| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ARHGEF10_chr8_1818926_1963641 | 1888941 | CGAGACAC others(819): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG02258.hp1 HG02280.hp2 others(9): Show |
a0001a0004a0022others(1): Show | a0001c0002a0001c0007a0001c0012others(5): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0026others(7): Show | a0001c0002t0001g0211a0001c0002t0001g0267a0001c0002t0003g0348others(9): Show | 12 | 363 | 0.0331 | -826 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RABEP1_chr17_5277284_5391340 | 5366553 | TTCCTGCC others(819): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0007 | a0001c0007t0011 | a0001c0007t0011g0247 | 1 | 352 | 0.0028 | -826 | c.178 others(18): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SHISAL1_chr22_44238665_44317951 | 44265187 | AAGGGAGA others(819): Show |
A | intron_variant | MODIFIER | NA18612.hp1 NA19003.hp2 |
a0001 | a0001c0062a0001c0102 | a0001c0062t0002a0001c0102t0059 | a0001c0062t0002g0292a0001c0102t0059g0218 | 2 | 380 | 0.0053 | -826 | c.600 others(19): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1639517 | ACATGAGG others(818): Show |
A | intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0073 | 1 | 223 | 0.0045 | -825 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DBNDD1_chr16_89999871_90024456 | 90003460 | CGGCCCGG others(818): Show |
C | downstream_gene_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 412 | 0.0024 | -825 | c.*20 others(11): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1410 | chr16 | TogoVar | ||||||
| DHRS12_chr13_51762993_51809163 | 51774431 | CCTACATG others(818): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01256.hp1 HG01258.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0256a0003c0003t0001g0045a0003c0003t0001g0235 | 4 | 420 | 0.0095 | -825 | c.364 others(16): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
| FOXQ1_chr6_1307098_1319758 | 1318933 | CGGTGGCG others(818): Show |
C | downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 406 | 0.0025 | -825 | c.*50 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4176 | chr6 | TogoVar | ||||||
| MYT1L_chr2_1784113_2336275 | 2003942 | AGTTCTTT others(818): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0096 | 1 | 104 | 0.0096 | -825 | c.-15 others(19): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | ||||||
| S1PR4_chr19_3173769_3185332 | 3173922 | TCTCATGG others(818): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 418 | 0.0048 | -825 | c.-48 others(11): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 4846 | chr19 | TogoVar | ||||||
| UNKL_chr16_1358205_1419704 | 1373149 | ATGGAACA others(818): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03225.hp2 NA20129.hp2 |
a0001 | a0001c0003 | a0001c0003t0032a0001c0003t0070 | a0001c0003t0032g0062a0001c0003t0032g0063a0001c0003t0070g0064 | 3 | 322 | 0.0093 | -825 | c.126 others(19): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 10/14 | chr16 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1288746 | TCTGCTCC others(817): Show |
T | downstream_gene_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0216 | 1 | 295 | 0.0034 | -824 | c.*39 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3644 | chr1 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1640310 | GCTCTCCT others(817): Show |
G | intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 223 | 0.0045 | -824 | c.911 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | chrX | TogoVar | ||||||
| EXT1_chr8_117789490_118116826 | 117862528 | CTTCAGTA others(817): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(8): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0003t0002a0001c0003t0007others(4): Show | a0001c0003t0001g0047a0001c0003t0002g0098a0001c0003t0002g0106others(8): Show | 11 | 190 | 0.0579 | -824 | c.963 others(19): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
| FMN2_chr1_240086883_240480187 | 240451194 | TGTCTCTA others(817): Show |
T | intron_variant | MODIFIER | NA20300.hp1 | a0013 | a0013c0020 | a0013c0020t0001 | a0013c0020t0001g0082 | 1 | 174 | 0.0058 | -824 | c.506 others(21): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RPH3AL_chr17_207389_357807 | 287412 | ACCTCGCA others(817): Show |
A | intron_variant | MODIFIER | HG00280.hp1 NA19003.hp2 NA19004.hp1 others(1): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0115a0001c0001t0002g0010a0001c0001t0003g0051others(1): Show | 4 | 133 | 0.0301 | -824 | c.352 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43280764 | ATTGGCCA others(817): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0002 | a0002c0002t0050 | a0002c0002t0050g0204 | 1 | 280 | 0.0036 | -824 | c.484 others(18): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | ||||||
| CPNE4_chr3_131528569_132040014 | 131827305 | CCTCACTG others(816): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 94 | 0.0106 | -823 | c.180 others(19): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | ||||||
| DCLK2_chr4_150073445_150262438 | 150105351 | ATAAAAGT others(816): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0008 | a0002c0008t0006 | a0002c0008t0006g0032 | 1 | 116 | 0.0086 | -823 | c.756 others(17): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ERICH1_chr8_659200_736224 | 675595 | CGGCGAGG others(816): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0233 | 2 | 378 | 0.0053 | -823 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| MTREX_chr5_55302989_55430579 | 55329778 | CTCTGGCT others(816): Show |
C | intron_variant | MODIFIER | HG01081.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214a0001c0001t0001g0215 | 2 | 320 | 0.0063 | -823 | c.515 others(16): Show |
MTREX | ENSG00000039123.16 | transcript | ENST00000230640.10 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PRPF6_chr20_63976132_64038100 | 64011752 | ATTTCTTT others(816): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0213 | 1 | 294 | 0.0034 | -823 | c.152 others(18): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| UNKL_chr16_1358205_1419704 | 1372990 | GGCACACC others(816): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG03209.hp2 |
a0001 | a0001c0008 | a0001c0008t0027a0001c0008t0028 | a0001c0008t0027g0011a0001c0008t0028g0008a0001c0008t0028g0010 | 3 | 322 | 0.0093 | -823 | c.126 others(19): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 10/14 | chr16 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827245 | CTGAGCGG others(816): Show |
C | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0117 | 1 | 200 | 0.0050 | -823 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827434 | CCACTGAG others(816): Show |
C | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0159 | 1 | 200 | 0.0050 | -823 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| ALOX15_chr17_4625919_4646678 | 4640467 | TAATTCCA others(815): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01943.hp1 HG02056.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011a0001c0001t0001g0060a0001c0001t0001g0061others(4): Show | 14 | 472 | 0.0297 | -822 | c.135 others(15): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
| ALOX15_chr17_4625919_4646678 | 4640484 | AGTAGCGG others(815): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG04228.hp2 NA18941.hp2 others(8): Show |
a0001a0007 | a0001c0001a0001c0010a0007c0012 | a0001c0001t0001a0001c0010t0001a0007c0012t0001 | a0001c0001t0001g0032a0001c0001t0001g0188a0001c0001t0001g0189others(6): Show | 11 | 472 | 0.0233 | -822 | c.135 others(15): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
| ALOX15_chr17_4625919_4646678 | 4640524 | AACTGCCC others(815): Show |
A | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 472 | 0.0021 | -822 | c.135 others(15): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
| CREB3L2_chr7_137869979_138007086 | 137888261 | AGCACCAT others(815): Show |
A | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 288 | 0.0035 | -822 | c.104 others(19): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 8/11 | chr7 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565244 | GGGGTGAC others(815): Show |
G | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 | 1 | 340 | 0.0029 | -822 | c.641 others(14): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565484 | TGTCTGTG others(815): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 340 | 0.0029 | -822 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| EIF3CL_chr16_28374715_28408841 | 28405960 | TTTTATTC others(815): Show |
T | upstream_gene_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094 | 1 | 172 | 0.0058 | -822 | c.-30 others(11): Show |
EIF3CL | ENSG00000205609.13 | transcript | ENST00000380876.5 | protein_coding | 2120 | chr16 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1637297 | TCATGAGG others(814): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01517.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0157a0002c0002t0002g0191 | 2 | 223 | 0.0090 | -821 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DCBLD2_chr3_98790941_98906695 | 98836796 | GGACGGGG others(814): Show |
G | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0322 | 1 | 330 | 0.0030 | -821 | c.571 others(19): Show |
DCBLD2 | ENSG00000057019.16 | transcript | ENST00000326840.11 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805503 | GACCTCCG others(814): Show |
G | downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 314 | 0.0032 | -821 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1217 | chr2 | TogoVar | ||||||
| GLOD4_chr17_754330_787280 | 764751 | GTAATCCC others(814): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00558.hp2 others(41): Show |
a0001a0005 | a0001c0001a0001c0007a0005c0009 | a0001c0001t0001a0001c0007t0001a0005c0009t0001 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0021others(30): Show | 44 | 420 | 0.1048 | -821 | c.831 others(17): Show |
GLOD4 | ENSG00000167699.14 | transcript | ENST00000301329.11 | protein_coding | 8/8 | chr17 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805503 | GACCTCCG others(814): Show |
G | upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 319 | 0.0031 | -821 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3689 | chr2 | TogoVar | ||||||
| PANK2_chr20_3884387_3934887 | 3914036 | GCCTTGGC others(814): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0013 | 2 | 422 | 0.0047 | -821 | c.108 others(19): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1396653 | TCCTCTCC others(813): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0038 | a0002c0002t0038g0048 | 1 | 106 | 0.0094 | -820 | c.101 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| CBX1_chr17_48065059_48106478 | 48089162 | GTGATCTC others(813): Show |
G | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041a0001c0001t0002g0042 | 2 | 396 | 0.0051 | -820 | c.-38 others(19): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| SGTA_chr19_2749715_2788273 | 2773162 | TCCGAGGG others(813): Show |
T | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0165 | 1 | 396 | 0.0025 | -820 | c.-23 others(17): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CALN1_chr7_71774491_72417338 | 72291997 | ATCTCAAA others(812): Show |
A | intron_variant | MODIFIER | HG03098.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0033 | a0001c0001t0005g0006a0001c0001t0033g0115 | 2 | 142 | 0.0141 | -819 | c.120 others(19): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 2/6 | chr7 | TogoVar | ||||||
| CDH13_chr16_82621969_83805640 | 83657852 | CAGGTCCC others(812): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0066 | 1 | 110 | 0.0091 | -819 | c.110 others(21): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CEP72_chr5_607340_658553 | 630202 | GCCCAGTC others(812): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(13): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(12): Show | 16 | 91 | 0.1758 | -819 | c.513 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CHMP1B_chr18_11846413_11859444 | 11855828 | CGGGCATG others(812): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02486.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0028 | a0001c0001t0004g0000a0001c0001t0028g0000 | 13 | 438 | 0.0297 | -819 | c.*37 others(11): Show |
CHMP1B | ENSG00000255112.3 | transcript | ENST00000526991.3 | protein_coding | 1385 | chr18 | TogoVar | ||||||
| CROCC2_chr2_240901336_240998311 | 240923766 | GCCCCCAC others(812): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp1 NA19240.hp2 |
a0011a0023 | a0011c0043a0023c0054a0023c0055 | a0011c0043t0001a0023c0054t0001a0023c0055t0001 | a0011c0043t0001g0171a0023c0054t0001g0189a0023c0055t0001g0172 | 3 | 350 | 0.0086 | -819 | c.488 others(17): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GNAL_chr18_11684264_11890685 | 11855828 | CGGGCATG others(812): Show |
C | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp1 HG02145.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0003a0001c0001t0031a0001c0001t0060others(8): Show | a0001c0001t0003g0069a0001c0001t0003g0093a0001c0001t0031g0011others(9): Show | 12 | 248 | 0.0484 | -819 | c.723 others(17): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11747085_11890685 | 11855828 | CGGGCATG others(812): Show |
C | intron_variant | MODIFIER | HG01952.hp1 HG02055.hp2 HG02145.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0035a0001c0001t0041others(8): Show | a0001c0001t0003g0068a0001c0001t0003g0072a0001c0001t0035g0073others(9): Show | 12 | 284 | 0.0423 | -819 | c.492 others(17): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| L3MBTL4_chr18_5949717_6419911 | 6272635 | GGAGTTGT others(812): Show |
G | intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 | 1 | 94 | 0.0106 | -819 | c.128 others(17): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | ||||||
| PUM1_chr1_30926506_31070717 | 31041533 | TCTGGGTC others(812): Show |
T | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 334 | 0.0030 | -819 | c.364 others(19): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | ||||||
| TBC1D2_chr9_98194011_98260649 | 98238007 | GATTCTCC others(812): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(60): Show |
a0003a0005a0006others(2): Show | a0003c0004a0003c0009a0003c0011others(10): Show | a0003c0004t0001a0003c0004t0003a0003c0009t0001others(11): Show | a0003c0004t0001g0005a0003c0004t0001g0045a0003c0004t0001g0283others(58): Show | 63 | 366 | 0.1721 | -819 | c.647 others(17): Show |
TBC1D2 | ENSG00000095383.20 | transcript | ENST00000465784.7 | protein_coding | 3/12 | chr9 | TogoVar |