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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MMD2_chr7_4900998_4964187 | 4960054 | G | GTGGGAAG others(800): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01168.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0140 a0001c0002t0002g0132 |
2 | 165 | 0.0121 | 807 | c.-10 others(818): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 868 | chr7 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(800): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 8 | 0.1250 | 807 | c.250 others(822): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(800): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 8 | 0.1250 | 807 | c.250 others(822): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(800): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0154 | 1 | 8 | 0.1250 | 807 | c.250 others(822): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(800): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0075 | 1 | 43 | 0.0233 | 807 | c.575 others(828): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 398199 | A | ATCACCTC others(800): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0147 | 1 | 205 | 0.0049 | 807 | c.106 others(824): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133829 | C | CTTCCTCC others(800): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 73 | 0.0137 | 807 | c.*23 others(818): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(800): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0030 | 1 | 3 | 0.3333 | 807 | c.159 others(824): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099793 | G | GCAGCCCC others(800): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 57 | 0.0175 | 807 | c.56- others(824): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(800): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 a0001c0001t0004g0045 |
3 | 29 | 0.1034 | 807 | c.-75 others(826): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
SART1_chr11_65956734_65985137 | 65971177 | A | AGCTGCTG others(800): Show |
intron_variant | MODIFIER | HG02293.hp1 HG03927.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0219 a0001c0002t0003g0245 |
2 | 106 | 0.0189 | 807 | c.157 others(826): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | chr11 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGCAGG others(800): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0009 | 1 | 2 | 0.5000 | 807 | c.-12 others(826): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9792159 | T | TAGAATAG others(800): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0060 | 1 | 193 | 0.0052 | 807 | c.165 others(824): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(800): Show |
intron_variant | MODIFIER | HG01255.hp2 NA20805.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0003 | a0001c0001t0001g0072 a0002c0005t0003g0118 |
2 | 3 | 0.6667 | 807 | c.227 others(826): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(800): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG02109.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007a0001c0032 | a0001c0001t0001a0001c0007t0001a0001c0032t0001 | a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0007t0001g0040 others(1): Show |
4 | 5 | 0.8000 | 807 | c.227 others(826): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
STAM_chr10_17639151_17721824 | 17670782 | T | TAAGAAAT others(800): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0381 | 1 | 393 | 0.0025 | 807 | c.125 others(826): Show |
STAM | ENSG00000136738.15 | transcript | ENST00000377524.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
STAM_chr10_17639151_17721824 | 17670782 | T | TAAGAAAT others(800): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0380 | 1 | 393 | 0.0025 | 807 | c.125 others(826): Show |
STAM | ENSG00000136738.15 | transcript | ENST00000377524.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
STAM_chr10_17639151_17721824 | 17670782 | T | TAAGAAAT others(800): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG01109.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0041 others(12): Show |
16 | 408 | 0.0392 | 807 | c.125 others(826): Show |
STAM | ENSG00000136738.15 | transcript | ENST00000377524.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870237 | C | CACCCTAC others(800): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 320 | 0.0031 | 807 | c.*35 others(826): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870237 | C | CACCCTAC others(800): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0286 | 1 | 320 | 0.0031 | 807 | c.*35 others(826): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870237 | C | CACCCTAC others(800): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01981.hp2 HG02155.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0001g0061 a0001c0001t0001g0062 others(3): Show |
6 | 325 | 0.0185 | 807 | c.*35 others(826): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7679098 | C | CATATATT others(800): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01928.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0050 | a0001c0001t0016g0125 a0001c0001t0050g0136 |
2 | 25 | 0.0800 | 807 | c.82+ others(822): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(801): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0000 a0001c0001t0012g0000 |
2 | 11 | 0.1818 | 808 | c.*10 others(821): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144531192 | G | GAGCAGCA others(801): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0095 | 1 | 232 | 0.0043 | 808 | c.298 others(825): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144531192 | G | GAGCAGCA others(801): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0023 | 1 | 232 | 0.0043 | 808 | c.298 others(825): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687393 | C | CGAGCACT others(801): Show |
upstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0038 | 1 | 114 | 0.0088 | 808 | c.-17 others(819): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1548 | chr8 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79336167 | G | GTGCCCTC others(801): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 232 | 0.0043 | 808 | c.202 others(825): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C1QTNF8_chr16_1083226_1101244 | 1093202 | A | AGCACACA others(801): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0038 | 1 | 336 | 0.0030 | 808 | c.*4+ others(821): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/4 | chr16 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078529 | G | GAGGGGTG others(801): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0174 | 1 | 322 | 0.0031 | 808 | c.*43 others(819): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3293 | chr1 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531192 | G | GAGCAGCA others(801): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 375 | 0.0027 | 808 | c.-22 others(819): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2082 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531192 | G | GAGCAGCA others(801): Show |
upstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 375 | 0.0027 | 808 | c.-22 others(819): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2082 | chr8 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(801): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0006 | a0006c0003 | a0006c0003t0009 | a0006c0003t0009g0167 | 1 | 194 | 0.0052 | 808 | c.300 others(825): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(801): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0027 | a0027c0038 | a0027c0038t0001 | a0027c0038t0001g0004 | 1 | 350 | 0.0029 | 808 | c.666 others(823): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803215 | G | GGGGCCCC others(801): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 332 | 0.0030 | 808 | c.666 others(823): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803215 | G | GGGGGCCC others(801): Show |
intron_variant | MODIFIER | NA19000.hp2 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 333 | 0.0060 | 808 | c.666 others(823): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 419606 | A | AAACACAC others(801): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0328 | 1 | 423 | 0.0024 | 808 | c.413 others(823): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505627 | C | CCCCCCCC others(801): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 249 | 0.0040 | 808 | c.165 others(825): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505627 | C | CCCCCCCC others(801): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 249 | 0.0040 | 808 | c.165 others(825): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505627 | C | CCCCCCCC others(801): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0287 | 1 | 249 | 0.0040 | 808 | c.165 others(825): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505627 | C | CCCCCCCC others(801): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 249 | 0.0040 | 808 | c.165 others(825): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505627 | C | CCCCCCCC others(801): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 249 | 0.0040 | 808 | c.165 others(825): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(801): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0305 | 1 | 38 | 0.0263 | 808 | c.248 others(825): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(801): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0261 | 1 | 38 | 0.0263 | 808 | c.248 others(825): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58786706 | T | TAAGATAT others(801): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG02155.hp1 others(4): Show |
a0001a0005 | a0001c0002a0005c0011 | a0001c0002t0002a0001c0002t0004a0005c0011t0002 | a0001c0002t0002g0014 a0001c0002t0002g0020 a0001c0002t0002g0029 others(4): Show |
7 | 156 | 0.0449 | 808 | c.223 others(829): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(801): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0107 | a0001c0002t0107g0235 | 1 | 2 | 0.5000 | 808 | c.162 others(829): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1298686 | T | TCCTACCC others(801): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 54 | 0.0185 | 808 | c.811 others(825): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(801): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0039 | a0001c0039t0064 | a0001c0039t0064g0080 | 1 | 2 | 0.5000 | 808 | c.415 others(829): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(801): Show |
intron_variant | MODIFIER | NA19030.hp2 NA19043.hp1 |
a0001a0038 | a0001c0093a0038c0104 | a0001c0093t0009a0038c0104t0069 | a0001c0093t0009g0007 a0038c0104t0069g0058 |
2 | 3 | 0.6667 | 808 | c.415 others(829): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(801): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0154 | 1 | 97 | 0.0103 | 808 | c.923 others(827): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251277 | C | CCAAATCC others(801): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 68 | 0.0147 | 808 | c.207 others(827): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |