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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EML5_chr14_88607431_88797953 | 88727928 | T | TAAGAATT others(358): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 | 1 | 332 | 0.0030 | 365 | c.105 others(384): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 7/43 | chr14 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355710 | A | AGGAAGGA others(358): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 82 | 0.0122 | 365 | c.757 others(380): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355710 | A | AGGAAGGA others(358): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 82 | 0.0122 | 365 | c.757 others(380): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355710 | A | AGGAAGGA others(358): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 82 | 0.0122 | 365 | c.757 others(380): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355710 | A | AGGAAGGA others(358): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 82 | 0.0122 | 365 | c.757 others(380): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
EXOC6_chr10_92843520_93064490 | 92844781 | G | GTGAGCTA others(358): Show |
upstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 288 | 0.0035 | 365 | c.-37 others(376): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 3738 | chr10 | TogoVar | |||||||
FAF1_chr1_50432028_50965267 | 50845161 | T | TAAAGTAA others(358): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0084 | 1 | 190 | 0.0053 | 365 | c.114 others(384): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 2/18 | chr1 | TogoVar | |||||||
FAM53A_chr4_1634887_1689313 | 1652173 | G | GCCACACA others(358): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0146 | 1 | 350 | 0.0029 | 365 | c.882 others(382): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 4/4 | chr4 | TogoVar | |||||||
FAM83E_chr19_48594961_48620076 | 48608692 | T | TGCCTTGG others(358): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(195): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0004a0001c0007others(11): Show | a0001c0003t0001a0001c0003t0006a0001c0003t0010others(49): Show | a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0133 others(187): Show |
198 | 414 | 0.4783 | 365 | c.758 others(382): Show |
FAM83E | ENSG00000105523.4 | transcript | ENST00000263266.4 | protein_coding | 5/6 | chr19 | TogoVar | |||||||
FBLN1_chr22_45497883_45606135 | 45568809 | G | GGGGAATG others(358): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01175.hp2 HG01496.hp1 others(23): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0089 a0001c0001t0001g0309 a0001c0001t0001g0312 others(23): Show |
26 | 346 | 0.0751 | 365 | c.169 others(384): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FDCSP_chr4_70221124_70240252 | 70227583 | T | TAAAAAGC others(358): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 450 | 0.0022 | 365 | c.-1+ others(380): Show |
FDCSP | ENSG00000181617.6 | transcript | ENST00000317987.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FER1L5_chr2_96637764_96709883 | 96659346 | C | CTTTCTTC others(358): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0129 | 1 | 226 | 0.0044 | 365 | c.748 others(380): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 9/52 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46635731 | C | CTGTATCC others(358): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 328 | 0.0031 | 365 | c.163 others(382): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | chr22 | TogoVar | |||||||
GRHL3_chr1_24314357_24360318 | 24345043 | C | CCTCCACA others(358): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 | 1 | 372 | 0.0027 | 365 | c.145 others(382): Show |
GRHL3 | ENSG00000158055.17 | transcript | ENST00000361548.9 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GRK5_chr10_119202571_119464745 | 119313047 | G | GTGGTAAT others(358): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 NA20129.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0015others(1): Show | a0001c0001t0002g0129 a0001c0001t0005g0025 a0001c0001t0015g0134 others(1): Show |
4 | 202 | 0.0198 | 365 | c.53- others(382): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GRM6_chr5_178973327_179000320 | 178999547 | T | TGTATTTT others(358): Show |
upstream_gene_variant | MODIFIER | NA19001.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0298 | 1 | 468 | 0.0021 | 365 | c.-42 others(376): Show |
GRM6 | ENSG00000113262.16 | transcript | ENST00000517717.3 | protein_coding | 4228 | chr5 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653206 | C | CCCCTCCC others(358): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066 | 1 | 290 | 0.0035 | 365 | c.427 others(382): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | chr16 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112339310 | C | CAAGAAAA others(358): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03130.hp1 NA19074.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0001c0001t0004a0002c0004t0007 | a0001c0001t0003g0026 a0001c0001t0004g0023 a0002c0004t0007g0036 |
3 | 270 | 0.0111 | 365 | c.178 others(384): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HK1_chr10_69273496_69406882 | 69332357 | T | TTTTCTTT others(358): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 280 | 0.0036 | 365 | c.76- others(382): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HMGCLL1_chr6_55429373_55584192 | 55477220 | A | ATAATATA others(358): Show |
intron_variant | MODIFIER | HG03209.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0148 a0001c0001t0009g0247 |
2 | 334 | 0.0060 | 365 | c.795 others(384): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280710 | T | TTATTTTA others(358): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0193 | 1 | 394 | 0.0025 | 365 | c.41- others(380): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322606 | T | TACATGGA others(358): Show |
upstream_gene_variant | MODIFIER | NA18953.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0201 | 1 | 323 | 0.0031 | 365 | c.-24 others(376): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2363 | chr21 | TogoVar | |||||||
IL17RA_chr22_17080000_17120693 | 17103951 | T | TGTGGTGT others(358): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0017 | a0017c0028 | a0017c0028t0022 | a0017c0028t0022g0274 | 1 | 416 | 0.0024 | 365 | c.846 others(380): Show |
IL17RA | ENSG00000177663.15 | transcript | ENST00000319363.11 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
IQGAP3_chr1_156520405_156577565 | 156558077 | G | GGGGGATC others(358): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02572.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0004a0004c0005t0012 | a0004c0005t0004g0029 a0004c0005t0004g0030 a0004c0005t0004g0032 others(1): Show |
4 | 340 | 0.0118 | 365 | c.113 others(384): Show |
IQGAP3 | ENSG00000183856.11 | transcript | ENST00000361170.7 | protein_coding | 11/37 | chr1 | TogoVar | |||||||
ITGB7_chr12_53186323_53212251 | 53208342 | T | TAAACCTG others(358): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 400 | 0.0025 | 365 | c.-12 others(376): Show |
ITGB7 | ENSG00000139626.16 | transcript | ENST00000267082.10 | protein_coding | 1092 | chr12 | TogoVar | |||||||
JAM3_chr11_134064072_134157001 | 134138318 | C | CGTCTCGT others(358): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0060 | 1 | 390 | 0.0026 | 365 | c.77- others(380): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JAM3_chr11_134064072_134157001 | 134138440 | A | ATAGTCCC others(358): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01433.hp1 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0006g0240 others(1): Show |
4 | 390 | 0.0103 | 365 | c.77- others(380): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45229012 | A | ACTCACCC others(358): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 398 | 0.0025 | 365 | c.64+ others(382): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240786702 | G | GCATCAGG others(358): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0201 | 1 | 330 | 0.0030 | 365 | c.430 others(380): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | |||||||
KIF5B_chr10_32004015_32061425 | 32031868 | G | GGGCGCCT others(358): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 a0001c0001t0001g0209 |
2 | 364 | 0.0055 | 365 | c.137 others(382): Show |
KIF5B | ENSG00000170759.11 | transcript | ENST00000302418.5 | protein_coding | 13/25 | chr10 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164310576 | A | ACGAAAAT others(358): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0030 | 1 | 102 | 0.0098 | 365 | c.-32 others(386): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
METRNL_chr17_83074609_83100122 | 83090493 | C | CCCAGGGT others(358): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 399 | 0.0025 | 365 | c.557 others(382): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MLIP_chr6_54106443_54271280 | 54251553 | A | ATTATATA others(358): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 HG02922.hp2 others(1): Show |
a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0119 a0006c0008t0002g0121 a0006c0008t0002g0122 others(1): Show |
4 | 248 | 0.0161 | 365 | c.292 others(384): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 12/13 | chr6 | TogoVar | |||||||
MLIP_chr6_54106443_54271280 | 54251553 | A | ATTATATA others(358): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0154 | 1 | 248 | 0.0040 | 365 | c.292 others(384): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 12/13 | chr6 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370285 | C | CCCTACCC others(358): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 394 | 0.0025 | 365 | c.-7- others(376): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MSH4_chr1_75791882_75918242 | 75885668 | T | TATAATAT others(358): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 332 | 0.0030 | 365 | c.210 others(384): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 15/19 | chr1 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767619 | G | GGCGTGGA others(358): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0039 | 1 | 388 | 0.0026 | 365 | c.159 others(382): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(358): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0123 | 1 | 384 | 0.0026 | 365 | c.160 others(382): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(358): Show |
intron_variant | MODIFIER | HG01516.hp1 HG03486.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0007a0003c0003t0027 | a0001c0001t0007g0364 a0003c0003t0027g0151 |
2 | 384 | 0.0052 | 365 | c.160 others(382): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(358): Show |
upstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 350 | 0.0029 | 365 | c.-28 others(376): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | |||||||
MYO18B_chr22_25737188_26036045 | 25792353 | T | TAAGAAGT others(358): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0161 | 1 | 228 | 0.0044 | 365 | c.237 others(384): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 11/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174698 | C | CCTGTAGT others(358): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 223 | 0.0045 | 365 | c.-99 others(382): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | chr20 | TogoVar | |||||||
NCAM2_chr21_20993409_21548329 | 21433742 | C | CAATAAAA others(358): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0130 | 1 | 132 | 0.0076 | 365 | c.165 others(384): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241807931 | T | TCCCTCCC others(358): Show |
upstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0016 | 1 | 319 | 0.0031 | 365 | c.-13 others(376): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1261 | chr2 | TogoVar | |||||||
NF1_chr17_31089977_31382675 | 31127108 | G | GCACAGGC others(358): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0004 | 1 | 252 | 0.0040 | 365 | c.61- others(382): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 1/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NHLRC4_chr16_562005_574495 | 571109 | C | CTGGCTAG others(358): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 424 | 0.0047 | 365 | c.*26 others(376): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1615 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571109 | C | CTGGCTAG others(358): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 365 | c.*26 others(376): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1615 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571109 | C | CTGGCTAG others(358): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 424 | 0.0047 | 365 | c.*26 others(376): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1615 | chr16 | TogoVar | |||||||
NME4_chr16_392199_405754 | 397709 | T | TGGGGGGG others(358): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 356 | 0.0028 | 365 | c.91+ others(378): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535545 | C | CAGGGGCA others(358): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0197 | 1 | 324 | 0.0031 | 365 | c.140 others(382): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar |