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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
APOBEC3A_chr22_38952609_38968184 | 38960470 | GTCCCTCC others(7707): Show |
G | exon_loss_variant | HIGH | HG01891.hp2 | a0000 | a0000c0007 | a0000c0007t0017 | a0000c0007t0017g0043 | 1 | 360 | 0.0028 | -7714 | c.174 others(13): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 3/5 | chr22 | TogoVar | ||||||
APOBEC3A_chr22_38952609_38968184 | 38960851 | CCATCAGG others(7326): Show |
C | exon_loss_variant | HIGH | HG02572.hp1 NA19085.hp2 |
a0000 | a0000c0007 | a0000c0007t0003 | a0000c0007t0003g0027 | 2 | 360 | 0.0056 | -7333 | c.175 others(13): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 3/5 | chr22 | TogoVar | ||||||
APOBEC3A_chr22_38952609_38968184 | 38962275 | GGCCTTGC others(5902): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00323.hp1 HG00423.hp2 HG00544.hp1 others(34): Show |
a0000 | a0000c0004a0000c0010 | a0000c0004t0003a0000c0010t0003 | a0000c0004t0003g0004a0000c0004t0003g0045a0000c0004t0003g0050others(2): Show | 37 | 360 | 0.1028 | -5909 | c.585 others(12): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
APOBEC3A_chr22_38952609_38968184 | 38962391 | TCCCTCCC others(5786): Show |
T | exon_loss_variant others(5): Show |
HIGH | NA19012.hp1 | a0000 | a0000c0004 | a0000c0004t0003 | a0000c0004t0003g0047 | 1 | 360 | 0.0028 | -5793 | c.586 others(13): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
APOL2_chr22_36221209_36244527 | 36239298 | CGGCTCTG others(622): Show |
C | splice_donor_variant others(4): Show |
HIGH | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0055 | 1 | 384 | 0.0026 | -629 | c.-62 others(13): Show |
APOL2 | ENSG00000128335.14 | transcript | ENST00000358502.10 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
ARHGEF38_chr4_105547620_105685914 | 105656685 | ATTATAGG others(5274): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02004.hp1 | a0007 | a0007c0019 | a0007c0019t0005 | a0007c0019t0005g0005 | 1 | 186 | 0.0054 | -5281 | c.123 others(18): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ATAT1_chr6_30621874_30651821 | 30636323 | ACCTGTAA others(6051): Show |
A | exon_loss_variant | HIGH | NA20129.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0164 | 1 | 405 | 0.0025 | -6058 | c.538 others(16): Show |
ATAT1 | ENSG00000137343.18 | transcript | ENST00000376485.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173031700 | TCCCAGCT others(6347): Show |
T | splice_acceptor_variant others(4): Show |
HIGH | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0072 | 1 | 292 | 0.0034 | -6354 | c.*37 others(14): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42480282 | CAGATGAT others(9892): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG01978.hp1 | a0005 | a0005c0010 | a0005c0010t0014 | a0005c0010t0014g0277 | 1 | 310 | 0.0032 | -9899 | c.215 others(19): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/37 | chr4 | TogoVar | ||||||
AZGP1_chr7_99961730_99981031 | 99967078 | GTCCTGCG others(2020): Show |
G | exon_loss_variant | HIGH | NA18952.hp2 NA18984.hp2 |
a0000 | a0000c0007 | a0000c0007t0001 | a0000c0007t0001g0091a0000c0007t0001g0092 | 2 | 432 | 0.0046 | -2027 | c.338 others(11): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 3/4 | 832/1181 | chr7 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74053659 | GGCCTCCC others(9771): Show |
G | exon_loss_variant | HIGH | HG02602.hp1 | a0000 | a0000c0018 | a0000c0018t0003 | a0000c0018t0003g0175 | 1 | 386 | 0.0026 | -9778 | c.128 others(19): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BPIFB2_chr20_33002704_33028703 | 33006981 | TCCTTGGG others(856): Show |
T | splice_donor_variant others(4): Show |
HIGH | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047 | 1 | 388 | 0.0026 | -863 | c.-81 others(11): Show |
BPIFB2 | ENSG00000078898.7 | transcript | ENST00000170150.4 | protein_coding | 1/16 | chr20 | TogoVar | ||||||
BPIFB3_chr20_33048903_33078847 | 33064598 | GATGCCGG others(10750): Show |
G | exon_loss_variant | HIGH | NA19010.hp2 | a0000 | a0000c0020 | a0000c0020t0003 | a0000c0020t0003g0074 | 1 | 374 | 0.0027 | -10757 | c.732 others(12): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 9/16 | chr20 | TogoVar | ||||||
BPIFB4_chr20_33074643_33116751 | 33094289 | GCCATCTC others(12734): Show |
G | exon_loss_variant | HIGH | NA19010.hp2 | a0015 | a0015c0018 | a0015c0018t0001 | a0015c0018t0001g0081 | 1 | 344 | 0.0029 | -12741 | c.134 others(17): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BSCL2_chr11_62685275_62712424 | 62700548 | GGAGAATC others(3331): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG01952.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0197 | 1 | 330 | 0.0030 | -3338 | c.405 others(17): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 3/11 | chr11 | TogoVar | ||||||
C12orf50_chr12_87975035_88034401 | 88029312 | TCTTAAAG others(192): Show |
T | splice_donor_variant others(4): Show |
HIGH | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 | 1 | 272 | 0.0037 | -199 | c.-28 others(12): Show |
C12orf50 | ENSG00000165805.10 | transcript | ENST00000298699.7 | protein_coding | 1/13 | chr12 | TogoVar | ||||||
C16orf89_chr16_5039122_5070956 | 5057216 | AACAGAGT others(4189): Show |
A | exon_loss_variant | HIGH | HG01255.hp1 NA18612.hp2 NA18945.hp2 others(7): Show |
a0003 | a0003c0004a0003c0007 | a0003c0004t0001a0003c0007t0001 | a0003c0004t0001g0027a0003c0004t0001g0131a0003c0004t0001g0141others(6): Show | 10 | 432 | 0.0232 | -4196 | c.359 others(16): Show |
C16orf89 | ENSG00000153446.16 | transcript | ENST00000472572.8 | protein_coding | 4/8 | chr16 | TogoVar | ||||||
C22orf31_chr22_29053672_29066831 | 29061463 | TCCATGTT others(3582): Show |
T | exon_loss_variant others(1): Show |
HIGH | HG02647.hp2 | a0003 | a0003c0012 | a0003c0012t0002 | a0003c0012t0002g0130 | 1 | 472 | 0.0021 | -3589 | c.-32 others(11): Show |
C22orf31 | ENSG00000100249.5 | transcript | ENST00000216071.5 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
C2orf74_chr2_61157188_61169828 | 61163476 | CGCCTGTA others(4484): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG03195.hp1 | a0000 | a0000c0004 | a0000c0004t0004 | a0000c0004t0004g0015 | 1 | 422 | 0.0024 | -4491 | c.390 others(13): Show |
C2orf74 | ENSG00000237651.8 | transcript | ENST00000432605.3 | protein_coding | 5/5 | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73783350 | GATTCAAG others(4884): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG01167.hp1 HG02258.hp1 HG02280.hp2 others(3): Show |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0001a0003c0002t0002g0021 | 6 | 212 | 0.0283 | -4891 | c.-95 others(12): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
C3orf84_chr3_49172634_49196858 | 49188964 | ATTTTTTT others(1699): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG03942.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0127 | 1 | 306 | 0.0033 | -1706 | c.28- others(15): Show |
C3orf84 | ENSG00000236980.10 | transcript | ENST00000545770.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8951973 | CCACGCCC others(5462): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG03239.hp1 | a0013 | a0013c0033 | a0013c0033t0001 | a0013c0033t0001g0116 | 1 | 452 | 0.0022 | -5469 | c.259 others(16): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CABYR_chr18_24134062_24166600 | 24155644 | TTCTTCTC others(685): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG01934.hp1 | a0007 | a0007c0030 | a0007c0030t0001 | a0007c0030t0001g0121 | 1 | 408 | 0.0025 | -692 | c.200 others(14): Show |
CABYR | ENSG00000154040.21 | transcript | ENST00000399496.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44162359 | TTGAATAA others(21444): Show |
T | exon_loss_variant | HIGH | NA18747.hp2 | a0000 | a0000c0024 | a0000c0024t0001 | a0000c0024t0001g0025 | 1 | 460 | 0.0022 | -21451 | c.16+ others(15): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 2/23 | chr6 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735986 | GGTTCTGG others(786): Show |
G | exon_loss_variant | HIGH | HG02074.hp2 | a0016 | a0016c0025 | a0016c0025t0001 | a0016c0025t0001g0134 | 1 | 342 | 0.0029 | -793 | c.136 others(17): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/21 | chr19 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48249131 | AGGTTGCA others(5998): Show |
A | exon_loss_variant | HIGH | NA18977.hp1 NA19001.hp2 |
a0001 | a0001c0004 | a0001c0004t0025 | a0001c0004t0025g0158a0001c0004t0025g0159 | 2 | 362 | 0.0055 | -6005 | c.-25 others(16): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 3/14 | chr19 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 409154 | GAGATCAC others(786): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG01891.hp1 HG02145.hp2 HG02809.hp1 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0011a0006c0006t0012 | a0006c0006t0011g0103a0006c0006t0011g0106a0006c0006t0012g0104others(1): Show | 4 | 432 | 0.0093 | -793 | c.-16 others(14): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CD200R1L_chr3_112810711_112851864 | 112837703 | GAAGGTGC others(534): Show |
G | splice_acceptor_variant others(5): Show |
HIGH | HG01106.hp1 HG02723.hp2 HG02976.hp2 others(4): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0004a0004c0005t0004 | a0002c0003t0004g0136a0004c0005t0004g0014a0004c0005t0004g0135 | 7 | 408 | 0.0172 | -541 | c.-86 others(15): Show |
CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 3/8 | chr3 | TogoVar | ||||||
CDH19_chr18_66496083_66609090 | 66543238 | AGGATGGT others(4633): Show |
A | exon_loss_variant | HIGH | HG00099.hp2 | a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0331 | 1 | 354 | 0.0028 | -4640 | c.776 others(17): Show |
CDH19 | ENSG00000071991.9 | transcript | ENST00000262150.7 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
CELA2A_chr1_15451732_15477091 | 15466992 | GGAACCAG others(10092): Show |
G | exon_loss_variant | HIGH | NA18981.hp2 | a0000 | a0000c0010 | a0000c0010t0002 | a0000c0010t0002g0124 | 1 | 430 | 0.0023 | -10099 | c.640 others(13): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
CELA3B_chr1_21972022_21994354 | 21986630 | AGGAAGCC others(7717): Show |
A | exon_loss_variant | HIGH | HG01243.hp1 HG02257.hp2 HG03098.hp1 others(2): Show |
a0000 | a0000c0005 | a0000c0005t0002 | a0000c0005t0002g0046a0000c0005t0002g0167a0000c0005t0002g0168others(1): Show | 5 | 444 | 0.0113 | -7724 | c.743 others(9): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 8/8 | 761/906 | chr1 | TogoVar | |||||
CELA3B_chr1_21972022_21994354 | 21989153 | TCCTCTCC others(5194): Show |
T | exon_loss_variant others(5): Show |
HIGH | HG01517.hp1 | a0000 | a0000c0018 | a0000c0018t0002 | a0000c0018t0002g0173 | 1 | 444 | 0.0023 | -5201 | c.796 others(13): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CELA3B_chr1_21972022_21994354 | 21989262 | ACCATAGC others(5085): Show |
A | stop_lost others(4): Show |
HIGH | HG01515.hp2 | a0000 | a0000c0019 | a0000c0019t0002 | a0000c0019t0002g0174 | 1 | 444 | 0.0023 | -5092 | c.799 others(9): Show |
p.Ile others(13): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 8/8 | 817/906 | 799/813 | 267/270 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
CFAP107_chr1_12741200_12768699 | 12745321 | CTTTCTCT others(1738): Show |
C | exon_loss_variant others(1): Show |
HIGH | HG02896.hp2 | a0008 | a0008c0010 | a0008c0010t0049 | a0008c0010t0049g0120 | 1 | 336 | 0.0030 | -1745 | c.-11 others(13): Show |
CFAP107 | ENSG00000157330.10 | transcript | ENST00000614859.5 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128944223 | GCACCTGG others(2064): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG03239.hp2 | a0009 | a0009c0026 | a0009c0026t0001 | a0009c0026t0001g0296 | 1 | 342 | 0.0029 | -2071 | c.135 others(17): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 10/16 | chr3 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75397156 | TGCCCGCC others(21388): Show |
T | exon_loss_variant | HIGH | HG01515.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0006 | 1 | 314 | 0.0032 | -21395 | c.65- others(16): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 4/7 | chr16 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26627767 | CACCCCTC others(2539): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG02083.hp2 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0151 | 1 | 344 | 0.0029 | -2546 | c.90- others(15): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/7 | chr2 | TogoVar | ||||||
CIDEC_chr3_9861714_9885253 | 9879423 | TGGCCTCC others(5823): Show |
T | splice_donor_variant others(4): Show |
HIGH | NA18943.hp2 NA18973.hp2 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0048a0001c0003t0005g0049 | 2 | 410 | 0.0049 | -5830 | c.-51 others(14): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14585083 | TCCTTTCA others(4254): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG02109.hp2 | a0009 | a0009c0004 | a0009c0004t0002 | a0009c0004t0002g0084 | 1 | 364 | 0.0028 | -4261 | c.121 others(17): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CLEC17A_chr19_14578084_14617035 | 14585489 | TGACTCAG others(4256): Show |
T | exon_loss_variant others(4): Show |
HIGH | NA19063.hp1 | a0005 | a0005c0008 | a0005c0008t0003 | a0005c0008t0003g0123 | 1 | 364 | 0.0028 | -4263 | c.122 others(17): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CLEC18B_chr16_74403631_74426478 | 74416618 | GCCACCTT others(6286): Show |
G | exon_loss_variant | HIGH | HG00597.hp1 | a0015 | a0015c0023 | a0015c0023t0012 | a0015c0023t0012g0044 | 1 | 287 | 0.0035 | -6293 | c.-16 others(14): Show |
CLEC18B | ENSG00000140839.13 | transcript | ENST00000682950.1 | protein_coding | 3/12 | chr16 | TogoVar | ||||||
CLTCL1_chr22_19174473_19296719 | 19270517 | AGAGATCG others(26195): Show |
A | exon_loss_variant | HIGH | NA18999.hp2 | a0024 | a0024c0034 | a0024c0034t0014 | a0024c0034t0014g0341 | 1 | 346 | 0.0029 | -26202 | c.-50 others(14): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 2/33 | chr22 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103022374 | CCCAGGCA others(4463): Show |
C | exon_loss_variant | HIGH | NA19043.hp2 | a0009 | a0009c0029 | a0009c0029t0004 | a0009c0029t0004g0043 | 1 | 184 | 0.0054 | -4470 | c.781 others(16): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 8/67 | chr1 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178263111 | TGCACTAG others(1361): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG00639.hp1 | a0013 | a0013c0010 | a0013c0010t0002 | a0013c0010t0002g0117 | 1 | 236 | 0.0042 | -1368 | c.523 others(15): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 9/29 | chr5 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130413180 | CTCCCATG others(873): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00642.hp2 HG01515.hp1 |
a0027 | a0027c0089a0027c0090 | a0027c0089t0002a0027c0090t0002 | a0027c0089t0002g0200a0027c0090t0002g0280 | 2 | 292 | 0.0069 | -880 | c.466 others(15): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 21/41 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CPPED1_chr16_12654799_12808887 | 12697915 | CAGCCTGG others(17541): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG01978.hp1 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0181 | 1 | 290 | 0.0035 | -17548 | c.290 others(18): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 3/4 | chr16 | TogoVar | ||||||
CPVL_chr7_28990235_29151537 | 29029404 | GTGTCCAT others(10905): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG02129.hp2 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0207 | 1 | 282 | 0.0036 | -10912 | c.113 others(19): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 12/13 | chr7 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207526330 | AGACATGG others(18548): Show |
A | exon_loss_variant | HIGH | HG01109.hp1 HG02109.hp1 HG02145.hp1 others(2): Show |
a0014a0043 | a0014c0020a0014c0077a0043c0059 | a0014c0020t0002a0014c0077t0002a0043c0059t0017 | a0014c0020t0002g0020a0014c0020t0002g0057a0014c0020t0002g0133others(2): Show | 5 | 360 | 0.0139 | -18555 | c.887 others(16): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1_chr1_207491157_207646765 | 207526605 | TGTGTATT others(18548): Show |
T | exon_loss_variant | HIGH | HG01255.hp1 HG01943.hp1 HG01981.hp2 others(6): Show |
a0001a0012 | a0001c0001a0012c0013 | a0001c0001t0002a0012c0013t0001a0012c0013t0002others(2): Show | a0001c0001t0002g0240a0001c0001t0002g0245a0001c0001t0002g0321others(6): Show | 9 | 360 | 0.0250 | -18555 | c.887 others(14): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1_chr1_207491157_207646765 | 207526667 | TGTAATTA others(18548): Show |
T | exon_loss_variant | HIGH | HG03471.hp2 | a0027 | a0027c0056 | a0027c0056t0002 | a0027c0056t0002g0159 | 1 | 360 | 0.0028 | -18555 | c.954 others(8): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 7/47 | 1065/9937 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |