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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CYP20A1_chr2_203234018_203311026 | 203251815 | A | ATATATGT others(287): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0193 | 1 | 218 | 0.0046 | 294 | c.290 others(309): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CYP20A1_chr2_203234018_203311026 | 203251815 | A | ATATATGT others(287): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0002 | a0002c0002t0047 | a0002c0002t0047g0192 | 1 | 218 | 0.0046 | 294 | c.290 others(309): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DECR2_chr16_396885_417482 | 397707 | T | TGTGGGGG others(287): Show |
upstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 164 | 0.0061 | 294 | c.-42 others(305): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4177 | chr16 | TogoVar | |||||||
DGKE_chr17_56829151_56874567 | 56870208 | T | TAAGAAAT others(287): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00738.hp2 others(25): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0003g0005 others(15): Show |
28 | 141 | 0.1986 | 294 | c.*74 others(305): Show |
DGKE | ENSG00000153933.10 | transcript | ENST00000284061.8 | protein_coding | 642 | chr17 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 322731 | C | CTGTTAGA others(287): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 69 | 0.0145 | 294 | c.392 others(313): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 323104 | C | CTCCAGTG others(287): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0055 | 1 | 80 | 0.0125 | 294 | c.392 others(313): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1206466 | G | GTTAATCT others(287): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0001 | 1 | 21 | 0.0476 | 294 | c.74- others(311): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1206484 | G | GTGGACTG others(287): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 34 | 0.0294 | 294 | c.74- others(311): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1206550 | G | GTTAATCT others(287): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01361.hp2 HG02071.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0012a0002c0001 | a0001c0002t0023a0001c0012t0004a0002c0001t0011others(1): Show | a0001c0002t0023g0005 a0001c0012t0004g0036 a0002c0001t0011g0002 others(1): Show |
4 | 17 | 0.2353 | 294 | c.74- others(311): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32554924 | A | AGAAAGAA others(287): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0028 | a0028c0028 | a0028c0028t0004 | a0028c0028t0004g0024 | 1 | 96 | 0.0104 | 294 | c.199 others(313): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237115 | G | GAGGGGGA others(287): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 328 | 0.0030 | 294 | c.*29 others(305): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2835 | chr11 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 127263366 | A | ATTAATAT others(287): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 34 | 0.0294 | 294 | c.304 others(313): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 29/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 127263366 | A | ATTAATAT others(287): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(97): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(58): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(69): Show | a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0032 others(97): Show |
100 | 133 | 0.7519 | 294 | c.304 others(313): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 29/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400584 | T | TCACCACC others(287): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0009 | a0009c0015 | a0009c0015t0007 | a0009c0015t0007g0062 | 1 | 207 | 0.0048 | 294 | c.323 others(313): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619557 | T | TCCCCTCC others(287): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0136 | 1 | 203 | 0.0049 | 294 | c.-10 others(313): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18675822 | A | ATGTAAAT others(287): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0361 a0001c0001t0004g0362 |
2 | 273 | 0.0073 | 294 | c.477 others(313): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18675842 | A | ATATTTAC others(287): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0248 | 1 | 3 | 0.3333 | 294 | c.477 others(313): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18675842 | A | ATATTTAC others(287): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01361.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(2): Show | a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 others(15): Show |
18 | 20 | 0.9000 | 294 | c.477 others(313): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18675842 | A | ATATTTAC others(287): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0356 | 1 | 3 | 0.3333 | 294 | c.477 others(313): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18675842 | A | ATATTTAC others(287): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0140 a0001c0001t0004g0157 |
2 | 4 | 0.5000 | 294 | c.477 others(313): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917404 | A | AACACCTC others(287): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00597.hp2 others(19): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0003a0001c0001t0019a0001c0020t0003 | a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 others(19): Show |
22 | 272 | 0.0809 | 294 | c.179 others(313): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129920273 | G | GAGTATCT others(287): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0071 | 1 | 307 | 0.0033 | 294 | c.554 others(313): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315483 | A | ATCACCAC others(287): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01258.hp2 HG01516.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0071 others(3): Show |
6 | 226 | 0.0265 | 294 | c.259 others(313): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315851 | A | ATCACCAC others(287): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 211 | 0.0047 | 294 | c.259 others(313): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3316062 | C | CTACCACC others(287): Show |
intron_variant | MODIFIER | HG00621.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0059 |
2 | 114 | 0.0175 | 294 | c.259 others(313): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 666897 | T | TGATGGAG others(287): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 386 | 0.0026 | 294 | c.*74 others(305): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3420 | chr18 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914629 | G | GTCTCTCC others(287): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 314 | 0.0032 | 294 | c.-13 others(311): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
FAM167A_chr8_11416476_11471753 | 11456114 | A | ATGTGGGG others(287): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG02109.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0002g0103 a0001c0001t0002g0290 a0001c0001t0002g0292 others(9): Show |
12 | 372 | 0.0323 | 294 | c.-39 others(315): Show |
FAM167A | ENSG00000154319.16 | transcript | ENST00000284486.9 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
FAM8A1_chr6_17595302_17616715 | 17596493 | C | CAAAAGAG others(287): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG03098.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0015 a0001c0001t0006g0054 |
4 | 368 | 0.0109 | 294 | c.-39 others(305): Show |
FAM8A1 | ENSG00000137414.7 | transcript | ENST00000259963.4 | protein_coding | 3808 | chr6 | TogoVar | |||||||
FBRSL1_chr12_132485151_132590188 | 132576199 | T | TTTTTTTT others(287): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03710.hp1 |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0091 a0001c0005t0005g0092 |
2 | 321 | 0.0062 | 294 | c.170 others(311): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FGFR4_chr5_177081915_177103144 | 177096905 | T | TTCCTCCT others(287): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0076 | 1 | 220 | 0.0045 | 294 | c.215 others(311): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FHAD1_chr1_15242223_15403328 | 15314635 | G | GTGGGTGT others(287): Show |
intron_variant | MODIFIER | HG02897.hp2 HG02965.hp2 HG02970.hp1 others(3): Show |
a0005a0017a0047others(1): Show | a0005c0070a0017c0020a0047c0103others(1): Show | a0005c0070t0035a0017c0020t0022a0047c0103t0051others(1): Show | a0005c0070t0035g0287 a0017c0020t0022g0239 a0017c0020t0022g0240 others(3): Show |
6 | 170 | 0.0353 | 294 | c.117 others(313): Show |
FHAD1 | ENSG00000142621.21 | transcript | ENST00000688493.1 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FIG4_chr6_109686296_109830426 | 109781773 | C | CAGATTTT others(287): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0309 | 1 | 260 | 0.0038 | 294 | c.189 others(313): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FIG4_chr6_109686296_109830426 | 109781773 | C | CAGATTTT others(287): Show |
intron_variant | MODIFIER | HG00099.hp2 NA18961.hp1 NA19091.hp1 |
a0001a0004 | a0001c0003a0004c0006 | a0001c0003t0001a0004c0006t0001 | a0001c0003t0001g0243 a0001c0003t0001g0253 a0004c0006t0001g0337 |
3 | 262 | 0.0115 | 294 | c.189 others(313): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586205 | G | GCGGGGGG others(287): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0097 | 1 | 293 | 0.0034 | 294 | c.157 others(307): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586244 | G | GAAAGGTA others(287): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 206 | 0.0049 | 294 | c.157 others(309): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361198 | G | GCACTACC others(287): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0011 | 1 | 139 | 0.0072 | 294 | c.544 others(313): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71139606 | A | ATGGGAAA others(287): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0067a0001c0001t0068 | a0001c0001t0067g0002 a0001c0001t0068g0060 |
2 | 89 | 0.0225 | 294 | c.181 others(313): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 6/20 | chr3 | TogoVar | |||||||
FRK_chr6_115926149_116065891 | 115985917 | T | TAGAATGC others(287): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(28): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0026a0002c0002t0001a0002c0002t0002others(9): Show | a0001c0001t0026g0270 a0002c0002t0001g0005 a0002c0002t0001g0013 others(28): Show |
31 | 213 | 0.1455 | 294 | c.467 others(313): Show |
FRK | ENSG00000111816.8 | transcript | ENST00000606080.2 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46145767 | C | CCCGCCCT others(287): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0100 | 1 | 170 | 0.0059 | 294 | c.109 others(309): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 9/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46145767 | C | CCGCCCTC others(287): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 170 | 0.0059 | 294 | c.109 others(309): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 9/13 | chr21 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(287): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0148 | 1 | 19 | 0.0526 | 294 | c.-20 others(303): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21697084 | A | ACAGAGGA others(287): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0054 | 1 | 7 | 0.1429 | 294 | c.121 others(313): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21697084 | A | ACAGAGGA others(287): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(296): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(84): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 others(295): Show |
299 | 305 | 0.9803 | 294 | c.121 others(313): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21697084 | A | ACAGAGGA others(287): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02970.hp1 |
a0001 | a0001c0006 | a0001c0006t0021 | a0001c0006t0021g0206 a0001c0006t0021g0211 |
2 | 8 | 0.2500 | 294 | c.121 others(313): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21697084 | A | ACAGAGGA others(287): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18961.hp1 NA18963.hp1 others(6): Show |
a0003 | a0003c0008a0003c0027 | a0003c0008t0011a0003c0008t0013a0003c0027t0013 | a0003c0008t0011g0241 a0003c0008t0011g0246 a0003c0008t0011g0255 others(6): Show |
9 | 15 | 0.6000 | 294 | c.121 others(313): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
GLDC_chr9_6527467_6650729 | 6629957 | A | ATAATATA others(287): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18522.hp1 |
a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0162 a0001c0005t0010g0245 |
2 | 172 | 0.0116 | 294 | c.335 others(311): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3876693 | G | GGGAGGAA others(287): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01071.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0039a0002c0002t0001a0002c0002t0072 | a0001c0001t0039g0008 a0002c0002t0001g0096 a0002c0002t0001g0179 others(1): Show |
4 | 17 | 0.2353 | 294 | c.229 others(313): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3876693 | G | GGGAGGAA others(287): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0002 | a0002c0002t0065 | a0002c0002t0065g0097 | 1 | 14 | 0.0714 | 294 | c.229 others(313): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3876693 | G | GGGAGGAA others(287): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0004 | a0004c0003 | a0004c0003t0015 | a0004c0003t0015g0056 | 1 | 14 | 0.0714 | 294 | c.229 others(313): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar |