view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C1orf159_chr1_1076823_1121089 | 1080916 | G | GGTCCCTG others(185): Show |
downstream_gene_variant | MODIFIER | NA18999.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 a0001c0001t0001g0220 |
2 | 208 | 0.0096 | 192 | c.*19 others(203): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 906 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1080916 | G | GGTCCCTG others(185): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01346.hp1 HG01943.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0035 a0001c0001t0001g0092 others(8): Show |
11 | 217 | 0.0507 | 192 | c.*19 others(203): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 906 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1080916 | G | GGTCCCTG others(185): Show |
downstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 207 | 0.0048 | 192 | c.*19 others(203): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 906 | chr1 | TogoVar | |||||||
CABLES1_chr18_23130485_23265470 | 23218421 | C | CTCCCGCA others(185): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0208 | 1 | 271 | 0.0037 | 192 | c.108 others(211): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13221224 | T | TTTCTTTT others(185): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0204 | 1 | 90 | 0.0111 | 192 | c.573 others(211): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13221224 | T | TTTCTTTT others(185): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0039 | a0003c0039t0001 | a0003c0039t0001g0074 | 1 | 90 | 0.0111 | 192 | c.573 others(211): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13221224 | T | TTTCTTTT others(185): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0027 | 1 | 90 | 0.0111 | 192 | c.573 others(211): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13221224 | T | TTTCTTTT others(185): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0023 | a0023c0042 | a0023c0042t0001 | a0023c0042t0001g0092 | 1 | 90 | 0.0111 | 192 | c.573 others(211): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1199180 | T | TCATGGCT others(185): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0238 | 1 | 334 | 0.0030 | 192 | c.803 others(207): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1199180 | T | TCATGGCT others(185): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0065 | a0065c0067 | a0065c0067t0019 | a0065c0067t0019g0323 | 1 | 334 | 0.0030 | 192 | c.803 others(207): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1199190 | A | ACCCACCG others(185): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03195.hp2 HG03209.hp1 others(2): Show |
a0003a0005a0022others(1): Show | a0003c0015a0005c0056a0022c0064others(2): Show | a0003c0015t0011a0005c0056t0035a0022c0064t0030others(2): Show | a0003c0015t0011g0014 a0005c0056t0035g0223 a0022c0064t0030g0276 others(2): Show |
5 | 294 | 0.0170 | 192 | c.803 others(207): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1199252 | C | CGCTGCAC others(185): Show |
intron_variant | MODIFIER | HG01261.hp2 NA18959.hp2 NA18967.hp2 others(4): Show |
a0002a0003a0072 | a0002c0007a0002c0057a0003c0015others(1): Show | a0002c0007t0003a0002c0007t0010a0002c0057t0002others(2): Show | a0002c0007t0003g0094 a0002c0007t0003g0095 a0002c0007t0003g0309 others(4): Show |
7 | 303 | 0.0231 | 192 | c.803 others(207): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1199252 | C | CGCTGCAC others(185): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03139.hp1 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0028 a0002c0007t0001g0029 |
2 | 298 | 0.0067 | 192 | c.803 others(207): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39566011 | A | ATGATGAT others(185): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0199 | 1 | 154 | 0.0065 | 192 | c.-47 others(203): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4741 | chr22 | TogoVar | |||||||
CAMK4_chr5_111219384_111499886 | 111450625 | T | TAAAAATA others(185): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0133 | a0001c0001t0133g0004 | 1 | 150 | 0.0067 | 192 | c.625 others(209): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121255222 | A | ATATATAT others(185): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0019 | 1 | 94 | 0.0106 | 192 | c.907 others(207): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 6937556 | T | TCATCACG others(185): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02004.hp1 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0003a0003c0008t0007 | a0001c0001t0003g0022 a0003c0008t0007g0023 |
2 | 54 | 0.0370 | 192 | c.234 others(213): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544729 | A | ACGTCGCC others(185): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0317 | 1 | 356 | 0.0028 | 192 | c.-22 others(209): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761458 | A | AAGGGGAA others(185): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 282 | 0.0035 | 192 | c.234 others(209): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115761482 | A | AAGAAGAA others(185): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0060 | 1 | 338 | 0.0030 | 192 | c.234 others(209): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10744344 | C | CGGCACCA others(185): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01081.hp2 HG02071.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0009others(3): Show | a0001c0002t0003a0001c0003t0056a0001c0009t0005others(3): Show | a0001c0002t0003g0010 a0001c0003t0056g0121 a0001c0009t0005g0008 others(3): Show |
6 | 112 | 0.0536 | 192 | c.-77 others(211): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CD300A_chr17_74461634_74489794 | 74482697 | C | CCTTCCTT others(185): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 189 | 0.0053 | 192 | c.774 others(207): Show |
CD300A | ENSG00000167851.15 | transcript | ENST00000360141.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CD300A_chr17_74461634_74489794 | 74482697 | C | CCTTCCTT others(185): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 189 | 0.0053 | 192 | c.774 others(207): Show |
CD300A | ENSG00000167851.15 | transcript | ENST00000360141.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(185): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 29 | 0.0345 | 192 | c.*27 others(203): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | |||||||
CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(185): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG01517.hp2 HG02040.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0034 | a0001c0001t0001g0001 a0001c0001t0011g0001 a0001c0001t0034g0001 |
5 | 33 | 0.1515 | 192 | c.*27 others(203): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | |||||||
CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(185): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 29 | 0.0345 | 192 | c.*27 others(203): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | |||||||
CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(185): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 29 | 0.0345 | 192 | c.*27 others(203): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | |||||||
CD3G_chr11_118339344_118360161 | 118355930 | C | CACACATA others(185): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 353 | 0.0028 | 192 | c.*28 others(203): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 770 | chr11 | TogoVar | |||||||
CDC40_chr6_110175427_110237232 | 110185397 | T | TACGCCCG others(185): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0006 | a0001c0006t0014 | a0001c0006t0014g0180 | 1 | 322 | 0.0031 | 192 | c.189 others(209): Show |
CDC40 | ENSG00000168438.15 | transcript | ENST00000307731.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61329347 | C | CCCTCGTG others(185): Show |
intron_variant | MODIFIER | HG01123.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0088 a0001c0001t0017g0030 |
2 | 106 | 0.0189 | 192 | c.169 others(211): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61329350 | T | TCGTGGGT others(185): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0020 | a0001c0001t0001g0005 a0001c0006t0020g0004 |
2 | 94 | 0.0213 | 192 | c.169 others(211): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(185): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0005 | a0005c0030 | a0005c0030t0096 | a0005c0030t0096g0315 | 1 | 66 | 0.0152 | 192 | c.-25 others(203): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24881909 | T | TAGATACA others(185): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0005 | 1 | 438 | 0.0023 | 192 | c.*12 others(203): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 369 | chr13 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181606461 | A | AGGGGAGG others(185): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01981.hp1 |
a0001a0006 | a0001c0001a0006c0017 | a0001c0001t0001a0006c0017t0001 | a0001c0001t0001g0249 a0006c0017t0001g0284 |
2 | 275 | 0.0073 | 192 | c.239 others(209): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80390588 | T | TATATGTA others(185): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 81 | 0.0123 | 192 | c.242 others(211): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35966189 | A | ACTAATAT others(185): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0018 | a0018c0017 | a0018c0017t0001 | a0018c0017t0001g0089 a0018c0017t0001g0090 |
2 | 59 | 0.0339 | 192 | c.141 others(209): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35966189 | A | ACTAATAT others(185): Show |
intron_variant | MODIFIER | HG02602.hp1 NA18955.hp1 NA19079.hp1 others(1): Show |
a0001a0029 | a0001c0001a0029c0042 | a0001c0001t0001a0029c0042t0001 | a0001c0001t0001g0046 a0001c0001t0001g0081 a0001c0001t0001g0113 others(1): Show |
4 | 61 | 0.0656 | 192 | c.141 others(209): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35966189 | A | ACTAATAT others(185): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03516.hp2 HG06807.hp1 |
a0005a0006a0010 | a0005c0005a0006c0008a0010c0043 | a0005c0005t0001a0006c0008t0001a0010c0043t0001 | a0005c0005t0001g0013 a0006c0008t0001g0189 a0010c0043t0001g0188 |
3 | 60 | 0.0500 | 192 | c.141 others(209): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35966284 | T | TGCTAATA others(185): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 198 | 0.0051 | 192 | c.141 others(209): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337306 | A | ATAGATGG others(185): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0023 | a0001c0023t0003 | a0001c0023t0003g0054 | 1 | 229 | 0.0044 | 192 | c.342 others(211): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85911212 | T | TGAATATA others(185): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0230 | 1 | 242 | 0.0041 | 192 | c.124 others(207): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | |||||||
CHST5_chr16_75523530_75541108 | 75526189 | G | GTGTGCAT others(185): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0004 | a0004c0006 | a0004c0006t0013 | a0004c0006t0013g0022 | 1 | 382 | 0.0026 | 192 | c.*29 others(203): Show |
CHST5 | ENSG00000135702.15 | transcript | ENST00000336257.8 | protein_coding | 2340 | chr16 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1339516 | G | GGTCAGCG others(185): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02572.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0033 a0001c0001t0001g0179 a0001c0001t0001g0180 others(4): Show |
10 | 362 | 0.0276 | 192 | c.454 others(207): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 3/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1339516 | G | GGTCAGCG others(185): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03453.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0201 |
3 | 355 | 0.0085 | 192 | c.454 others(207): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 3/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1339708 | A | AGTCAGCG others(185): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02572.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0131 others(4): Show |
7 | 353 | 0.0198 | 192 | c.454 others(207): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 3/16 | chr5 | TogoVar | |||||||
CNOT2_chr12_70238433_70359993 | 70339158 | A | AGGAATTT others(185): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 278 | 0.0036 | 192 | c.117 others(209): Show |
CNOT2 | ENSG00000111596.14 | transcript | ENST00000229195.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146535114 | G | GATATATA others(185): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0029 | 1 | 26 | 0.0385 | 192 | c.98- others(211): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101417602 | G | GTATATCT others(185): Show |
intron_variant | MODIFIER | HG03195.hp1 NA18984.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0115 a0002c0003t0001g0117 |
2 | 148 | 0.0135 | 192 | c.159 others(209): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385731 | G | GCCGTGGC others(185): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0061 | 1 | 278 | 0.0036 | 192 | c.180 others(211): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385792 | T | TGTGTGGA others(185): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0003 | a0003c0007 | a0003c0007t0005 | a0003c0007t0005g0169 | 1 | 363 | 0.0028 | 192 | c.180 others(211): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |