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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MGAT5B_chr17_76863404_76955393 | 76925239 | T | TCCCCTCC others(909): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0170 | 1 | 275 | 0.0036 | 916 | c.115 others(933): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(909): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 | 1 | 8 | 0.1250 | 916 | c.250 others(931): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950683 | A | ACACACGT others(909): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0063 | 1 | 293 | 0.0034 | 916 | c.-27 others(927): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2556 | chr16 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950683 | A | ACACACGT others(909): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0024 | 1 | 293 | 0.0034 | 916 | c.-27 others(927): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2556 | chr16 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950727 | G | GCACATAC others(909): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 347 | 0.0029 | 916 | c.-26 others(927): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2512 | chr16 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(909): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0167 | 1 | 2 | 0.5000 | 916 | c.734 others(933): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(909): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0165 | 1 | 67 | 0.0149 | 916 | c.306 others(935): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(909): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0084 | 1 | 210 | 0.0048 | 916 | c.227 others(933): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(909): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0086 | 1 | 19 | 0.0526 | 916 | c.24+ others(933): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(909): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0105 | 1 | 19 | 0.0526 | 916 | c.24+ others(933): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(909): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0104 | 1 | 19 | 0.0526 | 916 | c.24+ others(933): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(909): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 120 | 0.0083 | 916 | c.120 others(935): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(909): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0045 | a0001c0045t0001 | a0001c0045t0001g0009 | 1 | 120 | 0.0083 | 916 | c.120 others(935): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(909): Show |
intron_variant | MODIFIER | HG01175.hp2 NA19067.hp1 |
a0001 | a0001c0019a0001c0105 | a0001c0019t0002a0001c0105t0001 | a0001c0019t0002g0218 a0001c0105t0001g0075 |
2 | 121 | 0.0165 | 916 | c.120 others(935): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1098513 | G | GCCCCCCT others(909): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0004 | a0004c0033 | a0004c0033t0004 | a0004c0033t0004g0072 | 1 | 101 | 0.0099 | 916 | c.125 others(933): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SLC31A1_chr9_113216544_113269492 | 113250305 | T | TAAGAAAA others(909): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02074.hp1 HG02129.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0023a0001c0001t0051others(1): Show | a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0289 others(5): Show |
10 | 384 | 0.0260 | 916 | c.-35 others(933): Show |
SLC31A1 | ENSG00000136868.11 | transcript | ENST00000374212.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC31A1_chr9_113216544_113269492 | 113250305 | T | TAAGAAAA others(909): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0328 | 1 | 375 | 0.0027 | 916 | c.-35 others(933): Show |
SLC31A1 | ENSG00000136868.11 | transcript | ENST00000374212.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197049 | T | TCATCCAT others(909): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0033 | 1 | 418 | 0.0024 | 916 | c.107 others(933): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197122 | C | CATCCATC others(909): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0289 | 1 | 395 | 0.0025 | 916 | c.107 others(933): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197122 | C | CATCTATC others(909): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0032 | 1 | 395 | 0.0025 | 916 | c.107 others(933): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(909): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0285 | 1 | 273 | 0.0037 | 916 | c.107 others(933): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(909): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01070.hp1 HG01071.hp2 others(2): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0004 a0002c0002t0001g0088 a0002c0003t0001g0358 others(1): Show |
5 | 277 | 0.0181 | 916 | c.107 others(933): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(909): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0263 | 1 | 273 | 0.0037 | 916 | c.107 others(933): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(909): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0026 | 1 | 273 | 0.0037 | 916 | c.107 others(933): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(909): Show |
intron_variant | MODIFIER | NA18986.hp1 NA19062.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0002c0003t0001 | a0001c0001t0005g0151 a0002c0003t0001g0327 |
2 | 274 | 0.0073 | 916 | c.107 others(933): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(909): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0027 | 1 | 273 | 0.0037 | 916 | c.107 others(933): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(909): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 201 | 0.0050 | 916 | c.107 others(933): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168659666 | C | CCGAGTGA others(909): Show |
intron_variant | MODIFIER | HG03516.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0005 | a0001c0001t0006g0160 a0001c0002t0005g0069 |
2 | 4 | 0.5000 | 916 | c.128 others(935): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 11/12 | chr6 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168659666 | C | CCGAGTGA others(909): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0005 | a0001c0001t0006g0128 a0001c0004t0005g0048 a0001c0004t0005g0049 others(1): Show |
4 | 6 | 0.6667 | 916 | c.128 others(935): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 11/12 | chr6 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747572 | C | CTGGGGTA others(909): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0178 | 1 | 256 | 0.0039 | 916 | c.189 others(931): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930831 | C | CGGGGTTA others(909): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 1 | 343 | 0.0029 | 916 | c.*47 others(927): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4538 | chr11 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204340 | T | TATGATGA others(909): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0140 | 1 | 162 | 0.0062 | 916 | c.41- others(933): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(909): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0060 | 1 | 8 | 0.1250 | 916 | c.657 others(931): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(909): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 83 | 0.0120 | 916 | c.392 others(933): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(909): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 a0001c0001t0002g0125 |
2 | 114 | 0.0175 | 916 | c.*53 others(927): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | |||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(909): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0133 | 1 | 21 | 0.0476 | 916 | c.127 others(933): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ZIC2_chr13_99976784_99991765 | 99980018 | C | CGGGGGGG others(909): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 442 | 0.0023 | 916 | c.-20 others(927): Show |
ZIC2 | ENSG00000043355.12 | transcript | ENST00000376335.8 | protein_coding | 1765 | chr13 | TogoVar | |||||||
ZNF85_chr19_20918251_20955697 | 20919187 | A | ATATACAA others(909): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0238 | 1 | 376 | 0.0027 | 916 | c.-42 others(927): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4063 | chr19 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687405 | A | ACCCCCGT others(910): Show |
upstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 211 | 0.0047 | 917 | c.-18 others(928): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1560 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGTGAGCA others(910): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 146 | 0.0068 | 917 | c.-18 others(928): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687476 | C | CCCCGTGA others(910): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 | 1 | 233 | 0.0043 | 917 | c.-18 others(928): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1631 | chr8 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44254776 | T | TACCATCA others(910): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 | 1 | 154 | 0.0065 | 917 | c.276 others(932): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44254776 | T | TACCATCA others(910): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020a0001c0001t0021 | a0001c0001t0002g0230 a0001c0001t0020g0229 a0001c0001t0021g0228 |
3 | 156 | 0.0192 | 917 | c.276 others(932): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44254776 | T | TACCATCA others(910): Show |
intron_variant | MODIFIER | HG02027.hp2 HG03927.hp1 NA18966.hp1 others(1): Show |
a0001a0002 | a0001c0004a0002c0009 | a0001c0004t0003a0001c0004t0004a0002c0009t0001 | a0001c0004t0003g0098 a0001c0004t0003g0162 a0001c0004t0004g0149 others(1): Show |
4 | 157 | 0.0255 | 917 | c.276 others(932): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44254776 | T | TACCATCA others(910): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02622.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0002c0005t0001 | a0001c0001t0001g0010 a0001c0001t0002g0103 a0001c0001t0002g0107 others(5): Show |
8 | 161 | 0.0497 | 917 | c.276 others(932): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | |||||||
CDCA2_chr8_25454233_25512911 | 25465572 | A | ATCAAACT others(910): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0209 |
2 | 316 | 0.0063 | 917 | c.388 others(932): Show |
CDCA2 | ENSG00000184661.14 | transcript | ENST00000330560.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(910): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0004 | 1 | 8 | 0.1250 | 917 | c.*69 others(928): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(910): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG03195.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0013 | a0002c0002t0001g0029 a0002c0002t0001g0120 a0002c0002t0001g0128 others(4): Show |
7 | 80 | 0.0875 | 917 | c.937 others(932): 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(910): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006 | a0002c0002t0001g0169 a0002c0002t0006g0033 |
2 | 75 | 0.0267 | 917 | c.937 others(932): 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(910): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03209.hp2 |
a0003a0007 | a0003c0003a0007c0005 | a0003c0003t0004a0007c0005t0023 | a0003c0003t0004g0160 a0007c0005t0023g0045 |
2 | 75 | 0.0267 | 917 | c.937 others(932): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |