| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DNAH9_chr17_11593470_11974748 | 11708006 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 |
a0004a0005 | a0004c0072a0005c0070 | a0004c0072t0001a0005c0070t0001 | a0004c0072t0001g0093a0005c0070t0001g0026 | 2 | 178 | 0.0112 | -20 | c.555 others(39): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DNAH9_chr17_11593470_11974748 | 11805523 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0055 | 1 | 178 | 0.0056 | -20 | c.842 others(39): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 43/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DNAH9_chr17_11593470_11974748 | 11852814 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02647.hp2 others(4): Show |
a0001a0008a0018others(4): Show | a0001c0127a0008c0034a0018c0149others(4): Show | a0001c0127t0001a0008c0034t0001a0018c0149t0001others(4): Show | a0001c0127t0001g0052a0008c0034t0001g0069a0018c0149t0001g0011others(4): Show | 7 | 178 | 0.0393 | -20 | c.950 others(39): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DNAI1_chr9_34453805_34525984 | 34492493 | GATATATA others(13): Show |
G | intron_variant | MODIFIER | HG02622.hp2 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086a0001c0001t0001g0171 | 2 | 382 | 0.0052 | -20 | c.682 others(35): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DNAI2_chr17_74269234_74319884 | 74301890 | GGAAGGAA others(13): Show |
G | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0189 | 1 | 398 | 0.0025 | -20 | c.987 others(35): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DNAI2_chr17_74269234_74319884 | 74301946 | GGAAGGAA others(13): Show |
G | intron_variant | MODIFIER | NA18955.hp2 NA18968.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0068a0003c0004t0001g0069 | 2 | 398 | 0.0050 | -20 | c.987 others(35): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DNAI2_chr17_74269234_74319884 | 74301966 | AGAAGGAA others(13): Show |
A | intron_variant | MODIFIER | HG02523.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0057 | 1 | 398 | 0.0025 | -20 | c.987 others(35): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DNAI2_chr17_74269234_74319884 | 74302050 | GGAAGGAA others(13): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp2 HG01928.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0001a0003c0004t0002 | a0001c0001t0002g0294a0003c0004t0001g0059a0003c0004t0001g0068others(3): Show | 6 | 398 | 0.0151 | -20 | c.987 others(35): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DNAI2_chr17_74269234_74319884 | 74304179 | CTTTTTTC others(13): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02109.hp2 HG02280.hp1 others(9): Show |
a0002a0003a0014 | a0002c0008a0002c0010a0002c0028others(3): Show | a0002c0008t0003a0002c0010t0002a0002c0010t0003others(4): Show | a0002c0008t0003g0235a0002c0010t0002g0378a0002c0010t0002g0386others(9): Show | 12 | 398 | 0.0302 | -20 | c.988 others(37): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DNAI3_chr1_85057327_85138138 | 85130667 | TGATAGAT others(13): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0366a0002c0002t0001g0192a0002c0002t0001g0305 | 3 | 374 | 0.0080 | -20 | c.253 others(37): Show |
DNAI3 | ENSG00000162643.13 | transcript | ENST00000294664.11 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNAI4_chr1_66807885_66929856 | 66835193 | CAGATAGA others(13): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01168.hp1 HG01192.hp1 others(13): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0002c0002t0001a0004c0006t0001 | a0001c0001t0001g0086a0001c0001t0001g0152a0001c0001t0001g0183others(13): Show | 16 | 264 | 0.0606 | -20 | c.173 others(37): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 11/16 | chr1 | TogoVar | ||||||
| DNAI4_chr1_66807885_66929856 | 66836190 | AAGAAAGA others(13): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02818.hp1 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0022a0002c0002t0001g0035a0002c0002t0001g0181 | 3 | 264 | 0.0114 | -20 | c.158 others(37): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 10/16 | chr1 | TogoVar | ||||||
| DNAI4_chr1_66807885_66929856 | 66836250 | GAGAGAGA others(13): Show |
G | intron_variant | MODIFIER | NA20752.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0250 | 1 | 264 | 0.0038 | -20 | c.158 others(37): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 10/16 | chr1 | TogoVar | ||||||
| DNAI4_chr1_66807885_66929856 | 66836254 | GAGAAAGA others(13): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp2 HG01106.hp2 others(16): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0003t0001g0084others(16): Show | 19 | 264 | 0.0720 | -20 | c.158 others(37): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 10/16 | chr1 | TogoVar | ||||||
| DNAJA1_chr9_33020273_33044907 | 33038452 | GTTTTATT others(13): Show |
G | intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 444 | 0.0023 | -20 | c.976 others(35): Show |
DNAJA1 | ENSG00000086061.16 | transcript | ENST00000330899.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DNAJB12_chr10_72327863_72359919 | 72356829 | GATATATA others(13): Show |
G | upstream_gene_variant | MODIFIER | HG02280.hp1 NA18945.hp2 NA18975.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0010 | a0001c0001t0004g0039a0001c0001t0005g0038a0001c0001t0010g0131others(1): Show | 4 | 292 | 0.0137 | -20 | c.-19 others(31): Show |
DNAJB12 | ENSG00000148719.16 | transcript | ENST00000444643.8 | protein_coding | 1911 | chr10 | TogoVar | ||||||
| DNAJB13_chr11_73946026_73975281 | 73962480 | GGTAGGCG others(13): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 436 | 0.0023 | -20 | c.335 others(37): Show |
DNAJB13 | ENSG00000187726.9 | transcript | ENST00000339764.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| DNAJB13_chr11_73946026_73975281 | 73964794 | TGTGTGTG others(13): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 436 | 0.0023 | -20 | c.335 others(33): Show |
DNAJB13 | ENSG00000187726.9 | transcript | ENST00000339764.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| DNAJB6_chr7_157332004_157422439 | 157339628 | TGTGTGTG others(13): Show |
T | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 372 | 0.0027 | -20 | c.-27 others(37): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DNAJB6_chr7_157332004_157422439 | 157357349 | CGGTGGCA others(13): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0146 | 1 | 372 | 0.0027 | -20 | c.-26 others(37): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DNAJB8_chr3_128457437_128471890 | 128461057 | CCACTCCC others(13): Show |
C | downstream_gene_variant | MODIFIER | HG01169.hp1 | a0008 | a0008c0014 | a0008c0014t0006 | a0008c0014t0006g0113 | 1 | 458 | 0.0022 | -20 | c.*14 others(31): Show |
DNAJB8 | ENSG00000179407.4 | transcript | ENST00000319153.4 | protein_coding | 1379 | chr3 | TogoVar | ||||||
| DNAJC10_chr2_182711257_182799464 | 182793820 | TCACACAC others(13): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01261.hp1 HG02717.hp2 HG03225.hp2 |
a0002 | a0002c0006 | a0002c0006t0045a0002c0006t0132 | a0002c0006t0045g0267a0002c0006t0045g0268a0002c0006t0132g0266 | 3 | 310 | 0.0097 | -20 | c.*16 others(33): Show |
DNAJC10 | ENSG00000077232.19 | transcript | ENST00000264065.12 | protein_coding | 24/24 | 16714 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
| DNAJC11_chr1_6629170_6706816 | 6669513 | TAGAAAAG others(13): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG02055.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014 | a0001c0001t0001g0126a0001c0001t0003g0226a0001c0001t0014g0227others(1): Show | 4 | 366 | 0.0109 | -20 | c.277 others(37): Show |
DNAJC11 | ENSG00000007923.17 | transcript | ENST00000377577.10 | protein_coding | 3/15 | chr1 | TogoVar | ||||||
| DNAJC12_chr10_67791669_67843188 | 67819679 | AAAGAAAG others(13): Show |
A | intron_variant | MODIFIER | HG02683.hp1 NA19065.hp2 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243a0001c0001t0001g0257a0001c0001t0001g0258 | 3 | 384 | 0.0078 | -20 | c.157 others(37): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
| DNAJC12_chr10_67791669_67843188 | 67819687 | AAAGAAAG others(13): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG01891.hp1 NA19002.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0259a0001c0001t0004g0292a0001c0002t0002g0326 | 3 | 384 | 0.0078 | -20 | c.157 others(37): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
| DNAJC12_chr10_67791669_67843188 | 67819695 | AAAGGAAG others(13): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 384 | 0.0026 | -20 | c.157 others(37): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
| DNAJC12_chr10_67791669_67843188 | 67819699 | GAAGGAAG others(13): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0088 | 1 | 384 | 0.0026 | -20 | c.157 others(37): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
| DNAJC12_chr10_67791669_67843188 | 67830610 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 384 | 0.0026 | -20 | c.79- others(35): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| DNAJC1_chr10_21751548_22008730 | 21786451 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 164 | 0.0061 | -20 | c.109 others(41): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 9/11 | chr10 | TogoVar | ||||||
| DNAJC1_chr10_21751548_22008730 | 21813155 | TCTCTCTC others(13): Show |
T | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 164 | 0.0061 | -20 | c.979 others(37): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | ||||||
| DNAJC1_chr10_21751548_22008730 | 21813175 | CCTCTCTC others(13): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 164 | 0.0061 | -20 | c.979 others(37): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | ||||||
| DNAJC1_chr10_21751548_22008730 | 21813202 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 164 | 0.0061 | -20 | c.979 others(37): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | ||||||
| DNAJC1_chr10_21751548_22008730 | 21852092 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 164 | 0.0061 | -20 | c.978 others(39): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | ||||||
| DNAJC3_chr13_95672139_95799988 | 95764645 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG02129.hp2 NA19011.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276a0001c0001t0001g0279a0001c0001t0001g0290others(1): Show | 4 | 374 | 0.0107 | -20 | c.107 others(37): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| DNAJC6_chr1_65304543_65420871 | 65306972 | TTCTCTCT others(13): Show |
T | upstream_gene_variant | MODIFIER | HG02135.hp2 HG02630.hp2 NA18940.hp2 others(1): Show |
a0001a0002 | a0001c0003a0001c0005a0002c0002 | a0001c0003t0003a0001c0005t0004a0002c0002t0001 | a0001c0003t0003g0194a0001c0005t0004g0006a0002c0002t0001g0171others(1): Show | 4 | 326 | 0.0123 | -20 | c.-27 others(31): Show |
DNAJC6 | ENSG00000116675.16 | transcript | ENST00000371069.5 | protein_coding | 2570 | chr1 | TogoVar | ||||||
| DNAJC6_chr1_65304543_65420871 | 65307002 | CTCTCTCT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG02723.hp1 HG02922.hp1 NA19057.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0174a0002c0002t0001g0175a0002c0002t0001g0188 | 3 | 326 | 0.0092 | -20 | c.-27 others(31): Show |
DNAJC6 | ENSG00000116675.16 | transcript | ENST00000371069.5 | protein_coding | 2540 | chr1 | TogoVar | ||||||
| DNAJC7_chr17_41971435_42022439 | 41989767 | TAAACTAG others(13): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022a0001c0001t0002g0025 | 2 | 338 | 0.0059 | -20 | c.600 others(35): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 6/13 | chr17 | TogoVar | ||||||
| DNASE2B_chr1_84393484_84420018 | 84419611 | ACGCTGTA others(13): Show |
A | downstream_gene_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 426 | 0.0024 | -20 | c.*47 others(31): Show |
DNASE2B | ENSG00000137976.8 | transcript | ENST00000370665.4 | protein_coding | 4594 | chr1 | TogoVar | ||||||
| DNER_chr2_229352629_229719555 | 229387489 | AAGAAAGA others(13): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0162 | 1 | 176 | 0.0057 | -20 | c.185 others(37): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
| DNER_chr2_229352629_229719555 | 229388592 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 176 | 0.0057 | -20 | c.172 others(37): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 10/12 | chr2 | TogoVar | ||||||
| DNER_chr2_229352629_229719555 | 229508881 | AAAAAGAA others(13): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00621.hp1 others(48): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0021others(48): Show | 51 | 176 | 0.2898 | -20 | c.114 others(39): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 6/12 | chr2 | TogoVar | ||||||
| DNER_chr2_229352629_229719555 | 229554857 | AAAGAGAA others(13): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG02040.hp2 others(11): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0041a0001c0001t0001g0049a0001c0001t0001g0069others(11): Show | 14 | 176 | 0.0796 | -20 | c.848 others(37): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
| DNER_chr2_229352629_229719555 | 229668522 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 176 | 0.0057 | -20 | c.276 others(39): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| DNER_chr2_229352629_229719555 | 229668528 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 176 | 0.0057 | -20 | c.276 others(39): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| DNM1_chr9_128198379_128260244 | 128220885 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0056 | 1 | 350 | 0.0029 | -20 | c.849 others(35): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DNM2_chr19_10713079_10836903 | 10834542 | CTCTGCCT others(13): Show |
C | downstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 278 | 0.0036 | -20 | c.*34 others(31): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 2640 | chr19 | TogoVar | ||||||
| DNM3_chr1_171836498_172417717 | 171883363 | CCACACAC others(13): Show |
C | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 136 | 0.0074 | -20 | c.162 others(39): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNM3_chr1_171836498_172417717 | 171883395 | ACACACAC others(13): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0051a0001c0001t0002g0050 | 2 | 136 | 0.0147 | -20 | c.162 others(39): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNM3_chr1_171836498_172417717 | 171944339 | GTATTTAT others(13): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02809.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0011a0001c0002t0012 | a0001c0002t0001g0106a0001c0002t0001g0107a0001c0002t0011g0108others(1): Show | 4 | 136 | 0.0294 | -20 | c.235 others(39): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNM3_chr1_171836498_172417717 | 172253489 | TCTCTCCT others(13): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02615.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0013others(8): Show | a0001c0001t0002g0079a0001c0001t0002g0080a0001c0001t0008g0095others(14): Show | 17 | 136 | 0.1250 | -20 | c.166 others(35): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |