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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(724): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0152 | 1 | 94 | 0.0106 | 731 | c.207 others(752): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835489 | G | GCCCCCAC others(724): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 382 | 0.0026 | 731 | c.*36 others(742): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3472 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835528 | A | AGCCCCCA others(724): Show |
downstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 313 | 0.0032 | 731 | c.*36 others(742): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3511 | chr19 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(724): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0103 | a0001c0001t0103g0162 | 1 | 50 | 0.0200 | 731 | c.92+ others(748): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182049 | A | ACACACAC others(724): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 316 | 0.0032 | 731 | c.193 others(748): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(724): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0178 | 1 | 205 | 0.0049 | 731 | c.411 others(748): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61331613 | C | CCTCAGAT others(724): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0066 | 1 | 65 | 0.0154 | 731 | c.169 others(750): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46366247 | G | GGGGCAGG others(724): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0022 | a0022c0058 | a0022c0058t0001 | a0022c0058t0001g0094 | 1 | 83 | 0.0120 | 731 | c.830 others(748): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(724): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0055 | 1 | 11 | 0.0909 | 731 | c.-26 others(740): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(724): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0061 | 1 | 11 | 0.0909 | 731 | c.-26 others(740): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(724): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0010 | 1 | 11 | 0.0909 | 731 | c.-26 others(740): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63361435 | G | GGGGGAGG others(724): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0094 | 1 | 165 | 0.0061 | 731 | c.-27 others(740): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 87 | chr20 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(724): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0143 | 1 | 85 | 0.0118 | 731 | c.827 others(746): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(724): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02723.hp2 HG03195.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0124 a0002c0003t0003g0125 a0002c0003t0003g0127 others(1): Show |
4 | 88 | 0.0455 | 731 | c.827 others(746): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(724): Show |
intron_variant | MODIFIER | HG02976.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0114 |
2 | 86 | 0.0233 | 731 | c.827 others(746): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(724): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02486.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0038 a0001c0002t0002g0061 a0001c0002t0002g0076 others(3): Show |
7 | 91 | 0.0769 | 731 | c.827 others(746): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 477345 | A | AGGGGAGG others(724): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0073 | 1 | 37 | 0.0270 | 731 | c.158 others(748): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 477345 | A | AGGGGGAG others(724): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0018 | a0001c0018t0003 | a0001c0018t0003g0007 | 1 | 37 | 0.0270 | 731 | c.158 others(748): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999085 | A | ATGTATAT others(724): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0015 | a0015c0037 | a0015c0037t0002 | a0015c0037t0002g0270 | 1 | 213 | 0.0047 | 731 | c.*49 others(742): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4188 | chr13 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GGGGGGGA others(724): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 215 | 0.0047 | 731 | c.157 others(746): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(724): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0207 | 1 | 4 | 0.2500 | 731 | c.126 others(748): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(724): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01258.hp2 HG02970.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 a0001c0002t0001g0127 a0001c0002t0001g0131 |
3 | 6 | 0.5000 | 731 | c.126 others(748): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(724): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 4 | 0.2500 | 731 | c.126 others(748): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(724): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG00673.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0096 a0001c0001t0002g0113 a0001c0001t0003g0010 others(17): Show |
20 | 23 | 0.8696 | 731 | c.126 others(748): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(724): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 4 | 0.2500 | 731 | c.126 others(748): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(724): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0133 | 1 | 4 | 0.2500 | 731 | c.126 others(748): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(724): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 4 | 0.2500 | 731 | c.126 others(748): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
GRINA_chr8_143985056_143998415 | 143988242 | T | TGGGTTCA others(724): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 HG02622.hp2 HG02630.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0004g0002 |
13 | 14 | 0.9286 | 731 | c.-19 others(742): Show |
GRINA | ENSG00000178719.17 | transcript | ENST00000395068.9 | protein_coding | 1813 | chr8 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925853 | T | TGGATTGG others(724): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0164 | 1 | 320 | 0.0031 | 731 | c.666 others(748): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322309 | A | ATATATGC others(724): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0033 | a0002c0002t0033g0188 | 1 | 305 | 0.0033 | 731 | c.-27 others(742): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2660 | chr21 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(724): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 4 | 0.2500 | 731 | c.-27 others(742): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(724): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0040 | a0001c0040t0002 | a0001c0040t0002g0076 | 1 | 8 | 0.1250 | 731 | c.507 others(750): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MAOB_chrX_43761610_43887450 | 43771629 | T | TTTACTTT others(724): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 231 | 0.0043 | 731 | c.123 others(750): Show |
MAOB | ENSG00000069535.14 | transcript | ENST00000378069.5 | protein_coding | 12/14 | chrX | TogoVar | |||||||
MED27_chr9_131855112_132084867 | 131964326 | G | GAGGTGAT others(724): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 109 | 0.0092 | 731 | c.480 others(750): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 3/7 | chr9 | TogoVar | |||||||
MED27_chr9_131855112_132084867 | 131964326 | G | GAGGTGAT others(724): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 109 | 0.0092 | 731 | c.480 others(750): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 3/7 | chr9 | TogoVar | |||||||
MED27_chr9_131855112_132084867 | 131964326 | G | GAGGTGAT others(724): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00609.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015 a0001c0001t0001g0088 a0001c0001t0001g0098 others(42): Show |
45 | 153 | 0.2941 | 731 | c.480 others(750): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 3/7 | chr9 | TogoVar | |||||||
MED27_chr9_131855112_132084867 | 131964326 | G | GAGGTGAT others(724): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 109 | 0.0092 | 731 | c.480 others(750): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 3/7 | chr9 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(724): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0016 | 1 | 4 | 0.2500 | 731 | c.114 others(750): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537435 | G | GGGCCAGC others(724): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0076 | 1 | 215 | 0.0047 | 731 | c.241 others(750): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(724): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0204 | 1 | 8 | 0.1250 | 731 | c.293 others(750): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(724): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 8 | 0.1250 | 731 | c.293 others(750): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NRCAM_chr7_108142649_108461436 | 108299110 | A | AAGAAAGA others(724): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0127 | 1 | 193 | 0.0052 | 731 | c.-10 others(752): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 3/32 | chr7 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841381 | T | TGCATCTC others(724): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 188 | 0.0053 | 731 | c.361 others(750): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841458 | C | CGCATCTC others(724): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 | 1 | 142 | 0.0070 | 731 | c.361 others(750): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841612 | A | AGCATCTC others(724): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0003 | 1 | 140 | 0.0071 | 731 | c.361 others(750): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143988242 | T | TGGGTTCA others(724): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 HG02622.hp2 HG02630.hp2 others(11): Show |
a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0008 a0005c0005t0003g0013 a0005c0005t0003g0186 others(6): Show |
14 | 16 | 0.8750 | 731 | c.-18 others(742): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 1783 | chr8 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45909792 | C | CCCCCCCG others(724): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 177 | 0.0056 | 731 | c.471 others(746): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109353960 | T | TGATATCT others(724): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0076 | 1 | 336 | 0.0030 | 731 | c.176 others(750): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(724): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0041 | a0041c0033 | a0041c0033t0048 | a0041c0033t0048g0162 | 1 | 24 | 0.0417 | 731 | c.147 others(748): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(724): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(97): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0007others(29): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(73): Show | a0001c0001t0002g0056 a0001c0001t0002g0141 a0001c0001t0003g0089 others(97): Show |
100 | 123 | 0.8130 | 731 | c.147 others(748): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |