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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPRT_chr20_42067756_43194906 | 42883696 | T | TCCCATAC others(338): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03195.hp2 |
a0001a0005 | a0001c0002a0005c0028 | a0001c0002t0003a0005c0028t0027 | a0001c0002t0003g0040a0005c0028t0027g0042 | 2 | 62 | 0.0323 | 345 | c.214 others(362): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 2/30 | chr20 | TogoVar | ||||||
RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(338): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0049 | 1 | 62 | 0.0161 | 345 | c.*13 others(358): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | ||||||
RALGPS2_chr1_178720244_178926840 | 178723646 | T | TCAGTTTT others(338): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG02523.hp1 HG02602.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(1): Show | a0001c0001t0001g0060a0001c0001t0006g0048a0001c0001t0006g0049others(3): Show | 6 | 306 | 0.0196 | 345 | c.-18 others(356): Show |
RALGPS2 | ENSG00000116191.19 | transcript | ENST00000367635.8 | protein_coding | 1597 | chr1 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114099697 | A | ACAGCCCC others(338): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 67 | 0.0149 | 345 | c.56- others(362): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RBL1_chr20_36991349_37100997 | 37093331 | T | TACATTTG others(338): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0244 | 1 | 354 | 0.0028 | 345 | c.156 others(362): Show |
RBL1 | ENSG00000080839.12 | transcript | ENST00000373664.8 | protein_coding | 1/21 | chr20 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(338): Show |
downstream_gene_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0033 | 1 | 318 | 0.0031 | 345 | c.*36 others(356): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(338): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 | 1 | 318 | 0.0031 | 345 | c.*36 others(356): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8441930 | T | TCAATACA others(338): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0097 | 1 | 204 | 0.0049 | 345 | c.120 others(366): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 11/22 | chr1 | TogoVar | ||||||
RFC1_chr4_39282456_39371362 | 39348424 | A | AAAAAGAA others(338): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 276 | 0.0036 | 345 | c.132 others(362): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | ||||||
RFX3_chr9_3213297_3531001 | 3318149 | T | TAAGAAAA others(338): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0100 | 1 | 196 | 0.0051 | 345 | c.474 others(364): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 4/16 | chr9 | TogoVar | ||||||
RFX3_chr9_3213297_3531001 | 3504795 | T | TTATATGC others(338): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0072a0001c0001t0073 | a0001c0001t0026g0196a0001c0001t0072g0193a0001c0001t0073g0192 | 3 | 196 | 0.0153 | 345 | c.-9+ others(362): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
RNF17_chr13_24759169_24884921 | 24881860 | A | ATATATAG others(338): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0185 | 1 | 426 | 0.0024 | 345 | c.*21 others(356): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 1940 | chr13 | TogoVar | ||||||
ROCK2_chr2_11174759_11349636 | 11286234 | T | TTAAGCAG others(338): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0078 | 1 | 320 | 0.0031 | 345 | c.324 others(360): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 3/32 | chr2 | TogoVar | ||||||
RP1L1_chr8_10601349_10660143 | 10610119 | T | TTTCTTTA others(338): Show |
conservative_inframe_insertion | MODERATE | HG02572.hp1 | a0071 | a0071c0181 | a0071c0181t0011 | a0071c0181t0011g0244 | 1 | 414 | 0.0024 | 345 | c.397 others(354): Show |
p.Lys others(360): Show |
RP1L1 | ENSG00000183638.6 | transcript | ENST00000382483.4 | protein_coding | 4/4 | 4243/8014 | 3978/7203 | 1326/2400 | chr8 | TogoVar | ||
RPH3AL_chr17_207389_357807 | 303485 | A | AAGGCTGT others(338): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 133 | 0.0075 | 345 | c.351 others(364): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 303623 | G | GAGGCTGT others(338): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0028 | a0001c0003t0028g0088 | 1 | 133 | 0.0075 | 345 | c.351 others(364): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 303722 | A | AGCAGTGA others(338): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 133 | 0.0075 | 345 | c.351 others(364): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 303899 | G | GAGGCTGT others(338): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0044 | 1 | 133 | 0.0075 | 345 | c.351 others(364): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80963564 | G | GTGCGGCC others(338): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02897.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0007a0001c0009a0001c0039others(2): Show | a0001c0007t0030a0001c0009t0001a0001c0039t0061others(2): Show | a0001c0007t0030g0018a0001c0009t0001g0125a0001c0039t0061g0177others(2): Show | 5 | 196 | 0.0255 | 345 | c.393 others(362): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RTN4IP1_chr6_106565771_106634498 | 106589237 | G | GGAGGAGG others(338): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0193 | 1 | 396 | 0.0025 | 345 | c.807 others(362): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133669269 | C | CTCTCTCC others(338): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0013 | a0003c0013t0004 | a0003c0013t0004g0052 | 1 | 262 | 0.0038 | 345 | c.249 others(364): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1156927 | C | CAGGACCC others(338): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0161 | 1 | 203 | 0.0049 | 345 | c.-12 others(364): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1156927 | C | CAGGACCC others(338): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 203 | 0.0049 | 345 | c.-12 others(364): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SCAI_chr9_124937608_125148528 | 125015426 | G | GAAAAAAT others(338): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0085 | a0002c0002t0085g0229 | 1 | 306 | 0.0033 | 345 | c.861 others(362): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78430203 | T | TTATAAAT others(338): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 332 | 0.0030 | 345 | c.632 others(362): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SCARB1_chr12_124771856_124868864 | 124816238 | T | TTGTCCAC others(338): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0001a0002c0006t0001 | a0001c0002t0001g0101a0002c0006t0001g0002 | 2 | 356 | 0.0056 | 345 | c.285 others(362): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
SCNN1A_chr12_6341847_6380563 | 6369294 | T | TCACCTCC others(338): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 454 | 0.0022 | 345 | c.416 others(362): Show |
SCNN1A | ENSG00000111319.13 | transcript | ENST00000228916.7 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1284179 | G | GGGTGAGG others(338): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 | 1 | 290 | 0.0035 | 345 | c.464 others(358): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(338): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 324 | 0.0031 | 345 | c.115 others(362): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SEM1_chr7_96683762_96714846 | 96711757 | A | AAGGAACT others(338): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 354 | 0.0028 | 345 | c.-19 others(356): Show |
SEM1 | ENSG00000127922.10 | transcript | ENST00000248566.4 | protein_coding | 1912 | chr7 | TogoVar | ||||||
SEMA3C_chr7_80737538_80924051 | 80863884 | T | TATGTATG others(338): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03209.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0001 | a0001c0002t0001g0224a0001c0006t0001g0172 | 2 | 244 | 0.0082 | 345 | c.104 others(364): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77485004 | G | GGGTGATG others(338): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 150 | 0.0067 | 345 | c.914 others(362): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEPTIN9_chr17_77276499_77505593 | 77485015 | G | GCGATTGT others(338): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 150 | 0.0067 | 345 | c.914 others(362): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77485004 | G | GGGTGATG others(338): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 158 | 0.0063 | 345 | c.860 others(362): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SETD6_chr16_58510517_58528842 | 58517773 | G | GCCGAAAA others(338): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0038 | 1 | 426 | 0.0024 | 345 | c.793 others(360): Show |
SETD6 | ENSG00000103037.12 | transcript | ENST00000219315.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SETDB2_chr13_49439274_49500003 | 49468614 | T | TGTTACCC others(338): Show |
intron_variant | MODIFIER | HG02818.hp1 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0281a0001c0002t0012g0282 | 2 | 406 | 0.0049 | 345 | c.305 others(360): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SH2B3_chr12_111400923_111456623 | 111404179 | T | TGAAACAT others(338): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0022 | 1 | 326 | 0.0031 | 345 | c.-21 others(356): Show |
SH2B3 | ENSG00000111252.11 | transcript | ENST00000341259.7 | protein_coding | 1743 | chr12 | TogoVar | ||||||
SHLD2_chr10_87090206_87196465 | 87126081 | T | TTGTTGTT others(338): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0313 | 1 | 340 | 0.0029 | 345 | c.-5- others(362): Show |
SHLD2 | ENSG00000122376.12 | transcript | ENST00000298786.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SIK3_chr11_116838402_117103428 | 116975247 | A | AAAATTCA others(338): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0026 | 1 | 366 | 0.0027 | 345 | c.274 others(364): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2281343 | T | TGCCCGAG others(338): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0004a0001c0001t0007g0004 | 2 | 330 | 0.0061 | 345 | c.970 others(364): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC17A5_chr6_73588379_73658992 | 73632008 | T | TAAGAATG others(338): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0009 | 1 | 324 | 0.0031 | 345 | c.819 others(362): Show |
SLC17A5 | ENSG00000119899.13 | transcript | ENST00000355773.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
SLC1A1_chr9_4485468_4592469 | 4530731 | T | TTTTTTTT others(338): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 384 | 0.0026 | 345 | c.92- others(362): Show |
SLC1A1 | ENSG00000106688.12 | transcript | ENST00000262352.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGG others(338): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02735.hp2 NA18963.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0076a0001c0001t0001g0184a0001c0001t0003g0009others(1): Show | 4 | 222 | 0.0180 | 345 | c.914 others(364): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | ||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGG others(338): Show |
intron_variant | MODIFIER | HG03688.hp2 HG04199.hp1 NA18952.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0045 | a0001c0001t0001g0176a0001c0002t0002g0116a0001c0002t0045g0161 | 3 | 222 | 0.0135 | 345 | c.914 others(364): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | ||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGG others(338): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0117 | 1 | 222 | 0.0045 | 345 | c.914 others(364): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | ||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGG others(338): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 222 | 0.0045 | 345 | c.914 others(364): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | ||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGG others(338): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0171 | 1 | 222 | 0.0045 | 345 | c.914 others(364): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | ||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGG others(338): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 222 | 0.0045 | 345 | c.914 others(364): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | ||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGG others(338): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 222 | 0.0045 | 345 | c.914 others(364): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | ||||||
SLC22A3_chr6_160343378_160457577 | 160456837 | T | TGGCGGTG others(338): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 NA19077.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0015a0001c0003t0001g0133 | 2 | 318 | 0.0063 | 345 | c.*57 others(356): Show |
SLC22A3 | ENSG00000146477.6 | transcript | ENST00000275300.3 | protein_coding | 4261 | chr6 | TogoVar |