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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH8_chr6_38710311_39035792 | 38944100 | A | AAACAACC others(6): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01256.hp1 HG01358.hp2 others(21): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0134a0003c0002others(10): Show | a0001c0001t0001a0002c0134t0001a0003c0002t0001others(10): Show | a0001c0001t0001g0260a0002c0134t0001g0069a0003c0002t0001g0017others(21): Show | 24 | 284 | 0.0845 | 13 | c.120 others(34): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 79/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11605674 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02922.hp2 HG02976.hp2 others(3): Show |
a0009a0017a0026others(3): Show | a0009c0018a0017c0021a0026c0095others(3): Show | a0009c0018t0001a0017c0021t0001a0026c0095t0001others(3): Show | a0009c0018t0001g0004a0017c0021t0001g0003a0026c0095t0001g0044others(3): Show | 6 | 178 | 0.0337 | 13 | c.418 others(30): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 1/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11654355 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18986.hp1 NA18986.hp2 |
a0001a0007 | a0001c0002a0007c0062 | a0001c0002t0001a0007c0062t0001 | a0001c0002t0001g0145a0007c0062t0001g0117 | 2 | 178 | 0.0112 | 13 | c.259 others(32): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 14/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11762766 | T | TGTTGTTT others(6): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0117 | a0001c0117t0001 | a0001c0117t0001g0027 | 1 | 178 | 0.0056 | 13 | c.699 others(30): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 35/68 | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11762776 | T | TTTGTTTT others(6): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0005 | a0005c0131 | a0005c0131t0001 | a0005c0131t0001g0177 | 1 | 178 | 0.0056 | 13 | c.699 others(30): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 35/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11900503 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0064 | a0064c0092 | a0064c0092t0001 | a0064c0092t0001g0163 | 1 | 178 | 0.0056 | 13 | c.114 others(34): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 59/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11926035 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03139.hp2 HG04204.hp1 others(2): Show |
a0001a0002a0068others(1): Show | a0001c0001a0002c0005a0068c0138others(1): Show | a0001c0001t0001a0002c0005t0001a0068c0138t0001others(1): Show | a0001c0001t0001g0082a0001c0001t0001g0088a0002c0005t0001g0077others(2): Show | 5 | 178 | 0.0281 | 13 | c.118 others(34): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 62/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11960435 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0149 | 1 | 178 | 0.0056 | 13 | c.128 others(34): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 67/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAI1_chr9_34453805_34525984 | 34492535 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 382 | 0.0026 | 13 | c.682 others(28): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 8/19 | chr9 | TogoVar | ||||||
DNAI2_chr17_74269234_74319884 | 74295233 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0351 | 1 | 398 | 0.0025 | 13 | c.724 others(30): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAI2_chr17_74269234_74319884 | 74298072 | C | CTCTAAAA others(6): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 398 | 0.0025 | 13 | c.725 others(30): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAI2_chr17_74269234_74319884 | 74304161 | C | CTTTTCTT others(6): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03486.hp2 |
a0004 | a0004c0018 | a0004c0018t0002a0004c0018t0003 | a0004c0018t0002g0208a0004c0018t0003g0255 | 2 | 398 | 0.0050 | 13 | c.988 others(30): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAI4_chr1_66807885_66929856 | 66872217 | A | ATTTATTT others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01934.hp1 HG02717.hp1 others(2): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0003a0002c0004t0001 | a0002c0002t0001g0003a0002c0002t0001g0013a0002c0002t0001g0186others(2): Show | 5 | 264 | 0.0189 | 13 | c.801 others(28): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 5/16 | chr1 | TogoVar | ||||||
DNAI4_chr1_66807885_66929856 | 66892972 | A | AGAAAGAG others(6): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0262 | 1 | 264 | 0.0038 | 13 | c.530 others(28): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 3/16 | chr1 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25108825 | T | TAAAAAAA others(6): Show |
splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG01109.hp1 HG01167.hp2 others(33): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0222a0001c0001t0001g0223a0001c0001t0001g0224others(33): Show | 36 | 336 | 0.1071 | 13 | c.189 others(27): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 15/15 | chr12 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25174371 | G | GATATATA others(6): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0010 | a0010c0013 | a0010c0013t0002 | a0010c0013t0002g0024 | 1 | 336 | 0.0030 | 13 | c.22- others(30): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25174371 | G | GATATATA others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01099.hp1 others(15): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0010 | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(1): Show | a0001c0001t0001g0324a0001c0001t0002g0004a0001c0001t0002g0005others(15): Show | 18 | 336 | 0.0536 | 13 | c.22- others(30): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25174389 | G | GATATATA others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(14): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(14): Show | 17 | 336 | 0.0506 | 13 | c.22- others(30): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25174573 | G | GATATATA others(6): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG03225.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0325a0001c0001t0003g0167a0001c0001t0003g0170others(3): Show | 6 | 336 | 0.0179 | 13 | c.22- others(30): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
DNAJA2_chr16_46950362_46978674 | 46970730 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02615.hp1 NA18940.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0100a0001c0001t0001g0157others(1): Show | 5 | 280 | 0.0179 | 13 | c.362 others(28): Show |
DNAJA2 | ENSG00000069345.12 | transcript | ENST00000317089.10 | protein_coding | 3/8 | chr16 | TogoVar | ||||||
DNAJA3_chr16_4420868_4461775 | 4458224 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01109.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(4): Show | a0001c0001t0001g0041a0001c0001t0002g0015a0001c0001t0002g0137others(12): Show | 16 | 345 | 0.0464 | 13 | c.*26 others(24): Show |
DNAJA3 | ENSG00000103423.14 | transcript | ENST00000262375.11 | protein_coding | 1450 | chr16 | TogoVar | ||||||
DNAJB11_chr3_186565720_186590793 | 186584622 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02040.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096a0001c0001t0001g0102 | 2 | 370 | 0.0054 | 13 | c.101 others(28): Show |
DNAJB11 | ENSG00000090520.12 | transcript | ENST00000265028.8 | protein_coding | 9/9 | chr3 | TogoVar | ||||||
DNAJB13_chr11_73946026_73975281 | 73973464 | T | TAGATCGC others(6): Show |
downstream_gene_variant | MODIFIER | NA18967.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0112 | 1 | 436 | 0.0023 | 13 | c.*33 others(24): Show |
DNAJB13 | ENSG00000187726.9 | transcript | ENST00000339764.6 | protein_coding | 3184 | chr11 | TogoVar | ||||||
DNAJB14_chr4_99891248_99951618 | 99938097 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0034 | 1 | 336 | 0.0030 | 13 | c.134 others(30): Show |
DNAJB14 | ENSG00000164031.17 | transcript | ENST00000442697.7 | protein_coding | 1/7 | chr4 | TogoVar | ||||||
DNAJB4_chr1_77999939_78022964 | 78012154 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18612.hp2 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 2 | 424 | 0.0047 | 13 | c.212 others(28): Show |
DNAJB4 | ENSG00000162616.9 | transcript | ENST00000370763.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAJB5_chr9_34984745_35003428 | 34986086 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 450 | 0.0022 | 13 | c.-38 others(24): Show |
DNAJB5 | ENSG00000137094.16 | transcript | ENST00000682809.1 | protein_coding | 3658 | chr9 | TogoVar | ||||||
DNAJB6_chr7_157332004_157422439 | 157357321 | T | TTTTTTTG others(6): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02280.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014 | a0001c0001t0001g0149a0001c0001t0001g0184a0001c0001t0001g0185others(4): Show | 7 | 372 | 0.0188 | 13 | c.-26 others(30): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 1/9 | chr7 | TogoVar | ||||||
DNAJB6_chr7_157332004_157422439 | 157377504 | G | GAAACGTG others(6): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149a0001c0001t0001g0184a0001c0001t0001g0185 | 3 | 372 | 0.0081 | 13 | c.347 others(30): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAJC12_chr10_67791669_67843188 | 67834704 | A | ATAATCCC others(6): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0313 | 1 | 384 | 0.0026 | 13 | c.78+ others(28): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
DNAJC13_chr3_132412502_132544032 | 132417558 | A | AGAGGCAG others(6): Show |
5_prime_UTR_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0009 | a0009c0011 | a0009c0011t0006 | a0009c0011t0006g0129a0009c0011t0006g0130 | 2 | 318 | 0.0063 | 13 | c.-21 others(22): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 1/56 | 16974 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
DNAJC17_chr15_40760161_40812473 | 40766942 | C | CCATGGTC others(6): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0102 | 1 | 358 | 0.0028 | 13 | c.*99 others(22): Show |
DNAJC17 | ENSG00000104129.10 | transcript | ENST00000220496.9 | protein_coding | 11/11 | 997 | chr15 | TogoVar | |||||
DNAJC17_chr15_40760161_40812473 | 40803074 | C | CGTGGGTA others(6): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 358 | 0.0028 | 13 | c.78+ others(28): Show |
DNAJC17 | ENSG00000104129.10 | transcript | ENST00000220496.9 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
DNAJC18_chr5_139405203_139444525 | 139435730 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02040.hp2 NA18944.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007 | a0001c0002t0002g0006a0001c0002t0002g0204a0001c0002t0002g0243others(3): Show | 9 | 314 | 0.0287 | 13 | c.227 others(30): Show |
DNAJC18 | ENSG00000170464.10 | transcript | ENST00000302060.10 | protein_coding | 2/7 | chr5 | TogoVar | ||||||
DNAJC1_chr10_21751548_22008730 | 21826237 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00735.hp1 others(75): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0014others(75): Show | 78 | 164 | 0.4756 | 13 | c.979 others(32): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | ||||||
DNAJC3_chr13_95672139_95799988 | 95704851 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02723.hp2 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015a0001c0001t0038 | a0001c0001t0004g0266a0001c0001t0015g0227a0001c0001t0038g0374 | 3 | 374 | 0.0080 | 13 | c.83- others(28): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC3_chr13_95672139_95799988 | 95722815 | G | GCCCCCCC others(6): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 374 | 0.0027 | 13 | c.194 others(28): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC3_chr13_95672139_95799988 | 95767691 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0362 | 1 | 374 | 0.0027 | 13 | c.107 others(32): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC3_chr13_95672139_95799988 | 95791643 | C | CCAGGCTT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0342 | 1 | 374 | 0.0027 | 13 | c.*61 others(22): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 12/12 | 627 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
DNAJC4_chr11_64225548_64239281 | 64237123 | G | GAGAGAGA others(6): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 338 | 0.0030 | 13 | c.*29 others(24): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2843 | chr11 | TogoVar | ||||||
DNAJC5_chr20_63890126_63941011 | 63916295 | T | TCCATAAG others(6): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 372 | 0.0027 | 13 | c.-11 others(32): Show |
DNAJC5 | ENSG00000101152.12 | transcript | ENST00000360864.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DNAJC6_chr1_65304543_65420871 | 65397272 | G | GATTGCCC others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp2 others(100): Show |
a0002a0003a0005others(4): Show | a0002c0002a0002c0014a0003c0007others(5): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(21): Show | a0002c0002t0001g0020a0002c0002t0001g0026a0002c0002t0001g0041others(99): Show | 103 | 326 | 0.3160 | 13 | c.203 others(32): Show |
DNAJC6 | ENSG00000116675.16 | transcript | ENST00000371069.5 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAJC7_chr17_41971435_42022439 | 41986047 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00741.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0014a0001c0001t0001g0017others(23): Show | 30 | 338 | 0.0888 | 13 | c.101 others(32): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 9/13 | chr17 | TogoVar | ||||||
DNAJC7_chr17_41971435_42022439 | 42006796 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051a0001c0001t0002g0052 | 2 | 338 | 0.0059 | 13 | c.78- others(28): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
DNAJC8_chr1_28195278_28238029 | 28212215 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 250 | 0.0040 | 13 | c.238 others(30): Show |
DNAJC8 | ENSG00000126698.11 | transcript | ENST00000263697.6 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73681631 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0139 | 1 | 340 | 0.0029 | 13 | c.265 others(30): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73681633 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03195.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009a0001c0001t0085 | a0001c0001t0008g0128a0001c0001t0009g0111a0001c0001t0085g0125 | 3 | 340 | 0.0088 | 13 | c.265 others(30): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DNASE1L3_chr3_58187257_58215972 | 58202852 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02897.hp1 HG02970.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0220a0001c0001t0001g0292a0001c0001t0004g0221others(1): Show | 4 | 372 | 0.0108 | 13 | c.434 others(30): Show |
DNASE1L3 | ENSG00000163687.14 | transcript | ENST00000394549.7 | protein_coding | 4/7 | chr3 | TogoVar | ||||||
DNASE1_chr16_3649691_3663095 | 3653806 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 NA18950.hp1 NA19062.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002a0002c0002t0001g0001 | 3 | 440 | 0.0068 | 13 | c.-12 others(24): Show |
DNASE1 | ENSG00000213918.11 | transcript | ENST00000246949.10 | protein_coding | 884 | chr16 | TogoVar | ||||||
DNASE1_chr16_3649691_3663095 | 3658429 | T | TTTTTAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0001 | 1 | 440 | 0.0023 | 13 | c.*47 others(22): Show |
DNASE1 | ENSG00000213918.11 | transcript | ENST00000246949.10 | protein_coding | 335 | chr16 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229397463 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02056.hp2 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0041a0001c0001t0001g0074others(6): Show | 9 | 176 | 0.0511 | 13 | c.172 others(32): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 10/12 | chr2 | TogoVar |