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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DPEP1_chr16_89608642_89643433 | 89634604 | C | CCCTTTCC others(596): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01123.hp1 HG02735.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0066a0001c0001t0001g0129others(1): Show | 4 | 250 | 0.0160 | 603 | c.105 others(620): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928008 | G | GTGATGGT others(596): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0163 | 1 | 288 | 0.0035 | 603 | c.190 others(622): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ENTREP2_chr15_29115252_29575979 | 29131600 | T | TCACACAC others(596): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0008 | a0001c0008t0036 | a0001c0008t0036g0045 | 1 | 125 | 0.0080 | 603 | c.928 others(620): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 7/10 | chr15 | TogoVar | ||||||
FLT3_chr13_27998274_28105576 | 27998891 | T | TATTTATA others(596): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0007 | a0007c0015 | a0007c0015t0002 | a0007c0015t0002g0171 | 1 | 292 | 0.0034 | 603 | c.*51 others(614): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4382 | chr13 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218250 | A | ACCCACCA others(596): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 106 | 0.0094 | 603 | c.*27 others(614): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1081 | chr8 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176592340 | T | TGATGGTT others(596): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 397 | 0.0025 | 603 | c.*44 others(614): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 3461 | chr5 | TogoVar | ||||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(596): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0126 | 1 | 282 | 0.0036 | 603 | c.684 others(616): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(596): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0009 | a0001c0009t0067 | a0001c0009t0067g0145 | 1 | 282 | 0.0036 | 603 | c.684 others(616): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(596): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG02258.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0034a0001c0001t0081a0001c0001t0082others(1): Show | a0001c0001t0034g0036a0001c0001t0081g0031a0001c0001t0082g0089others(1): Show | 4 | 282 | 0.0142 | 603 | c.684 others(616): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(596): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(127): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0014a0001c0001t0001g0037a0001c0001t0001g0040others(127): Show | 130 | 282 | 0.4610 | 603 | c.684 others(616): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(596): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 282 | 0.0036 | 603 | c.684 others(616): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(596): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0055 | 1 | 282 | 0.0036 | 603 | c.684 others(616): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399520 | C | CCACCACC others(596): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0251 | 1 | 314 | 0.0032 | 603 | c.-25 others(620): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33323151 | T | TATATACG others(596): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0214 | 1 | 323 | 0.0031 | 603 | c.-19 others(614): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1818 | chr21 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(596): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0049 | 1 | 282 | 0.0036 | 603 | c.623 others(620): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(596): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0239 | 1 | 282 | 0.0036 | 603 | c.623 others(620): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79795224 | T | TGAGAGAC others(596): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0297 | 1 | 312 | 0.0032 | 603 | c.-29 others(614): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2713 | chr18 | TogoVar | ||||||
KIF17_chr1_20659014_20723007 | 20712845 | T | TTATCTAT others(596): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0387 | 1 | 414 | 0.0024 | 603 | c.480 others(618): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 3/14 | chr1 | TogoVar | ||||||
KIF1A_chr2_240708767_240825219 | 240786702 | G | GCATCAGG others(596): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01943.hp1 HG02055.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0008others(4): Show | a0001c0001t0001g0107a0001c0003t0003g0112a0001c0003t0008g0103others(4): Show | 7 | 330 | 0.0212 | 603 | c.430 others(618): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859649 | C | CAGTGGTG others(596): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 294 | 0.0034 | 603 | c.153 others(622): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 903594 | T | TGGTGACC others(596): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0216 | 1 | 294 | 0.0034 | 603 | c.663 others(620): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876764 | T | TAGGGAGC others(596): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0206 | 1 | 274 | 0.0037 | 603 | c.224 others(622): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876811 | G | GGGAGGTT others(596): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 274 | 0.0037 | 603 | c.224 others(622): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876845 | T | TATGGAGG others(596): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0009 | a0009c0014 | a0009c0014t0002 | a0009c0014t0002g0123a0009c0014t0002g0124 | 2 | 274 | 0.0073 | 603 | c.224 others(622): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876926 | T | TAGGGAGG others(596): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0151 | 1 | 274 | 0.0037 | 603 | c.224 others(622): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877202 | G | GGTTAGGG others(596): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0212 | 1 | 274 | 0.0037 | 603 | c.224 others(622): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(596): Show |
intron_variant | MODIFIER | NA18952.hp1 NA18964.hp2 NA18994.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181a0001c0001t0003g0182a0001c0001t0003g0191others(1): Show | 4 | 272 | 0.0147 | 603 | c.250 others(618): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(596): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 272 | 0.0037 | 603 | c.250 others(618): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432640 | A | AGGGAGGA others(596): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0175 | 1 | 250 | 0.0040 | 603 | c.225 others(620): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(596): Show |
intron_variant | MODIFIER | NA19077.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0033a0001c0001t0005g0047 | 2 | 256 | 0.0078 | 603 | c.241 others(622): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(596): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0018 | 1 | 256 | 0.0039 | 603 | c.241 others(622): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(596): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG01123.hp2 others(16): Show |
a0001 | a0001c0001a0001c0011a0001c0019 | a0001c0001t0002a0001c0001t0005a0001c0011t0005others(1): Show | a0001c0001t0002g0017a0001c0001t0002g0025a0001c0001t0002g0026others(16): Show | 19 | 256 | 0.0742 | 603 | c.241 others(622): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAC others(596): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 362 | 0.0028 | 603 | c.-75 others(622): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(596): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03139.hp2 HG03579.hp1 others(1): Show |
a0001a0008a0026 | a0001c0025a0008c0030a0026c0070 | a0001c0025t0016a0008c0030t0014a0026c0070t0004 | a0001c0025t0016g0169a0008c0030t0014g0172a0008c0030t0014g0173others(1): Show | 4 | 324 | 0.0124 | 603 | c.140 others(620): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(596): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0007 | 1 | 324 | 0.0031 | 603 | c.140 others(620): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(596): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 244 | 0.0041 | 603 | c.342 others(622): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | ||||||
NXN_chr17_794310_984776 | 948876 | T | TCCCCCCG others(596): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 242 | 0.0041 | 603 | c.360 others(622): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
OR6J1_chr14_22625929_22649352 | 22637553 | G | GCCCGGCC others(596): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0328 | 1 | 362 | 0.0028 | 603 | c.-27 others(620): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 468269 | A | AGTCAGGG others(596): Show |
intron_variant | MODIFIER | HG01261.hp2 NA18947.hp2 NA18955.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0018 | a0001c0002t0009a0001c0002t0026a0002c0018t0009 | a0001c0002t0009g0254a0001c0002t0009g0274a0001c0002t0009g0275others(3): Show | 6 | 295 | 0.0203 | 603 | c.809 others(620): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 468269 | A | AGTCAGGG others(596): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 295 | 0.0034 | 603 | c.809 others(620): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 468269 | A | AGTCAGGG others(596): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 295 | 0.0034 | 603 | c.809 others(620): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 468269 | A | AGTCAGGG others(596): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0257a0001c0001t0011g0258 | 2 | 295 | 0.0068 | 603 | c.809 others(620): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GAGGGGAA others(596): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 67 | 0.0149 | 603 | c.159 others(620): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 254396 | G | GTTCCATC others(596): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0092 | 1 | 133 | 0.0075 | 603 | c.439 others(620): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 254613 | C | CGTGACTA others(596): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0076 | 1 | 133 | 0.0075 | 603 | c.439 others(620): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 254654 | C | CGTCTGTC others(596): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0054 | 1 | 133 | 0.0075 | 603 | c.439 others(620): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 256053 | C | CCGCACGG others(596): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0075 | 1 | 133 | 0.0075 | 603 | c.439 others(620): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 257206 | T | TCCTTTTC others(596): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 133 | 0.0075 | 603 | c.439 others(620): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 257226 | T | TGTGACTA others(596): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0105 | 1 | 133 | 0.0075 | 603 | c.439 others(620): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 257937 | C | CGTCTGTC others(596): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0113 | 1 | 133 | 0.0075 | 603 | c.439 others(622): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar |