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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(993): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0084 | 1 | 24 | 0.0417 | 1000 | c.371 others(1017): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946849 | G | GGGGATGG others(993): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0193 | 1 | 245 | 0.0041 | 1000 | c.371 others(1017): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397832 | A | AGGGGGCC others(993): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0207 | 1 | 126 | 0.0079 | 1000 | c.227 others(1017): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(993): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 3 | 0.3333 | 1000 | c.159 others(1017): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099784 | C | CCCCCCCA others(993): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0011 | 1 | 64 | 0.0156 | 1000 | c.56- others(1017): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79512622 | C | CGGATACA others(993): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0113 | 1 | 128 | 0.0078 | 1000 | c.-31 others(1021): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(993): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0012 | a0012c0024 | a0012c0024t0001 | a0012c0024t0001g0176 | 1 | 100 | 0.0100 | 1000 | c.45- others(1015): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80274587 | T | TGGGGGGT others(993): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0075 | a0001c0075t0013 | a0001c0075t0013g0099 | 1 | 85 | 0.0118 | 1000 | c.261 others(1017): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(993): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0041 | a0001c0001t0008g0131 a0001c0001t0041g0139 |
2 | 4 | 0.5000 | 1000 | c.29- others(1015): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(993): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02074.hp1 HG02155.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0213 a0001c0001t0001g0248 a0001c0001t0002g0173 others(2): Show |
5 | 228 | 0.0219 | 1000 | c.107 others(1017): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(993): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 224 | 0.0045 | 1000 | c.107 others(1017): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(993): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 224 | 0.0045 | 1000 | c.107 others(1017): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(993): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0060 | 1 | 224 | 0.0045 | 1000 | c.107 others(1017): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325156 | G | GGGGGGCG others(993): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02895.hp2 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0066 a0002c0005t0001g0123 |
2 | 143 | 0.0140 | 1000 | c.531 others(1017): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852705 | T | TCCATCTT others(993): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 82 | 0.0122 | 1000 | c.646 others(1017): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(993): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 98 | 0.0102 | 1000 | c.41- others(1017): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GGCGCCTG others(994): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG01515.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0002 a0002c0003t0001g0012 |
4 | 200 | 0.0200 | 1001 | c.578 others(1014): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(994): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 8 | 0.1250 | 1001 | c.285 others(1020): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(994): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0106 | 1 | 8 | 0.1250 | 1001 | c.285 others(1020): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(994): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0202 | 1 | 72 | 0.0139 | 1001 | c.273 others(1018): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(994): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01943.hp2 HG02080.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 others(20): Show |
23 | 241 | 0.0954 | 1001 | c.327 others(1018): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(994): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 134 | 0.0075 | 1001 | c.403 others(1016): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(994): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0246 | 1 | 74 | 0.0135 | 1001 | c.937 others(1016): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(994): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0224 | 1 | 74 | 0.0135 | 1001 | c.937 others(1016): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(994): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01069.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0001g0088 others(45): Show |
49 | 122 | 0.4016 | 1001 | c.937 others(1016): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(994): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0084 | 1 | 74 | 0.0135 | 1001 | c.937 others(1016): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(994): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 1 | 13 | 0.0769 | 1001 | c.109 others(1020): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(994): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 302 | 0.0033 | 1001 | c.513 others(1018): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TCACTACT others(994): Show |
intron_variant | MODIFIER | NA18999.hp1 NA19070.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0068 a0001c0004t0002g0144 |
2 | 138 | 0.0145 | 1001 | c.724 others(1020): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(994): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0055 | 1 | 83 | 0.0120 | 1001 | c.724 others(1020): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397726 | C | CGGGGGGT others(994): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 325 | 0.0031 | 1001 | c.-42 others(1012): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4158 | chr16 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522783 | G | GCCCAGCC others(994): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0299 | 1 | 299 | 0.0033 | 1001 | c.236 others(1020): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911552 | G | GGTCTGTC others(994): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0056 | a0056c0082 | a0056c0082t0001 | a0056c0082t0001g0009 | 1 | 168 | 0.0060 | 1001 | c.101 others(1020): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 316301 | G | GACACACA others(994): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01123.hp2 HG01433.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 |
3 | 69 | 0.0435 | 1001 | c.487 others(1016): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316301 | G | GACACACA others(994): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0011 | 1 | 67 | 0.0149 | 1001 | c.487 others(1016): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997188 | G | GGTCGGGG others(994): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0007 | a0007c0009 | a0007c0009t0033 | a0007c0009t0033g0141 | 1 | 276 | 0.0036 | 1001 | c.-22 others(1012): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 482 | chr6 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 187138 | G | GGAGGAAC others(994): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0179 | 1 | 318 | 0.0031 | 1001 | c.*20 others(1012): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 1851 | chr16 | TogoVar | |||||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(994): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02572.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0007a0003c0005t0001 | a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 others(4): Show |
7 | 8 | 0.8750 | 1001 | c.27- others(1016): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(994): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(170): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(10): Show | a0001c0001t0001g0094 a0001c0001t0001g0108 a0001c0001t0002g0002 others(142): Show |
173 | 174 | 0.9943 | 1001 | c.27- others(1016): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(994): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126 | 1 | 2 | 0.5000 | 1001 | c.27- others(1016): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(994): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142 | 1 | 2 | 0.5000 | 1001 | c.27- others(1016): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(994): Show |
intron_variant | MODIFIER | NA18948.hp2 NA18951.hp2 NA18962.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 |
3 | 4 | 0.7500 | 1001 | c.27- others(1016): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(994): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 213 | 0.0047 | 1001 | c.250 others(1016): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
NME4_chr16_392199_405754 | 397726 | C | CGGGGGGT others(994): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0165 | 1 | 313 | 0.0032 | 1001 | c.91+ others(1014): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841443 | T | TCCTCCCG others(994): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0174 | 1 | 165 | 0.0061 | 1001 | c.361 others(1020): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OLFM1_chr9_135082668_135126180 | 135096118 | C | CTTCCCTC others(994): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0200 | 1 | 19 | 0.0526 | 1001 | c.456 others(1016): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237753 | A | ACTATAGT others(994): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 243 | 0.0041 | 1001 | c.-15 others(1012): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1532 | chr14 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(994): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0051 | 1 | 24 | 0.0417 | 1001 | c.371 others(1018): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133802 | T | TCCTCCCT others(994): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 154 | 0.0065 | 1001 | c.*23 others(1012): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2090 | chr19 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(994): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 3 | 0.3333 | 1001 | c.159 others(1018): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar |