 19 | c.*44 others(30): Show |
DUSP26 | ENSG00000133878.9 | transcript | ENST00000256261.9 | protein_coding | 3803 | chr8 | TogoVar | ||||||
DUSP29_chr10_75032472_75078642 | 75074307 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020 | 1 | 368 | 0.0027 | 19 | c.-77 others(28): Show |
DUSP29 | ENSG00000188716.6 | transcript | ENST00000338487.6 | protein_coding | 666 | chr10 | TogoVar | ||||||
DUSP9_chrX_153642203_153656326 | 153650667 | C | CAGTCCCG others(12): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00642.hp1 others(49): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0003others(11): Show | 52 | 328 | 0.1585 | 19 | c.*36 others(28): Show |
DUSP9 | ENSG00000130829.18 | transcript | ENST00000342782.4 | protein_coding | 4/4 | 366 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
DUT_chr15_48326429_48348373 | 48346963 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 HG02273.hp2 NA18968.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019a0001c0002t0002g0030 | 3 | 388 | 0.0077 | 19 | c.*48 others(30): Show |
DUT | ENSG00000128951.14 | transcript | ENST00000331200.8 | protein_coding | 3591 | chr15 | TogoVar | ||||||
DUXA_chr19_57149021_57172485 | 57161324 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01433.hp2 others(11): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0005a0004c0005t0001 | a0001c0001t0001g0028a0001c0001t0001g0082a0001c0001t0001g0119others(10): Show | 14 | 446 | 0.0314 | 19 | c.26- others(32): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
DUXA_chr19_57149021_57172485 | 57165322 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01346.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0087a0001c0001t0002g0011a0001c0001t0002g0086 | 4 | 446 | 0.0090 | 19 | c.25+ others(34): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
DUXA_chr19_57149021_57172485 | 57165324 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01346.hp1 HG03669.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0092a0001c0001t0002g0091a0001c0001t0002g0093others(1): Show | 4 | 446 | 0.0090 | 19 | c.25+ others(34): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
DUXA_chr19_57149021_57172485 | 57172060 | T | TGCGAGGG others(12): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0355 | 1 | 446 | 0.0022 | 19 | c.-46 others(30): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4576 | chr19 | TogoVar | ||||||
DUXA_chr19_57149021_57172485 | 57172082 | A | AGGGGGGC others(12): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 446 | 0.0022 | 19 | c.-46 others(30): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4598 | chr19 | TogoVar | ||||||
DUXA_chr19_57149021_57172485 | 57172173 | C | CGGGGGCG others(12): Show |
upstream_gene_variant | MODIFIER | NA18989.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0035 | 2 | 446 | 0.0045 | 19 | c.-47 others(30): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4689 | chr19 | TogoVar | ||||||
DVL2_chr17_7220342_7239517 | 7233087 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00597.hp2 others(46): Show |
a0001a0006a0009 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0011others(5): Show | a0001c0001t0001g0135a0001c0001t0001g0136a0001c0002t0001g0003others(11): Show | 49 | 406 | 0.1207 | 19 | c.194 others(34): Show |
DVL2 | ENSG00000004975.12 | transcript | ENST00000005340.10 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
DYDC1_chr10_80331105_80361755 | 80346444 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 366 | 0.0027 | 19 | c.250 others(36): Show |
DYDC1 | ENSG00000170788.14 | transcript | ENST00000372202.6 | protein_coding | 3/6 | chr10 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49080150 | C | CGGGGGGG others(12): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18989.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162a0001c0001t0002g0190a0001c0001t0002g0194 | 3 | 290 | 0.0103 | 19 | c.202 others(40): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49195916 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0025 | a0001c0003t0025g0278 | 1 | 290 | 0.0035 | 19 | c.162 others(40): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49252216 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01884.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0035 | a0001c0001t0003g0252a0001c0001t0003g0271a0001c0001t0005g0250others(2): Show | 5 | 290 | 0.0172 | 19 | c.146 others(38): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 13/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49317646 | C | CTCCTCTC others(12): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01106.hp2 HG01109.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0142a0001c0001t0002g0170a0001c0001t0002g0176others(19): Show | 22 | 290 | 0.0759 | 19 | c.763 others(38): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49393034 | A | AGGAGGAG others(12): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0014 | 1 | 290 | 0.0035 | 19 | c.141 others(36): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 2/17 | chr18 | TogoVar | ||||||
DYNC1I1_chr7_95767554_96103424 | 96084427 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 230 | 0.0044 | 19 | c.177 others(38): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC1I1_chr7_95767554_96103424 | 96100650 | T | TGTGTGTG others(12): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG01192.hp1 HG01433.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0151a0001c0001t0001g0187a0001c0003t0001g0015 | 3 | 230 | 0.0130 | 19 | c.*30 others(30): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 2227 | chr7 | TogoVar | ||||||
DYNC1LI1_chr3_32520974_32575858 | 32532480 | A | ATGTGTAT others(12): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0069 | 1 | 336 | 0.0030 | 19 | c.108 others(36): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 8/12 | chr3 | TogoVar | ||||||
DYNC1LI1_chr3_32520974_32575858 | 32537937 | A | ATAATTTA others(12): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01496.hp1 HG01952.hp2 others(2): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0003a0008c0008t0003 | a0001c0001t0003g0003a0001c0001t0003g0023a0001c0001t0003g0026others(1): Show | 5 | 336 | 0.0149 | 19 | c.739 others(34): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
DYNC2H1_chr11_103104426_103484863 | 103288684 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01981.hp2 NA18942.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0003 | a0001c0001t0004a0001c0008t0001a0002c0003t0001 | a0001c0001t0004g0153a0001c0008t0001g0186a0002c0003t0001g0023others(4): Show | 7 | 262 | 0.0267 | 19 | c.110 others(40): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 75/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103288706 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0089 | 1 | 262 | 0.0038 | 19 | c.110 others(40): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 75/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103309168 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01516.hp1 HG02559.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0032 | a0001c0001t0001a0001c0006t0001a0002c0032t0001 | a0001c0001t0001g0105a0001c0001t0001g0114a0001c0001t0001g0139others(3): Show | 6 | 262 | 0.0229 | 19 | c.114 others(40): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 78/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103483022 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 NA18954.hp1 NA18983.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008a0001c0029others(1): Show | a0001c0001t0001a0001c0008t0001a0001c0029t0001others(1): Show | a0001c0001t0001g0109a0001c0008t0001g0188a0001c0029t0001g0098others(1): Show | 4 | 262 | 0.0153 | 19 | c.*37 others(30): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 3160 | chr11 | TogoVar |