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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RIMBP2_chr12_130391133_130721299 | 130392616 | G | GTGTCCGT others(2152): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 HG01261.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0103 a0001c0006t0001g0042 |
2 | 154 | 0.0130 | 2159 | c.*47 others(2170): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3516 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130392616 | G | GTGTCCGT others(2152): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG01070.hp1 HG01071.hp2 others(11): Show |
a0001a0002a0018 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0028 others(11): Show |
14 | 166 | 0.0843 | 2159 | c.*47 others(2170): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3516 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130392616 | G | GTGTCCGT others(2152): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 |
a0001a0002 | a0001c0005a0002c0023 | a0001c0005t0001a0002c0023t0001 | a0001c0005t0001g0032 a0002c0023t0001g0016 |
2 | 154 | 0.0130 | 2159 | c.*47 others(2170): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3516 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130392616 | G | GTGTCCGT others(2152): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0016 | a0016c0051 | a0016c0051t0003 | a0016c0051t0003g0093 | 1 | 153 | 0.0065 | 2159 | c.*47 others(2170): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3516 | chr12 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2153): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03195.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0009a0001c0003t0023others(1): Show | a0001c0001t0005g0285 a0001c0001t0009g0003 a0001c0003t0023g0005 others(2): Show |
5 | 44 | 0.1136 | 2160 | c.179 others(2181): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(2153): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 218 | 0.0046 | 2160 | c.666 others(2175): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178525019 | C | CGGCTAAG others(2153): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0142 | 1 | 133 | 0.0075 | 2160 | c.361 others(2179): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933883 | A | AGGAGAGG others(2153): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0034 | 1 | 163 | 0.0061 | 2160 | c.198 others(2175): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2153): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 7 | 0.1429 | 2160 | c.*16 others(2171): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2153): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG03041.hp1 NA18612.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0278 a0001c0001t0001g0285 others(5): Show |
9 | 15 | 0.6000 | 2160 | c.*16 others(2171): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2153): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0041 | 1 | 7 | 0.1429 | 2160 | c.*16 others(2171): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2153): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0228 | 1 | 7 | 0.1429 | 2160 | c.*16 others(2171): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2153): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 7 | 0.1429 | 2160 | c.*22 others(2171): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2153): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG01081.hp1 HG03041.hp2 others(8): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0023 others(4): Show |
11 | 17 | 0.6471 | 2160 | c.*22 others(2171): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2153): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 7 | 0.1429 | 2160 | c.*22 others(2171): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2153): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 7 | 0.1429 | 2160 | c.*22 others(2171): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
IFT25_chr1_53916561_53950699 | 53935450 | T | TGTGTGGG others(2153): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 276 | 0.0036 | 2160 | c.98+ others(2175): Show |
IFT25 | ENSG00000081870.12 | transcript | ENST00000194214.10 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
IFT25_chr1_53916561_53950699 | 53935450 | T | TGTGTGGG others(2153): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 2 | 277 | 0.0072 | 2160 | c.98+ others(2175): Show |
IFT25 | ENSG00000081870.12 | transcript | ENST00000194214.10 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2153): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0074 | a0074c0123 | a0074c0123t0001 | a0074c0123t0001g0082 | 1 | 8 | 0.1250 | 2160 | c.723 others(2177): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877396 | G | GGGAGGTT others(2153): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0006 | a0006c0011 | a0006c0011t0002 | a0006c0011t0002g0034 | 1 | 145 | 0.0069 | 2160 | c.224 others(2179): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195784498 | A | ACTGAGGA others(2153): Show |
conservative_inframe_insertion | MODERATE | HG03688.hp1 | a0095 | a0095c0151 | a0095c0151t0011 | a0095c0151t0011g0205 | 1 | 123 | 0.0081 | 2160 | c.708 others(2169): Show |
p.Ser others(2175): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7193/16756 | 7081/16239 | 2361/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787496 | G | GAAGAGGG others(2153): Show |
conservative_inframe_insertion | MODERATE | HG01192.hp2 HG01346.hp2 |
a0038a0043 | a0038c0161a0043c0103 | a0038c0161t0015a0043c0103t0004 | a0038c0161t0015g0234 a0043c0103t0004g0238 |
2 | 244 | 0.0082 | 2160 | c.408 others(2169): Show |
p.Leu others(2175): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4195/16756 | 4083/16239 | 1361/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2153): Show |
conservative_inframe_insertion | MODERATE | NA18983.hp1 | a0024 | a0024c0065 | a0024c0065t0001 | a0024c0065t0001g0035 | 1 | 118 | 0.0085 | 2160 | c.390 others(2169): Show |
p.Thr others(2175): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2153): Show |
conservative_inframe_insertion | MODERATE | NA18950.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0046 | 1 | 118 | 0.0085 | 2160 | c.390 others(2169): Show |
p.Thr others(2175): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2153): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 212 | 0.0047 | 2160 | c.-35 others(2171): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | |||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2153): Show |
upstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 212 | 0.0047 | 2160 | c.-35 others(2171): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | |||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2153): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 213 | 0.0094 | 2160 | c.-35 others(2171): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | |||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2153): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(6): Show |
77 | 288 | 0.2674 | 2160 | c.-35 others(2171): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | |||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2153): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 HG02280.hp1 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 |
8 | 219 | 0.0365 | 2160 | c.-35 others(2171): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | |||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2153): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 212 | 0.0047 | 2160 | c.-35 others(2171): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | |||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2153): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 212 | 0.0047 | 2160 | c.-35 others(2171): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | |||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2153): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 212 | 0.0047 | 2160 | c.-35 others(2171): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | |||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2153): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 212 | 0.0047 | 2160 | c.-35 others(2171): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | |||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2153): Show |
upstream_gene_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 212 | 0.0047 | 2160 | c.-35 others(2171): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | |||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2153): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 212 | 0.0047 | 2160 | c.-35 others(2171): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | |||||||
NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2153): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0133 | 1 | 218 | 0.0046 | 2160 | c.100 others(2175): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2153): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0069 | 1 | 218 | 0.0046 | 2160 | c.100 others(2175): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2153): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03927.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0051 a0003c0003t0002g0070 |
2 | 219 | 0.0091 | 2160 | c.100 others(2175): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2153): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(67): Show |
a0003a0006a0007others(5): Show | a0003c0003a0003c0042a0006c0007others(6): Show | a0003c0003t0002a0003c0042t0002a0006c0007t0001others(7): Show | a0003c0003t0002g0002 a0003c0003t0002g0003 a0003c0003t0002g0007 others(46): Show |
70 | 287 | 0.2439 | 2160 | c.100 others(2175): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2153): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02280.hp1 HG02896.hp1 others(8): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0011a0004c0006others(3): Show | a0001c0001t0001a0001c0011t0001a0004c0006t0001others(3): Show | a0001c0001t0001g0128 a0001c0001t0001g0211 a0001c0001t0001g0212 others(8): Show |
11 | 228 | 0.0482 | 2160 | c.100 others(2175): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2153): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0122 | 1 | 218 | 0.0046 | 2160 | c.100 others(2175): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2153): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0120 | 1 | 218 | 0.0046 | 2160 | c.100 others(2175): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2153): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 218 | 0.0046 | 2160 | c.100 others(2175): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2153): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0308 | 1 | 218 | 0.0046 | 2160 | c.100 others(2175): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811306 | T | TTCCCTTC others(2153): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0098 | 1 | 98 | 0.0102 | 2160 | c.773 others(2175): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2153): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0193 | 1 | 8 | 0.1250 | 2160 | c.-56 others(2179): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2153): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0269 | 1 | 8 | 0.1250 | 2160 | c.-56 others(2179): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2153): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 | 1 | 8 | 0.1250 | 2160 | c.-56 others(2179): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2153): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0105 a0001c0001t0007g0109 |
2 | 9 | 0.2222 | 2160 | c.-56 others(2179): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2153): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0201 | 1 | 8 | 0.1250 | 2160 | c.-56 others(2179): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |