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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(2037): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0011 | a0011c0064 | a0011c0064t0002 | a0011c0064t0002g0246 | 1 | 329 | 0.0030 | 2044 | c.307 others(2061): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(2037): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 28 | 0.0357 | 2044 | c.-50 others(2055): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2038): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 69 | 0.0145 | 2045 | c.*52 others(2056): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2038): Show |
downstream_gene_variant | MODIFIER | NA18964.hp2 NA19083.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0003 | a0001c0001t0003g0016 a0003c0003t0003g0019 |
2 | 70 | 0.0286 | 2045 | c.*52 others(2056): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911580 | G | GGGGGTCT others(2038): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0031 | a0031c0076 | a0031c0076t0002 | a0031c0076t0002g0021 | 1 | 126 | 0.0079 | 2045 | c.101 others(2064): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378317 | C | CCTGGGAT others(2038): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0290 | 1 | 234 | 0.0043 | 2045 | c.215 others(2062): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586503 | G | GGGGAAAG others(2038): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0018 | 1 | 234 | 0.0043 | 2045 | c.157 others(2062): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857076 | G | GCCCCCCC others(2038): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0056 | 1 | 310 | 0.0032 | 2045 | c.-41 others(2060): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133354202 | A | ATGGTGGT others(2038): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0017 | 1 | 15 | 0.0667 | 2045 | c.61+ others(2064): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(2038): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0031 | 1 | 329 | 0.0030 | 2045 | c.307 others(2062): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(2038): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0031 | 1 | 329 | 0.0030 | 2045 | c.307 others(2062): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2038): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 NA18967.hp2 NA18981.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0017a0001c0001t0034others(2): Show | a0001c0001t0008g0194 a0001c0001t0017g0225 a0001c0001t0034g0209 others(2): Show |
5 | 228 | 0.0219 | 2045 | c.*39 others(2056): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2123213 | G | GTGGTTAG others(2038): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 a0001c0001t0002g0022 |
2 | 143 | 0.0140 | 2045 | c.335 others(2064): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC22A3_chr6_160343378_160457577 | 160456788 | G | GTGGTAGT others(2038): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG00609.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0236 a0001c0001t0008g0249 |
2 | 3 | 0.6667 | 2045 | c.*57 others(2056): Show |
SLC22A3 | ENSG00000146477.6 | transcript | ENST00000275300.3 | protein_coding | 4212 | chr6 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2039): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0005 | a0002c0005t0010 | a0002c0005t0010g0091 | 1 | 44 | 0.0227 | 2046 | c.108 others(2063): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2039): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0088 | 1 | 2 | 0.5000 | 2046 | c.126 others(2063): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DPYD_chr1_97072743_97926034 | 97898153 | G | GTGGGAGG others(2039): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0052 | 1 | 50 | 0.0200 | 2046 | c.40- others(2063): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(2039): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 13 | 0.0769 | 2046 | c.-79 others(2055): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105162474 | C | CAAAGCCC others(2039): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 231 | 0.0043 | 2046 | c.418 others(2063): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997285 | G | GGGGCGGG others(2039): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 | a0003 | a0003c0004 | a0003c0004t0047 | a0003c0004t0047g0358 | 1 | 351 | 0.0028 | 2046 | c.-21 others(2057): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 385 | chr6 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45924377 | A | AGTGGGTA others(2039): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 203 | 0.0049 | 2046 | c.718 others(2063): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251125 | C | CCACCACC others(2039): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 371 | 0.0027 | 2046 | c.*44 others(2057): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3110 | chr10 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 934853 | A | AGGCGGCT others(2039): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0166 | 1 | 361 | 0.0028 | 2046 | c.843 others(2061): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2040): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0010 | a0010c0015 | a0010c0015t0048 | a0010c0015t0048g0135 | 1 | 44 | 0.0227 | 2047 | c.108 others(2064): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185090 | C | CCCCCTTC others(2040): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0006 | a0006c0130 | a0006c0130t0001 | a0006c0130t0001g0165 | 1 | 147 | 0.0068 | 2047 | c.193 others(2066): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HOMEZ_chr14_23267422_23291132 | 23280696 | T | TTTATTTT others(2040): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0216 | 1 | 331 | 0.0030 | 2047 | c.41- others(2062): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTGGT others(2040): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG03130.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0091 a0002c0003t0002g0102 a0002c0003t0002g0108 |
3 | 19 | 0.1579 | 2047 | c.125 others(2064): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103250992 | T | TCCCACCA others(2040): Show |
downstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 237 | 0.0042 | 2047 | c.*43 others(2058): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 2977 | chr10 | TogoVar | |||||||
TMPRSS2_chr21_41459305_41513158 | 41474830 | A | AGTAAGGA others(2040): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0231 | 1 | 241 | 0.0041 | 2047 | c.728 others(2064): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(2040): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 317 | 0.0032 | 2047 | c.114 others(2064): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758346 | G | GACCACCT others(2041): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 291 | 0.0034 | 2048 | c.655 others(2067): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2041): Show |
intron_variant | MODIFIER | HG02293.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0054 | a0001c0001t0005g0339 a0001c0001t0054g0333 |
2 | 196 | 0.0102 | 2048 | c.648 others(2065): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2041): Show |
intron_variant | MODIFIER | HG02615.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0322 a0001c0001t0006g0323 |
2 | 196 | 0.0102 | 2048 | c.648 others(2065): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2041): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01884.hp2 HG02280.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0005g0329 a0001c0001t0005g0334 a0001c0001t0005g0344 others(14): Show |
17 | 211 | 0.0806 | 2048 | c.648 others(2065): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586254 | C | CCGGGGGG others(2041): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0222 | 1 | 242 | 0.0041 | 2048 | c.157 others(2063): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586499 | C | CGGGGGGG others(2041): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 271 | 0.0037 | 2048 | c.157 others(2065): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364375 | A | ACGCTTAC others(2041): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 259 | 0.0039 | 2048 | c.129 others(2067): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 72739131 | T | TTTTTTTT others(2041): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0052 | 1 | 178 | 0.0056 | 2048 | c.602 others(2065): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2042): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0103 | 1 | 44 | 0.0227 | 2049 | c.108 others(2066): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2042): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0327 | 1 | 195 | 0.0051 | 2049 | c.648 others(2066): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2042): Show |
intron_variant | MODIFIER | HG01175.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0342 a0001c0001t0008g0346 |
2 | 196 | 0.0102 | 2049 | c.648 others(2066): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619527 | T | TCCCCTCC others(2042): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 246 | 0.0041 | 2049 | c.-10 others(2068): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2042): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 8 | 0.1250 | 2049 | c.-23 others(2066): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185005 | C | CCCCTTCT others(2042): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0003 | a0003c0010 | a0003c0010t0003 | a0003c0010t0003g0073 | 1 | 172 | 0.0058 | 2049 | c.193 others(2068): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586538 | C | CAAAGGTG others(2042): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 198 | 0.0051 | 2049 | c.157 others(2066): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399426 | A | ACCACCAT others(2042): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0145 | 1 | 285 | 0.0035 | 2049 | c.-25 others(2066): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(2042): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0093 | a0093c0095 | a0093c0095t0001 | a0093c0095t0001g0162 | 1 | 31 | 0.0323 | 2049 | c.956 others(2066): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2042): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0136 | 1 | 32 | 0.0313 | 2049 | c.218 others(2064): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2043): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0026 | a0026c0029 | a0026c0029t0032 | a0026c0029t0032g0053 | 1 | 44 | 0.0227 | 2050 | c.108 others(2067): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2043): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0086 | 1 | 44 | 0.0227 | 2050 | c.108 others(2067): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar |