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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(779): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 9 | 0.1111 | 786 | c.4-1 others(799): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(779): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 9 | 0.1111 | 786 | c.4-1 others(799): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113418984 | C | CTCCCTCC others(780): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0018 | a0018c0025 | a0018c0025t0039 | a0018c0025t0039g0260 | 1 | 241 | 0.0041 | 787 | c.106 others(806): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(780): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0011 | 1 | 296 | 0.0034 | 787 | c.*36 others(798): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404604 | A | AGGGGGGG others(780): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0002 | a0001c0002t0064 | a0001c0002t0064g0127 | 1 | 243 | 0.0041 | 787 | c.*24 others(798): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 840 | chr19 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185649 | T | TCAGCGTG others(780): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0006 | a0006c0003 | a0006c0003t0001 | a0006c0003t0001g0173 | 1 | 308 | 0.0032 | 787 | c.300 others(804): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882452 | G | GGGAGAAG others(780): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 189 | 0.0053 | 787 | c.303 others(806): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599769 | A | ACTTTGGA others(780): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0076 | 1 | 408 | 0.0025 | 787 | c.138 others(806): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19202402 | C | CCGCCATC others(780): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0019 | a0019c0018 | a0019c0018t0001 | a0019c0018t0001g0090 | 1 | 324 | 0.0031 | 787 | c.360 others(804): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(780): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 42 | 0.0238 | 787 | c.844 others(804): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098126 | T | TATAAAAA others(780): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 242 | 0.0041 | 787 | c.181 others(806): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(780): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0094 | 1 | 180 | 0.0056 | 787 | c.85- others(804): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(780): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG01074.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0037others(8): Show | a0001c0001t0002g0122 a0001c0001t0005g0056 a0001c0001t0005g0119 others(13): Show |
16 | 28 | 0.5714 | 787 | c.109 others(806): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(780): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 13 | 0.0769 | 787 | c.109 others(806): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(780): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0117 | 1 | 13 | 0.0769 | 787 | c.109 others(806): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(780): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0013 | a0013c0055 | a0013c0055t0007 | a0013c0055t0007g0257 | 1 | 13 | 0.0769 | 787 | c.109 others(806): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(780): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01943.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0009a0001c0003t0003a0001c0003t0010others(5): Show | a0001c0001t0009g0233 a0001c0003t0003g0255 a0001c0003t0010g0259 others(5): Show |
8 | 20 | 0.4000 | 787 | c.109 others(806): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(780): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0012 | a0001c0012t0039 | a0001c0012t0039g0230 | 1 | 13 | 0.0769 | 787 | c.109 others(806): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(780): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0247 | 1 | 13 | 0.0769 | 787 | c.109 others(806): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647319 | C | CCTCCTCC others(780): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG02630.hp1 HG02717.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0009a0003c0003t0001 | a0001c0001t0001g0121 a0001c0001t0009g0035 a0003c0003t0001g0217 others(1): Show |
4 | 264 | 0.0152 | 787 | c.*51 others(798): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1975 | chr15 | TogoVar | |||||||
CYLC1_chrX_83856146_83891698 | 83878244 | A | AATATATA others(780): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 192 | 0.0052 | 787 | c.192 others(806): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(780): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 257 | 0.0039 | 787 | c.348 others(804): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916214 | C | CGACACGC others(780): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0018 | a0002c0018t0015 | a0002c0018t0015g0048 | 1 | 272 | 0.0037 | 787 | c.179 others(806): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | chr7 | TogoVar | |||||||
FER_chr5_108742897_109201841 | 108930372 | T | TTCCCTCC others(780): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02083.hp2 HG03491.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0011a0001c0001t0031a0003c0009t0002 | a0001c0001t0011g0037 a0001c0001t0011g0053 a0001c0001t0031g0005 others(1): Show |
4 | 5 | 0.8000 | 787 | c.123 others(808): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602167 | T | TCTCTCCT others(780): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0011 | 1 | 376 | 0.0027 | 787 | c.633 others(804): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925820 | A | ATGGATGG others(780): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0333 | 1 | 318 | 0.0031 | 787 | c.666 others(804): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925820 | A | ATGGATGG others(780): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0332 | 1 | 318 | 0.0031 | 787 | c.666 others(804): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925853 | T | TGGATTGG others(780): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0139 | 1 | 320 | 0.0031 | 787 | c.666 others(804): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925857 | T | TTGGATGG others(780): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0004 | a0004c0008 | a0004c0008t0004 | a0004c0008t0004g0116 | 1 | 89 | 0.0112 | 787 | c.666 others(804): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322391 | A | ATATATGC others(780): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0209 | 1 | 312 | 0.0032 | 787 | c.-26 others(798): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2578 | chr21 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(780): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 5 | 0.2000 | 787 | c.-41 others(802): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCC others(780): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 5 | 0.2000 | 787 | c.-41 others(802): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(780): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 5 | 0.2000 | 787 | c.-46 others(798): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(780): Show |
intron_variant | MODIFIER | HG04199.hp1 NA20905.hp2 |
a0001a0101 | a0001c0016a0101c0044 | a0001c0016t0001a0101c0044t0001 | a0001c0016t0001g0166 a0101c0044t0001g0167 |
2 | 32 | 0.0625 | 787 | c.956 others(804): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(780): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 80 | 0.0125 | 787 | c.125 others(804): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364373 | C | CCACGCTT others(780): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0236 | 1 | 242 | 0.0041 | 787 | c.129 others(806): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRIQ1_chr12_85031351_85250105 | 85112497 | T | TAAGAGTT others(780): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01099.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0099 others(3): Show |
6 | 203 | 0.0296 | 787 | c.337 others(806): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19478121 | G | GGAGAGGG others(780): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0102 | 1 | 12 | 0.0833 | 787 | c.525 others(804): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(780): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0211 | 1 | 8 | 0.1250 | 787 | c.115 others(804): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(780): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 8 | 0.1250 | 787 | c.250 others(802): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45910132 | C | CGCCACCC others(780): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 48 | 0.0208 | 787 | c.471 others(802): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | chr21 | TogoVar | |||||||
PHACTR4_chr1_28364740_28505364 | 28391140 | C | CTGTAATC others(780): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0002 | a0002c0002t0037 | a0002c0002t0037g0153 | 1 | 121 | 0.0083 | 787 | c.-38 others(806): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(780): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01106.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003 | a0001c0003t0001g0238 a0001c0003t0003g0209 a0001c0003t0003g0215 others(3): Show |
6 | 9 | 0.6667 | 787 | c.328 others(806): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(780): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01069.hp2 others(14): Show |
a0001 | a0001c0002a0001c0004a0001c0007 | a0001c0002t0001a0001c0004t0001a0001c0004t0002others(1): Show | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 others(13): Show |
17 | 20 | 0.8500 | 787 | c.328 others(806): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(780): Show |
intron_variant | MODIFIER | HG02602.hp2 NA18956.hp2 |
a0001 | a0001c0003a0001c0019 | a0001c0003t0001a0001c0019t0003 | a0001c0003t0001g0115 a0001c0019t0003g0178 |
2 | 5 | 0.4000 | 787 | c.328 others(806): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAB40B_chr17_82649973_82703698 | 82671976 | C | CACACGCT others(780): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02056.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0230 a0001c0001t0003g0274 |
2 | 132 | 0.0152 | 787 | c.143 others(804): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679076 | A | ATTTATTT others(780): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 299 | 0.0033 | 787 | c.-75 others(806): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(780): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18953.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0023g0170 |
3 | 131 | 0.0229 | 787 | c.-75 others(806): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(780): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 129 | 0.0078 | 787 | c.-75 others(806): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(780): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 27 | 0.0370 | 787 | c.-75 others(806): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar |