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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GPSM1_chr9_136322539_136364601 | 136355108 | T | TGGGTGAC others(870): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0030 | a0002c0030t0030 | a0002c0030t0030g0171 | 1 | 400 | 0.0025 | 877 | c.145 others(894): Show |
GPSM1 | ENSG00000160360.13 | transcript | ENST00000440944.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(870): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 204 | 0.0049 | 877 | c.978 others(894): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KLHDC4_chr16_87702812_87770986 | 87739048 | C | CCATCCAC others(870): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0274 | 1 | 380 | 0.0026 | 877 | c.507 others(894): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87739048 | C | CCATCCAC others(870): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0272 | 1 | 380 | 0.0026 | 877 | c.507 others(894): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87739048 | C | CCATCCAC others(870): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02572.hp2 HG02630.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0152a0002c0002t0001g0286a0002c0002t0001g0288others(6): Show | 9 | 380 | 0.0237 | 877 | c.507 others(894): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87739088 | C | CCTCATCC others(870): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0016 | a0016c0019 | a0016c0019t0001 | a0016c0019t0001g0135 | 1 | 380 | 0.0026 | 877 | c.507 others(894): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(870): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 260 | 0.0039 | 877 | c.125 others(894): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(870): Show |
intron_variant | MODIFIER | NA18944.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0148a0001c0001t0003g0182 | 2 | 260 | 0.0077 | 877 | c.125 others(894): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LUC7L_chr16_183990_234449 | 186119 | G | GGGAACAG others(870): Show |
downstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 350 | 0.0029 | 877 | c.*30 others(888): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2870 | chr16 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(870): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 318 | 0.0031 | 877 | c.-49 others(888): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(870): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0049 | 1 | 194 | 0.0052 | 877 | c.-12 others(896): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(870): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18952.hp1 NA18952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0145 | 3 | 280 | 0.0107 | 877 | c.641 others(892): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(870): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03453.hp2 |
a0005a0011 | a0005c0042a0011c0027 | a0005c0042t0001a0011c0027t0003 | a0005c0042t0001g0076a0011c0027t0003g0031 | 2 | 280 | 0.0071 | 877 | c.641 others(892): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(870): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 280 | 0.0036 | 877 | c.641 others(892): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(870): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 | 1 | 272 | 0.0037 | 877 | c.250 others(892): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158667983 | T | TCCTTACC others(870): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0189 | 1 | 378 | 0.0027 | 877 | c.148 others(896): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGGT others(870): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0197 | 1 | 324 | 0.0031 | 877 | c.141 others(894): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(870): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0025 | 1 | 324 | 0.0031 | 877 | c.141 others(894): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(870): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0214 | 1 | 324 | 0.0031 | 877 | c.141 others(894): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NRCAM_chr7_108142649_108461436 | 108163931 | G | GGGGTAGT others(870): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0207 | 1 | 208 | 0.0048 | 877 | c.346 others(896): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 30/32 | chr7 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133082572 | T | TCCTCCTC others(870): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03098.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0030a0001c0001t0032 | a0001c0001t0007g0029a0001c0001t0030g0067a0001c0001t0032g0065 | 3 | 68 | 0.0441 | 877 | c.62- others(896): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 318063 | T | TGCACCTC others(870): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 360 | 0.0028 | 877 | c.*35 others(888): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3090 | chr5 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803088 | C | CCCAGGGC others(870): Show |
upstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0217 | 1 | 330 | 0.0030 | 877 | c.-51 others(888): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4859 | chr9 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803290 | C | CCCAGGGC others(870): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 330 | 0.0030 | 877 | c.-49 others(888): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4657 | chr9 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388407 | T | TTATAGCT others(870): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 | 1 | 304 | 0.0033 | 877 | c.66+ others(892): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SLC6A3_chr5_1387794_1450440 | 1414498 | G | GGGGAAGG others(870): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0218 | 1 | 373 | 0.0027 | 877 | c.115 others(894): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(870): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 322 | 0.0031 | 877 | c.597 others(894): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(870): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0072 | 1 | 322 | 0.0031 | 877 | c.597 others(894): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(870): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0029a0001c0001t0020g0041 | 2 | 322 | 0.0062 | 877 | c.597 others(894): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
STK38L_chr12_27239286_27330959 | 27241277 | C | CTGTATAG others(870): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0328a0001c0001t0005g0329 | 2 | 374 | 0.0054 | 877 | c.-30 others(888): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 3008 | chr12 | TogoVar | ||||||
TH_chr11_2158929_2176815 | 2161748 | A | ACACCCCT others(870): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 388 | 0.0026 | 877 | c.*24 others(888): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2180 | chr11 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377647 | T | TCCCCTCT others(870): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 114 | 0.0088 | 877 | c.-25 others(896): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGAGAG others(870): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0109 | 1 | 272 | 0.0037 | 877 | c.389 others(896): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
TTLL8_chr22_50013575_50063298 | 50028618 | G | GAAGACCC others(870): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 224 | 0.0045 | 877 | c.225 others(896): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(870): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 238 | 0.0042 | 877 | c.392 others(894): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(870): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0094 | 1 | 468 | 0.0021 | 877 | c.-6- others(892): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UROC1_chr3_126476166_126522773 | 126515857 | A | ACCCCCAG others(870): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 380 | 0.0026 | 877 | c.126 others(894): Show |
UROC1 | ENSG00000159650.9 | transcript | ENST00000290868.7 | protein_coding | 1/19 | chr3 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289035 | C | CCGTGTCT others(871): Show |
downstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 295 | 0.0034 | 878 | c.*45 others(889): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3355 | chr1 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142502553 | G | GGGGTGAT others(871): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0009 | a0009c0037 | a0009c0037t0002 | a0009c0037t0002g0271 | 1 | 310 | 0.0032 | 878 | c.267 others(897): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(871): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0030 | a0030c0036 | a0030c0036t0092 | a0030c0036t0092g0163 | 1 | 262 | 0.0038 | 878 | c.775 others(893): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(871): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0087 | a0001c0002t0087g0147 | 1 | 169 | 0.0059 | 878 | c.48- others(895): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARHGAP39_chr8_144524179_144690846 | 144687489 | A | ACACTGGC others(871): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 246 | 0.0041 | 878 | c.-18 others(889): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1644 | chr8 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802876 | G | GGGGGCCC others(871): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 398 | 0.0025 | 878 | c.666 others(893): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(871): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0358 | 1 | 398 | 0.0025 | 878 | c.666 others(893): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(871): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 398 | 0.0025 | 878 | c.666 others(893): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC88C_chr14_91266323_91422820 | 91293336 | T | TCACCTTC others(871): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0151 | 1 | 284 | 0.0035 | 878 | c.411 others(895): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TAGATGGA others(871): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0099 | 1 | 236 | 0.0042 | 878 | c.342 others(897): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(871): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03130.hp2 HG03540.hp1 |
a0005a0006a0013 | a0005c0013a0006c0011a0013c0021 | a0005c0013t0003a0006c0011t0002a0013c0021t0003 | a0005c0013t0003g0048a0006c0011t0002g0117a0013c0021t0003g0046 | 3 | 236 | 0.0127 | 878 | c.342 others(897): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20357451 | A | ACTGAGGG others(871): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0189 | 1 | 236 | 0.0042 | 878 | c.351 others(897): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | chr20 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(871): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0044 | 1 | 320 | 0.0031 | 878 | c.937 others(893): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |