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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(950): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 76 | 0.0132 | 957 | c.955 others(974): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(950): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0287 | 1 | 251 | 0.0040 | 957 | c.955 others(974): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045830 | T | TCAAAACC others(950): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0254 | 1 | 276 | 0.0036 | 957 | c.109 others(972): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAG others(950): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 219 | 0.0046 | 957 | c.327 others(974): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585344 | G | GAGGTGTT others(950): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0029 | 1 | 351 | 0.0028 | 957 | c.-22 others(974): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585360 | G | GGAGGGTA others(950): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 344 | 0.0029 | 957 | c.-22 others(974): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585380 | T | TGAGGGAA others(950): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0258 | 1 | 333 | 0.0030 | 957 | c.-22 others(974): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(950): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0239 | 1 | 194 | 0.0052 | 957 | c.300 others(974): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12775003 | A | ATGTGAGA others(950): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0107 | a0001c0002t0107g0117 | 1 | 208 | 0.0048 | 957 | c.565 others(974): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 421036 | C | CTCCATTA others(950): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0140 | 1 | 367 | 0.0027 | 957 | c.413 others(974): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(950): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0030 | 1 | 6 | 0.1667 | 957 | c.380 others(974): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(950): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 353 | 0.0028 | 957 | c.51+ others(972): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522651 | G | GCCCAGCC others(950): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 a0001c0001t0003g0080 |
2 | 333 | 0.0060 | 957 | c.236 others(976): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(950): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0004 | a0004c0004 | a0004c0004t0008 | a0004c0004t0008g0305 | 1 | 125 | 0.0080 | 957 | c.236 others(976): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(950): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03516.hp1 NA20129.hp2 |
a0001 | a0001c0005 | a0001c0005t0004a0001c0005t0015 | a0001c0005t0004g0022 a0001c0005t0015g0339 a0001c0005t0015g0340 |
3 | 127 | 0.0236 | 957 | c.236 others(976): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(950): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02165.hp1 NA18612.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0006 a0001c0001t0003g0005 a0001c0001t0003g0039 others(7): Show |
12 | 136 | 0.0882 | 957 | c.236 others(976): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(950): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 | 1 | 125 | 0.0080 | 957 | c.236 others(976): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(950): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 125 | 0.0080 | 957 | c.236 others(976): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(950): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 125 | 0.0080 | 957 | c.236 others(976): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(950): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0094 | 1 | 125 | 0.0080 | 957 | c.236 others(976): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(950): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0086 | 1 | 125 | 0.0080 | 957 | c.236 others(976): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(950): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02080.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 a0001c0001t0003g0084 a0001c0001t0003g0092 |
3 | 127 | 0.0236 | 957 | c.236 others(976): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(950): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0020 | a0020c0023 | a0020c0023t0003 | a0020c0023t0003g0059 | 1 | 125 | 0.0080 | 957 | c.236 others(976): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522761 | A | ACCCAGCC others(950): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075 | 1 | 260 | 0.0038 | 957 | c.236 others(976): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522805 | A | ACCCAGCC others(950): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0038 | 1 | 348 | 0.0029 | 957 | c.236 others(976): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619451 | C | CTCCATGC others(950): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 248 | 0.0040 | 957 | c.-10 others(976): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(950): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02647.hp1 HG02896.hp1 |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0174 a0001c0005t0007g0175 a0001c0005t0007g0176 |
3 | 90 | 0.0333 | 957 | c.*23 others(968): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(950): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0020 | 1 | 96 | 0.0104 | 957 | c.119 others(976): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 59867163 | T | TAATCAGC others(950): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0035 a0001c0001t0002g0021 |
2 | 16 | 0.1250 | 957 | c.348 others(976): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 8/9 | chr3 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 59867163 | T | TAATCAGC others(950): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02723.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0003g0016 others(1): Show |
4 | 18 | 0.2222 | 957 | c.348 others(976): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 8/9 | chr3 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591754 | A | ATGATGGT others(950): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 394 | 0.0025 | 957 | c.*50 others(968): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4047 | chr5 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(950): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 132 | 0.0076 | 957 | c.94- others(970): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(950): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 132 | 0.0076 | 957 | c.94- others(970): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(950): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 132 | 0.0076 | 957 | c.94- others(970): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399220 | C | CCACCACC others(950): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0278 | 1 | 288 | 0.0035 | 957 | c.-25 others(974): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(950): Show |
upstream_gene_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0031 | 1 | 204 | 0.0049 | 957 | c.-36 others(968): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163282 | A | ACAGAACC others(950): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0021 | a0021c0026 | a0021c0026t0003 | a0021c0026t0003g0167 | 1 | 268 | 0.0037 | 957 | c.258 others(974): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(950): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG02647.hp2 HG02896.hp1 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0009 | 3 | 130 | 0.0231 | 957 | c.-43 others(968): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(950): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0146 | 1 | 124 | 0.0081 | 957 | c.*65 others(968): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(950): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0177 | 1 | 8 | 0.1250 | 957 | c.115 others(974): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(950): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0049 | 1 | 3 | 0.3333 | 957 | c.-12 others(976): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537435 | G | GGGCCAGC others(950): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02886.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113 a0001c0002t0001g0225 |
2 | 216 | 0.0093 | 957 | c.241 others(976): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537435 | G | GGGCCAGC others(950): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03516.hp1 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0090 a0001c0008t0001g0212 |
2 | 216 | 0.0093 | 957 | c.241 others(976): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537435 | G | GGGCCAGC others(950): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0218 | 1 | 215 | 0.0047 | 957 | c.241 others(976): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397652 | C | CGGGGTGG others(950): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 342 | 0.0029 | 957 | c.91+ others(970): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64097040 | C | CCGTCACC others(950): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0010 a0001c0001t0009g0011 |
2 | 17 | 0.1176 | 957 | c.234 others(972): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398691 | G | GTCACCTC others(950): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 157 | 0.0064 | 957 | c.106 others(974): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPP2R3B_chrX_328933_391907 | 363697 | A | ACAGTGCA others(950): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0006 | a0006c0005 | a0006c0005t0003 | a0006c0005t0003g0012 | 1 | 24 | 0.0417 | 957 | c.325 others(974): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492455 | T | TCCCCGGG others(950): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0154 | 1 | 269 | 0.0037 | 957 | c.126 others(976): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492460 | G | GGGAGACC others(950): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0076 | 1 | 167 | 0.0060 | 957 | c.126 others(976): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |