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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNPTG_chr16_1346931_1369113 | 1367496 | CCCTCCCT others(66): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG02622.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 a0001c0001t0003g0108 a0001c0001t0003g0112 others(1): Show |
5 | 378 | 0.0132 | -73 | c.*44 others(84): Show |
GNPTG | ENSG00000090581.11 | transcript | ENST00000204679.9 | protein_coding | 3384 | chr16 | TogoVar | |||||||
GPR137B_chr1_236137539_236213907 | 236166456 | GTATATTA others(66): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02622.hp1 HG02723.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0110 a0001c0001t0001g0149 a0001c0001t0001g0173 others(7): Show |
10 | 386 | 0.0259 | -73 | c.415 others(90): Show |
GPR137B | ENSG00000077585.14 | transcript | ENST00000366592.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GRK5_chr10_119202571_119464745 | 119394398 | GTGTGGGC others(66): Show |
G | intron_variant | MODIFIER | HG02717.hp2 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0013 | a0001c0001t0004g0112 a0002c0003t0013g0020 |
2 | 202 | 0.0099 | -73 | c.262 others(90): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HAS1_chr19_51708112_51728991 | 51726931 | GCCCCATC others(66): Show |
G | upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0013 | 1 | 464 | 0.0022 | -73 | c.-30 others(84): Show |
HAS1 | ENSG00000105509.11 | transcript | ENST00000540069.7 | protein_coding | 2941 | chr19 | TogoVar | |||||||
HAUS8_chr19_17044729_17080452 | 17069432 | TCCTTCCT others(66): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0323 | 1 | 400 | 0.0025 | -73 | c.92- others(86): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 2/10 | chr19 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239345998 | TTGCACTC others(66): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02647.hp2 HG03041.hp1 others(1): Show |
a0001a0003a0005 | a0001c0001a0001c0022a0003c0018others(1): Show | a0001c0001t0003a0001c0022t0070a0003c0018t0001others(1): Show | a0001c0001t0003g0093 a0001c0022t0070g0094 a0003c0018t0001g0096 others(1): Show |
4 | 242 | 0.0165 | -73 | c.22+ others(88): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
HEATR6_chr17_60036008_60083921 | 60042897 | CGTCAGCA others(66): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02922.hp1 | a0010 | a0010c0012 | a0010c0012t0078 | a0010c0012t0078g0169 | 1 | 250 | 0.0040 | -73 | c.*59 others(82): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 20/20 | 593 | chr17 | TogoVar | ||||||
HEATR6_chr17_60036008_60083921 | 60042993 | TGGCTGTG others(66): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0031 | a0002c0002t0031g0220 | 1 | 250 | 0.0040 | -73 | c.*49 others(82): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 20/20 | 497 | chr17 | TogoVar | ||||||
HELZ2_chr20_63553086_63579239 | 63557818 | TGCCCTCC others(66): Show |
T | downstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG03239.hp2 |
a0004 | a0004c0004a0004c0008 | a0004c0004t0029a0004c0008t0025 | a0004c0004t0029g0010 a0004c0008t0025g0060 |
3 | 390 | 0.0077 | -73 | c.*13 others(84): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 267 | chr20 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63557832 | TCCTGCGC others(66): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp2 others(27): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0006a0002c0097others(13): Show | a0001c0001t0008a0001c0006t0003a0002c0097t0017others(16): Show | a0001c0001t0008g0016 a0001c0006t0003g0057 a0001c0006t0003g0180 others(23): Show |
30 | 390 | 0.0769 | -73 | c.*13 others(84): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 253 | chr20 | TogoVar | |||||||
HGSNAT_chr8_43135464_43207855 | 43181100 | AGAGGGAG others(66): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0211 | 1 | 234 | 0.0043 | -73 | c.101 others(91): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | chr8 | TogoVar | |||||||
HMCN2_chr9_130260760_130439123 | 130419670 | ACCTGGCA others(66): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02145.hp2 HG02280.hp2 others(7): Show |
a0003a0028a0066others(7): Show | a0003c0051a0028c0135a0066c0060others(7): Show | a0003c0051t0001a0028c0135t0002a0066c0060t0001others(7): Show | a0003c0051t0001g0088 a0028c0135t0002g0239 a0066c0060t0001g0116 others(7): Show |
10 | 258 | 0.0388 | -73 | c.132 others(92): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 86/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HMOX1_chr22_35376096_35399207 | 35389330 | CTTTCTTT others(66): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 384 | 0.0026 | -73 | c.637 others(88): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | chr22 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48834483 | GGGGCTGA others(66): Show |
G | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 394 | 0.0025 | -73 | c.128 others(88): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48834512 | GGAAGTAG others(66): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02622.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0306 a0002c0002t0001g0326 |
2 | 394 | 0.0051 | -73 | c.128 others(88): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48834818 | GCTGGGGG others(66): Show |
G | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0379 | 1 | 394 | 0.0025 | -73 | c.128 others(88): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48834852 | GGGGCTGA others(66): Show |
G | intron_variant | MODIFIER | HG02135.hp2 NA18998.hp1 NA19002.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0243 a0001c0001t0001g0244 a0002c0002t0001g0305 |
3 | 394 | 0.0076 | -73 | c.128 others(88): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48835001 | GGCTGAGG others(66): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01256.hp1 HG02145.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 others(3): Show |
6 | 394 | 0.0152 | -73 | c.128 others(88): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48835148 | GGCTGAGG others(66): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 394 | 0.0025 | -73 | c.127 others(88): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48836735 | CTCCCAGC others(66): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp2 NA18940.hp2 NA18947.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0065 others(4): Show |
7 | 394 | 0.0178 | -73 | c.-39 others(82): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 245 | chr19 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102311895 | TATCATAT others(66): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01069.hp2 others(16): Show |
a0004a0013 | a0004c0004a0013c0013 | a0004c0004t0001a0013c0013t0001 | a0004c0004t0001g0008 a0004c0004t0001g0009 a0004c0004t0001g0064 others(10): Show |
19 | 348 | 0.0546 | -73 | c.-15 others(90): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IL2RA_chr10_6005689_6067367 | 6022805 | CAGCCTTC others(66): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(117): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0176 others(111): Show |
120 | 414 | 0.2899 | -73 | c.368 others(90): Show |
IL2RA | ENSG00000134460.19 | transcript | ENST00000379959.8 | protein_coding | 3/7 | chr10 | TogoVar | |||||||
IL33_chr9_6210807_6262983 | 6218842 | CATATATA others(66): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG02300.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0037 a0001c0001t0005g0038 a0001c0001t0005g0039 others(2): Show |
5 | 362 | 0.0138 | -73 | c.-12 others(90): Show |
IL33 | ENSG00000137033.12 | transcript | ENST00000682010.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
INPP5E_chr9_136423619_136444845 | 136431521 | CAGGCCCT others(66): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02886.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0018 a0001c0006t0004g0196 |
4 | 382 | 0.0105 | -73 | c.154 others(90): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | |||||||
INSIG2_chr2_118083471_118115997 | 118093319 | GAGGAGGA others(66): Show |
G | intron_variant | MODIFIER | HG02083.hp2 HG03471.hp1 HG03471.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 others(7): Show |
10 | 440 | 0.0227 | -73 | c.-13 others(92): Show |
INSIG2 | ENSG00000125629.16 | transcript | ENST00000245787.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154357861 | AAAATATA others(66): Show |
A | upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 264 | 0.0038 | -73 | c.-13 others(84): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1059 | chr6 | TogoVar | |||||||
IQCG_chr3_197884077_197964991 | 197904038 | ACATATAT others(66): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG01358.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0273 a0001c0001t0002g0002 a0001c0001t0002g0004 others(12): Show |
15 | 280 | 0.0536 | -73 | c.963 others(90): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 9/11 | chr3 | TogoVar | |||||||
ISG20_chr15_88634016_88661483 | 88652390 | CCCTCCTC others(66): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01891.hp2 HG02015.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0087 a0001c0001t0004g0065 a0001c0001t0004g0088 others(7): Show |
16 | 436 | 0.0367 | -73 | c.429 others(88): Show |
ISG20 | ENSG00000172183.16 | transcript | ENST00000306072.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ISG20_chr15_88634016_88661483 | 88652421 | CCCCCTCC others(66): Show |
C | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 436 | 0.0023 | -73 | c.429 others(88): Show |
ISG20 | ENSG00000172183.16 | transcript | ENST00000306072.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
JAM3_chr11_134064072_134157001 | 134137670 | TAAGTCGT others(66): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp1 HG02818.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0020others(2): Show | a0001c0001t0001g0069 a0001c0001t0001g0089 a0001c0001t0008g0071 others(6): Show |
10 | 390 | 0.0256 | -73 | c.77- others(88): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JAM3_chr11_134064072_134157001 | 134138271 | ACTGGAAG others(66): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0057 | 1 | 390 | 0.0026 | -73 | c.77- others(88): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JAM3_chr11_134064072_134157001 | 134138367 | CTAGTCCC others(66): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01255.hp2 HG02015.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0286 a0001c0001t0002g0192 a0001c0001t0002g0193 others(3): Show |
6 | 390 | 0.0154 | -73 | c.77- others(88): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44133946 | TATATATA others(66): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(45): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0241 a0001c0001t0001g0250 others(43): Show |
48 | 338 | 0.1420 | -73 | c.117 others(94): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
KANK4_chr1_62231165_62324434 | 62278325 | CTTCCTTC others(66): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG00738.hp2 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0027a0002c0008a0003c0005others(4): Show | a0001c0027t0003a0002c0008t0001a0002c0008t0003others(13): Show | a0001c0027t0003g0003 a0002c0008t0001g0146 a0002c0008t0001g0147 others(24): Show |
27 | 322 | 0.0839 | -73 | c.16+ others(88): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
KATNB1_chr16_57730770_57762244 | 57746561 | CGGTGCCT others(66): Show |
C | intron_variant | MODIFIER | HG02165.hp2 NA18973.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0207 a0001c0009t0001g0182 |
2 | 402 | 0.0050 | -73 | c.289 others(90): Show |
KATNB1 | ENSG00000140854.13 | transcript | ENST00000379661.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997284 | GGGGGGTC others(66): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0068 a0001c0003t0004g0069 |
2 | 375 | 0.0053 | -73 | c.-21 others(84): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 386 | chr6 | TogoVar | |||||||
KIF26B_chr1_245149985_245714432 | 245344130 | CTTTCTCT others(66): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0007 | a0001c0007t0072 | a0001c0007t0072g0018 | 1 | 160 | 0.0063 | -73 | c.466 others(92): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87704381 | CCTGAACA others(66): Show |
C | downstream_gene_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0168 | 1 | 380 | 0.0026 | -73 | c.*36 others(84): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 3430 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87726200 | CCCGCGCC others(66): Show |
C | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 380 | 0.0026 | -73 | c.759 others(88): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 7/11 | chr16 | TogoVar | |||||||
KLHL17_chr1_955584_970719 | 964625 | GGGGCGCG others(66): Show |
G | intron_variant | MODIFIER | HG01993.hp1 HG02056.hp1 HG02056.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(1): Show | a0001c0001t0001g0009 a0001c0001t0004g0026 a0001c0001t0017g0009 others(1): Show |
9 | 432 | 0.0208 | -73 | c.170 others(89): Show |
KLHL17 | ENSG00000187961.15 | transcript | ENST00000338591.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KLK14_chr19_51072897_51087887 | 51077610 | CTCCTGGG others(66): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG01433.hp2 others(23): Show |
a0002a0003a0006others(2): Show | a0002c0002a0003c0003a0006c0010others(2): Show | a0002c0002t0002a0003c0003t0002a0006c0010t0002others(2): Show | a0002c0002t0002g0075 a0002c0002t0002g0089 a0003c0003t0002g0014 others(10): Show |
26 | 444 | 0.0586 | -73 | c.*32 others(82): Show |
KLK14 | ENSG00000129437.11 | transcript | ENST00000650543.2 | protein_coding | 286 | chr19 | TogoVar | |||||||
KLK14_chr19_51072897_51087887 | 51077743 | ACTGGGGC others(66): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00735.hp1 others(46): Show |
a0002a0003a0004others(2): Show | a0002c0002a0003c0003a0004c0004others(2): Show | a0002c0002t0001a0003c0003t0001a0004c0004t0001others(2): Show | a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0011 others(13): Show |
49 | 444 | 0.1104 | -73 | c.*19 others(82): Show |
KLK14 | ENSG00000129437.11 | transcript | ENST00000650543.2 | protein_coding | 153 | chr19 | TogoVar | |||||||
LACTBL1_chr1_22948043_22977866 | 22970697 | CTACTTGG others(66): Show |
C | intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0129 | 1 | 450 | 0.0022 | -73 | c.12+ others(88): Show |
LACTBL1 | ENSG00000215906.9 | transcript | ENST00000426928.7 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124506650 | AGGGTAGG others(66): Show |
A | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 260 | 0.0039 | -73 | c.624 others(90): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124506656 | GGGAGGAT others(66): Show |
G | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 260 | 0.0039 | -73 | c.624 others(90): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124506692 | GGTTGGCG others(66): Show |
G | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 260 | 0.0039 | -73 | c.624 others(90): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507108 | GCAGGGGT others(66): Show |
G | intron_variant | MODIFIER | HG02015.hp1 NA18945.hp2 NA18966.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0077 a0001c0001t0001g0133 others(1): Show |
4 | 260 | 0.0154 | -73 | c.624 others(90): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
LMAN2_chr5_177326567_177356668 | 177326869 | GAGAAAGA others(66): Show |
G | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 376 | 0.0027 | -73 | c.*51 others(84): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4697 | chr5 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858939 | GCAGTGGT others(66): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG03098.hp1 HG03453.hp1 |
a0001a0006 | a0001c0026a0006c0049 | a0001c0026t0001a0006c0049t0001 | a0001c0026t0001g0234 a0001c0026t0001g0235 a0006c0049t0001g0243 |
3 | 294 | 0.0102 | -73 | c.153 others(92): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859316 | GCAGTGTT others(66): Show |
G | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0078 | 1 | 294 | 0.0034 | -73 | c.153 others(92): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar |