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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL9A3_chr20_62812050_62846159 | 62835114 | CCTGGCCT others(15): Show |
C | intron_variant | MODIFIER | NA18985.hp2 | a0019 | a0019c0038 | a0019c0038t0001 | a0019c0038t0001g0117 | 1 | 412 | 0.0024 | -22 | c.136 others(39): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 26/31 | chr20 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119069619 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 388 | 0.0026 | -22 | c.148 others(39): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119078990 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00558.hp1 others(40): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0072a0001c0001t0001g0163others(39): Show | 43 | 388 | 0.1108 | -22 | c.149 others(41): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 321981 | TGCAGAGT others(15): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0001 | a0002c0001t0195 | a0002c0001t0195g0140 | 1 | 366 | 0.0027 | -22 | c.206 others(39): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 8/9 | chr18 | TogoVar | ||||||
COLQ_chr3_15445133_15526706 | 15509232 | GGCCTGGT others(15): Show |
G | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089 | 1 | 382 | 0.0026 | -22 | c.106 others(41): Show |
COLQ | ENSG00000206561.14 | transcript | ENST00000383788.10 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 62003605 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 286 | 0.0035 | -22 | c.462 others(39): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD6_chr13_75520214_75542841 | 75524456 | CAAAAAAA others(15): Show |
C | downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 396 | 0.0025 | -22 | c.*21 others(33): Show |
COMMD6 | ENSG00000188243.14 | transcript | ENST00000682242.1 | protein_coding | 757 | chr13 | TogoVar | ||||||
COMP_chr19_18777773_18796305 | 18787872 | TTCTTTCT others(15): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01074.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0031a0001c0001t0001g0093others(8): Show | 16 | 398 | 0.0402 | -22 | c.976 others(37): Show |
COMP | ENSG00000105664.11 | transcript | ENST00000222271.7 | protein_coding | 9/18 | chr19 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130513304 | AAAAAATA others(15): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 326 | 0.0031 | -22 | c.215 others(41): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130513353 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00621.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027a0001c0001t0002g0148a0001c0001t0002g0160others(13): Show | 16 | 326 | 0.0491 | -22 | c.215 others(41): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | ||||||
COPS5_chr8_67038079_67067133 | 67041968 | TACACACA others(15): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0204 | 1 | 292 | 0.0034 | -22 | c.*12 others(33): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 1110 | chr8 | TogoVar | ||||||
COPS5_chr8_67038079_67067133 | 67056650 | AAAATATA others(15): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01515.hp1 HG01515.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0076others(4): Show | 7 | 292 | 0.0240 | -22 | c.574 others(35): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
COPS5_chr8_67038079_67067133 | 67056652 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG02109.hp1 HG02486.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0107a0001c0001t0001g0108others(5): Show | 8 | 292 | 0.0274 | -22 | c.574 others(35): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
COPZ1_chr12_54320131_54356846 | 54339980 | CGTGTGTG others(15): Show |
C | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 368 | 0.0027 | -22 | c.19- others(35): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
COQ3_chr6_99364401_99399195 | 99378105 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | NA18940.hp2 NA18999.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0051a0001c0001t0001g0174a0001c0001t0002g0319 | 3 | 434 | 0.0069 | -22 | c.387 others(37): Show |
COQ3 | ENSG00000132423.12 | transcript | ENST00000254759.8 | protein_coding | 3/6 | chr6 | TogoVar | ||||||
COQ3_chr6_99364401_99399195 | 99378139 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01069.hp2 others(31): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0009a0002c0002t0001g0010a0002c0002t0001g0014others(24): Show | 34 | 434 | 0.0783 | -22 | c.387 others(37): Show |
COQ3 | ENSG00000132423.12 | transcript | ENST00000254759.8 | protein_coding | 3/6 | chr6 | TogoVar | ||||||
COQ3_chr6_99364401_99399195 | 99378141 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 434 | 0.0023 | -22 | c.387 others(37): Show |
COQ3 | ENSG00000132423.12 | transcript | ENST00000254759.8 | protein_coding | 3/6 | chr6 | TogoVar | ||||||
COQ8A_chr1_226935294_226992544 | 226944728 | AGAGAGAG others(15): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00673.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0025a0001c0001t0001g0228a0001c0001t0001g0233others(20): Show | 26 | 412 | 0.0631 | -22 | c.-10 others(39): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CORO2A_chr9_98115975_98197637 | 98119786 | TTTTGTTT others(15): Show |
T | downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0125 | 1 | 342 | 0.0029 | -22 | c.*49 others(33): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1188 | chr9 | TogoVar | ||||||
CORO2B_chr15_68573993_68732806 | 68587047 | TATACACA others(15): Show |
T | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0084 | 1 | 256 | 0.0039 | -22 | c.15+ others(37): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CORO2B_chr15_68573993_68732806 | 68650355 | CTAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00621.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0037a0001c0001t0001g0067a0001c0001t0001g0086others(33): Show | 36 | 256 | 0.1406 | -22 | c.216 others(39): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
CORO7_chr16_4349542_4421596 | 4360866 | TCACTGCT others(15): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(113): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0014a0001c0023others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0014t0001others(6): Show | a0001c0002t0001g0019a0001c0002t0001g0027a0001c0002t0001g0030others(106): Show | 116 | 297 | 0.3906 | -22 | c.191 others(37): Show |
CORO7 | ENSG00000262246.6 | transcript | ENST00000251166.9 | protein_coding | 19/27 | chr16 | TogoVar | ||||||
CORO7_chr16_4349542_4421596 | 4360880 | ACCTCTCC others(15): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 297 | 0.0034 | -22 | c.191 others(37): Show |
CORO7 | ENSG00000262246.6 | transcript | ENST00000251166.9 | protein_coding | 19/27 | chr16 | TogoVar | ||||||
COTL1_chr16_84560596_84623078 | 84578906 | CACATGCA others(15): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01243.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0055a0001c0001t0001g0057a0001c0001t0001g0058others(48): Show | 52 | 440 | 0.1182 | -22 | c.318 others(41): Show |
COTL1 | ENSG00000103187.8 | transcript | ENST00000262428.5 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
COX10_chr17_14064504_14213677 | 14151526 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG02056.hp2 NA18957.hp2 NA18970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001a0001c0001t0003g0142a0001c0001t0003g0165 | 4 | 322 | 0.0124 | -22 | c.625 others(39): Show |
COX10 | ENSG00000006695.12 | transcript | ENST00000261643.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
COX10_chr17_14064504_14213677 | 14210395 | CTTTTTTT others(15): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG03540.hp1 HG03927.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0003a0001c0003t0001a0001c0004t0002others(7): Show | a0001c0001t0003g0136a0001c0003t0001g0151a0001c0004t0002g0164others(7): Show | 10 | 322 | 0.0311 | -22 | c.*31 others(33): Show |
COX10 | ENSG00000006695.12 | transcript | ENST00000261643.8 | protein_coding | 1719 | chr17 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46759807 | TTATATAA others(15): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(118): Show |
a0000a0001a0002 | a0000c0002a0001c0001a0002c0003 | a0000c0002t0003a0001c0001t0001a0001c0001t0002others(5): Show | a0000c0002t0003g0233a0001c0001t0001g0002a0001c0001t0001g0097others(116): Show | 121 | 300 | 0.4033 | -22 | c.-49 others(41): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
CPA3_chr3_148860296_148902203 | 148899547 | CAAAAAAA others(15): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0020 | 2 | 400 | 0.0050 | -22 | c.*28 others(33): Show |
CPA3 | ENSG00000163751.4 | transcript | ENST00000296046.4 | protein_coding | 2345 | chr3 | TogoVar | ||||||
CPB1_chr3_148822811_148865187 | 148846797 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0344 | 1 | 456 | 0.0022 | -22 | c.981 others(39): Show |
CPB1 | ENSG00000153002.12 | transcript | ENST00000282957.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CPD_chr17_30373927_30474989 | 30470238 | CGTGTATG others(15): Show |
C | downstream_gene_variant | MODIFIER | HG02735.hp1 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165a0001c0001t0002g0186 | 2 | 296 | 0.0068 | -22 | c.*54 others(33): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 250 | chr17 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82579918 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0036 | a0001c0001t0010g0200a0001c0001t0010g0227a0001c0001t0036g0083 | 3 | 354 | 0.0085 | -22 | c.272 others(39): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB2_chr4_14997481_15075151 | 15051529 | CCTCACTA others(15): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG02165.hp1 NA18980.hp1 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0006a0004c0004t0024 | a0004c0004t0006g0016a0004c0004t0006g0045a0004c0004t0024g0053 | 4 | 288 | 0.0139 | -22 | c.220 others(39): Show |
CPEB2 | ENSG00000137449.17 | transcript | ENST00000538197.7 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPEB3_chr10_92041692_92296078 | 92115359 | GGTCAGGA others(15): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00738.hp2 others(66): Show |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(9): Show | a0001c0002t0002g0001a0001c0002t0002g0008a0001c0002t0002g0016others(65): Show | 69 | 278 | 0.2482 | -22 | c.145 others(41): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 6/9 | chr10 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92258625 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0197 | 1 | 278 | 0.0036 | -22 | c.-11 others(41): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121129291 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01099.hp1 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0085a0001c0001t0001g0094a0001c0001t0001g0099others(33): Show | 36 | 140 | 0.2571 | -22 | c.140 others(39): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPHXL_chr16_75709131_75731490 | 75723869 | AACCAAAA others(15): Show |
A | intron_variant | MODIFIER | HG04204.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0160 | 2 | 388 | 0.0052 | -22 | c.25+ others(37): Show |
CPHXL | ENSG00000283755.2 | transcript | ENST00000640559.2 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CPLANE1_chr5_37101235_37254376 | 37245297 | CTATATAT others(15): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG01515.hp1 others(8): Show |
a0001a0009a0010 | a0001c0001a0009c0012a0009c0044others(3): Show | a0001c0001t0001a0009c0012t0005a0009c0044t0005others(3): Show | a0001c0001t0001g0172a0009c0012t0005g0263a0009c0012t0005g0264others(8): Show | 11 | 268 | 0.0410 | -22 | c.337 others(37): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 4/52 | chr5 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 822090 | CCTCTGTC others(15): Show |
C | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0035 | 1 | 416 | 0.0024 | -22 | c.31+ others(37): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131547455 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01169.hp1 HG01884.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0005t0001a0001c0005t0004others(2): Show | a0001c0001t0001g0056a0001c0005t0001g0012a0001c0005t0004g0024others(3): Show | 6 | 94 | 0.0638 | -22 | c.130 others(41): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 14/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131615907 | ACACACAC others(15): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 94 | 0.0106 | -22 | c.682 others(41): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 7/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131708957 | GATATATA others(15): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0012a0001c0003t0001 | a0001c0001t0001g0010a0001c0001t0001g0021a0001c0002t0012g0025others(1): Show | 4 | 94 | 0.0426 | -22 | c.361 others(39): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131717882 | CTTTCTTT others(15): Show |
C | intron_variant | MODIFIER | HG03239.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0052a0001c0001t0002g0083 | 2 | 94 | 0.0213 | -22 | c.360 others(39): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131942459 | TGTGTGAG others(15): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 94 | 0.0106 | -22 | c.-1- others(39): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131942463 | TGAGAGAG others(15): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG03225.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(2): Show | a0001c0001t0001g0056a0001c0001t0001g0058a0001c0001t0011g0093others(3): Show | 6 | 94 | 0.0638 | -22 | c.-1- others(39): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38894658 | ACTCTCTC others(15): Show |
A | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0220 | 1 | 342 | 0.0029 | -22 | c.98+ others(39): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96717024 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01255.hp1 HG01943.hp1 others(2): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0002a0006c0010t0001 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0063others(2): Show | 5 | 126 | 0.0397 | -22 | c.-34 others(41): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96773218 | ATAAATAT others(15): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0043 | 1 | 126 | 0.0079 | -22 | c.-34 others(41): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96777744 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01255.hp1 HG01516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017a0001c0001t0001g0031a0001c0001t0001g0035others(2): Show | 5 | 126 | 0.0397 | -22 | c.-34 others(39): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96880518 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0064a0001c0002t0001g0006a0001c0002t0001g0122others(2): Show | 5 | 126 | 0.0397 | -22 | c.849 others(37): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPS1_chr2_210551599_210684107 | 210571855 | TTGTGTGT others(15): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG02145.hp1 others(35): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0028a0001c0029others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0122a0001c0001t0001g0126a0001c0001t0002g0068others(32): Show | 38 | 340 | 0.1118 | -22 | c.127 others(39): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |