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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(628): Show |
downstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 80 | 0.0125 | 635 | c.*64 others(646): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(628): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 80 | 0.0125 | 635 | c.*64 others(646): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(628): Show |
downstream_gene_variant | MODIFIER | HG01978.hp2 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0075 a0001c0001t0006g0008 |
2 | 81 | 0.0247 | 635 | c.*64 others(646): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(628): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 80 | 0.0125 | 635 | c.*64 others(646): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(628): Show |
downstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0040 | 1 | 80 | 0.0125 | 635 | c.*64 others(646): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(628): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 80 | 0.0125 | 635 | c.*64 others(646): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(628): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 80 | 0.0125 | 635 | c.*64 others(646): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(628): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 80 | 0.0125 | 635 | c.*64 others(646): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(628): Show |
downstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 80 | 0.0125 | 635 | c.*64 others(646): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(628): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 80 | 0.0125 | 635 | c.*64 others(646): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(628): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 80 | 0.0125 | 635 | c.*64 others(646): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48605186 | G | GTGATGAT others(628): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 57 | 0.0175 | 635 | c.113 others(654): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48605186 | G | GTGATGAT others(628): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0015 a0001c0001t0002g0156 a0001c0001t0002g0166 others(1): Show |
4 | 60 | 0.0667 | 635 | c.113 others(654): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48605186 | G | GTGATGAT others(628): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01069.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0061 a0001c0001t0001g0086 a0001c0001t0001g0177 others(3): Show |
6 | 62 | 0.0968 | 635 | c.113 others(654): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47128195 | T | TCCCTCCA others(628): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG01496.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0074 a0001c0001t0001g0084 others(4): Show |
7 | 67 | 0.1045 | 635 | c.142 others(656): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628218 | A | ACGGGGGT others(628): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0002 | a0002c0001 | a0002c0001t0023 | a0002c0001t0023g0307 | 1 | 326 | 0.0031 | 635 | c.299 others(650): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415716 | G | GCTCTCTC others(628): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 253 | 0.0040 | 635 | c.924 others(652): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TMEM132B_chr12_125181386_125667369 | 125612896 | A | ATAAAAAT others(628): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0081 | 1 | 58 | 0.0172 | 635 | c.143 others(656): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143321834 | A | ACACGCCA others(628): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0346 | 1 | 230 | 0.0043 | 635 | c.961 others(650): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | |||||||
TRAPPC12_chr2_3374694_3484565 | 3437762 | A | ACCCCATC others(628): Show |
intron_variant | MODIFIER | HG02897.hp1 HG03130.hp2 |
a0001 | a0001c0004a0001c0011 | a0001c0004t0002a0001c0011t0001 | a0001c0004t0002g0084 a0001c0011t0001g0044 |
2 | 326 | 0.0061 | 635 | c.141 others(654): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VEGFB_chr11_64229584_64244264 | 64237115 | G | GGGAGAGG others(628): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 318 | 0.0031 | 635 | c.375 others(648): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(628): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0129 | 1 | 44 | 0.0227 | 635 | c.-1- others(652): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1118335 | T | TCCCTCCC others(629): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 334 | 0.0030 | 636 | c.246 others(653): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTCCCT others(629): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0178 | 1 | 82 | 0.0122 | 636 | c.106 others(655): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AGAP1_chr2_235489043_236136793 | 235598025 | T | TTGTGTGG others(629): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0003 | 1 | 87 | 0.0115 | 636 | c.163 others(657): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235598025 | T | TTGTGTGG others(629): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02572.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0004others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0060 a0001c0001t0002g0070 others(4): Show |
7 | 93 | 0.0753 | 636 | c.163 others(657): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15529638 | A | ATATAGTA others(629): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 57 | 0.0175 | 636 | c.409 others(655): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132759517 | A | ATGTATAC others(629): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0003 | a0003c0003 | a0003c0003t0008 | a0003c0003t0008g0013 | 1 | 319 | 0.0031 | 636 | c.181 others(653): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687241 | A | ACACTAGC others(629): Show |
upstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 187 | 0.0053 | 636 | c.-16 others(647): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1396 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049880 | G | GGAACACA others(629): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 a0001c0001t0002g0183 |
2 | 230 | 0.0087 | 636 | c.*48 others(647): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2223 | chr8 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160652904 | T | TGTATTGC others(629): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0008 | a0008c0012 | a0008c0012t0017 | a0008c0012t0017g0185 | 1 | 228 | 0.0044 | 636 | c.676 others(653): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(629): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 223 | 0.0045 | 636 | c.*36 others(647): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(629): Show |
upstream_gene_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003 | 1 | 8 | 0.1250 | 636 | c.-70 others(645): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(629): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03195.hp2 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0013 | a0001c0001t0008g0018 a0001c0001t0008g0041 a0001c0001t0008g0042 others(1): Show |
5 | 90 | 0.0556 | 636 | c.*21 others(651): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(629): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02155.hp2 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0151 a0001c0001t0001g0188 a0001c0001t0010g0134 |
3 | 88 | 0.0341 | 636 | c.*21 others(651): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(629): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02109.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 a0001c0001t0004g0124 a0001c0001t0004g0177 others(6): Show |
11 | 96 | 0.1146 | 636 | c.*21 others(651): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(629): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 86 | 0.0116 | 636 | c.*21 others(651): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2106118 | A | AGAGGGTT others(629): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0009 | a0002c0009t0012 | a0002c0009t0012g0066 a0002c0009t0012g0067 |
2 | 82 | 0.0244 | 636 | c.50- others(651): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121255344 | A | ATATATAT others(629): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0210 | 1 | 249 | 0.0040 | 636 | c.907 others(651): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(629): Show |
intron_variant | MODIFIER | NA18964.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0027 a0001c0001t0002g0026 |
2 | 28 | 0.0714 | 636 | c.349 others(651): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(629): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 27 | 0.0370 | 636 | c.349 others(651): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(629): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 27 | 0.0370 | 636 | c.349 others(651): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17432004 | T | TGACATTT others(629): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0012 | a0012c0015 | a0012c0015t0018 | a0012c0015t0018g0275 | 1 | 165 | 0.0061 | 636 | c.127 others(655): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320485 | A | ATTATATA others(629): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0009 | a0009c0014 | a0009c0014t0006 | a0009c0014t0006g0007 | 1 | 201 | 0.0050 | 636 | c.342 others(657): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20357793 | G | GTGAGGGG others(629): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0083 | 1 | 201 | 0.0050 | 636 | c.351 others(655): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20357810 | T | TACTGAGG others(629): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 24 | 0.0417 | 636 | c.351 others(655): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45501091 | T | TGTGGGGG others(629): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0066 | a0001c0066t0005 | a0001c0066t0005g0036 | 1 | 290 | 0.0034 | 636 | c.268 others(655): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GAGGAAGG others(629): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0236 | 1 | 171 | 0.0058 | 636 | c.85- others(653): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130591387 | A | AAGGAGGT others(629): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0106 | 1 | 102 | 0.0098 | 636 | c.737 others(655): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 9/23 | chr7 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647412 | C | CCACAATC others(629): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0020 | 1 | 271 | 0.0037 | 636 | c.*52 others(647): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2068 | chr15 | TogoVar |