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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(933): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0077 | 1 | 114 | 0.0088 | 940 | c.56- others(957): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATA others(933): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0267 | 1 | 284 | 0.0035 | 940 | c.126 others(957): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859094 | G | GGACGGGT others(933): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 294 | 0.0034 | 940 | c.153 others(959): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(933): Show |
upstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 940 | c.-42 others(951): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | ||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(933): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 HG03491.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 4 | 398 | 0.0101 | 940 | c.-42 others(951): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(933): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 318 | 0.0031 | 940 | c.-49 others(951): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(933): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0013 | a0001c0013t0010 | a0001c0013t0010g0102 | 1 | 278 | 0.0036 | 940 | c.115 others(957): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(933): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0045 | a0001c0045t0001 | a0001c0045t0001g0228 | 1 | 278 | 0.0036 | 940 | c.115 others(957): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(933): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 272 | 0.0037 | 940 | c.250 others(955): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(933): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 330 | 0.0030 | 940 | c.-5+ others(955): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(933): Show |
downstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 940 | c.*31 others(951): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413196 | T | TATATATG others(933): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 456 | 0.0022 | 940 | c.*31 others(951): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3002 | chr4 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(933): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03579.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0048a0001c0001t0002g0153a0001c0004t0002g0067 | 3 | 326 | 0.0092 | 940 | c.162 others(959): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(933): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02056.hp1 HG02071.hp1 others(2): Show |
a0001a0005a0037 | a0001c0001a0005c0003a0037c0080 | a0001c0001t0001a0005c0003t0001a0037c0080t0001 | a0001c0001t0001g0175a0001c0001t0001g0202a0001c0001t0001g0208others(2): Show | 5 | 308 | 0.0162 | 940 | c.371 others(957): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(933): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0025 | a0025c0056 | a0025c0056t0008 | a0025c0056t0008g0183 | 1 | 322 | 0.0031 | 940 | c.*48 others(951): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(933): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0004 | a0004c0058 | a0004c0058t0001 | a0004c0058t0001g0098 | 1 | 334 | 0.0030 | 940 | c.45- others(955): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(933): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02647.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0002g0004others(1): Show | 10 | 412 | 0.0243 | 940 | c.-48 others(951): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(933): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG03098.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001a0001c0002t0001g0020 | 2 | 412 | 0.0049 | 940 | c.-48 others(951): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197114 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0318 | 1 | 420 | 0.0024 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197150 | C | CATCTATC others(933): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0128 | 1 | 420 | 0.0024 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02273.hp1 |
a0002a0007 | a0002c0003a0007c0015 | a0002c0003t0002a0007c0015t0002 | a0002c0003t0002g0026a0007c0015t0002g0063 | 2 | 420 | 0.0048 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0085 | 1 | 420 | 0.0024 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0089 | 1 | 420 | 0.0024 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0133 | 1 | 420 | 0.0024 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0061 | 1 | 420 | 0.0024 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0103 | 1 | 420 | 0.0024 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0348 | 1 | 420 | 0.0024 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0129 | 1 | 420 | 0.0024 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0119 | 1 | 420 | 0.0024 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0071 | 1 | 420 | 0.0024 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0008 | a0008c0016 | a0008c0016t0002 | a0008c0016t0002g0113 | 1 | 420 | 0.0024 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0070 | 1 | 420 | 0.0024 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCTATC others(933): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0025 | a0001c0025t0021 | a0001c0025t0021g0024 | 1 | 420 | 0.0024 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCTATC others(933): Show |
intron_variant | MODIFIER | NA19003.hp1 NA19079.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0027 | a0002c0002t0001g0056a0002c0002t0027g0142 | 2 | 420 | 0.0048 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCTATC others(933): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0088 | 1 | 420 | 0.0024 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273068 | A | GCCATCCA others(933): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0373 | 1 | 392 | 0.0026 | 940 | c.228 others(957): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(933): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0263 | 1 | 314 | 0.0032 | 940 | c.189 others(957): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TRIM48_chr11_55257155_55276114 | 55273308 | T | TTATATAT others(933): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 272 | 0.0037 | 940 | c.*28 others(951): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2195 | chr11 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(933): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0230 | 1 | 238 | 0.0042 | 940 | c.392 others(957): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(933): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0041 | 1 | 326 | 0.0031 | 940 | c.483 others(955): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZNF407_chr18_74592870_75070671 | 74616905 | A | ACACCACA others(933): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02647.hp2 HG03579.hp1 |
a0002a0010a0011 | a0002c0004a0010c0021a0011c0020 | a0002c0004t0005a0010c0021t0008a0011c0020t0001 | a0002c0004t0005g0040a0010c0021t0008g0038a0011c0020t0001g0039 | 3 | 92 | 0.0326 | 940 | c.-53 others(959): Show |
ZNF407 | ENSG00000215421.10 | transcript | ENST00000299687.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(934): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02523.hp1 NA20300.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0001 | a0001c0001t0001g0064a0001c0003t0001g0036a0002c0004t0001g0147 | 3 | 248 | 0.0121 | 941 | c.387 others(960): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(934): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0269 | 1 | 418 | 0.0024 | 941 | c.*51 others(952): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(934): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 | 1 | 418 | 0.0024 | 941 | c.*51 others(952): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(934): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0106 | a0001c0002t0106g0228 | 1 | 270 | 0.0037 | 941 | c.162 others(962): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130615151 | G | GTTTCAAA others(934): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0140 | 1 | 264 | 0.0038 | 941 | c.481 others(960): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CPNE4_chr3_131528569_132040014 | 131978292 | T | TTTATATA others(934): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0067 | 1 | 94 | 0.0106 | 941 | c.-2+ others(958): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132242519 | C | CCCCTTCC others(934): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0021 | a0001c0021t0004 | a0001c0021t0004g0155 | 1 | 183 | 0.0055 | 941 | c.107 others(960): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(934): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 376 | 0.0027 | 941 | c.-79 others(950): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(934): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0197 | 1 | 278 | 0.0036 | 941 | c.115 others(958): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |