| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PDE4DIP_chr1_148839428_149038016 | 149023587 | C | CATATATG others(245): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0009 | a0009c0008 | a0009c0008t0007 | a0009c0008t0007g0015 | 1 | 24 | 0.0417 | 252 | c.628 others(269): Show |
PDE4DIP | ENSG00000178104.22 | transcript | ENST00000695795.1 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PDPN_chr1_13578832_13622957 | 13588980 | A | AGCGCTAC others(245): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01952.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0023 | a0001c0001t0003g0191a0001c0001t0003g0192a0001c0001t0006g0194others(2): Show | 5 | 446 | 0.0112 | 252 | c.67+ others(267): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PEX10_chr1_2398974_2417564 | 2401371 | T | TCCTCCCT others(245): Show |
downstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 358 | 0.0028 | 252 | c.*43 others(263): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2602 | chr1 | TogoVar | ||||||
| PHF11_chr13_49490953_49533976 | 49504526 | T | TGGCCGCC others(245): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 414 | 0.0024 | 252 | c.95- others(267): Show |
PHF11 | ENSG00000136147.18 | transcript | ENST00000378319.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PIGZ_chr3_196941356_196973833 | 196973810 | G | GCCCCGTC others(245): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG01106.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0017 | 2 | 424 | 0.0047 | 252 | c.-51 others(263): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 4978 | chr3 | TogoVar | ||||||
| PIWIL1_chr12_130332887_130377637 | 130338250 | T | TTGCGGGG others(245): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG02071.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0001t0007a0001c0002t0007others(5): Show | a0001c0001t0004g0039a0001c0001t0004g0261a0001c0001t0004g0262others(14): Show | 19 | 425 | 0.0447 | 252 | c.-13 others(267): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PIWIL1_chr12_130332887_130377637 | 130338382 | G | GGGCGAGG others(245): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02738.hp1 HG03017.hp1 others(11): Show |
a0002 | a0002c0003 | a0002c0003t0012a0002c0003t0015a0002c0003t0037others(3): Show | a0002c0003t0012g0308a0002c0003t0012g0312a0002c0003t0012g0313others(10): Show | 14 | 425 | 0.0329 | 252 | c.-13 others(267): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PIWIL1_chr12_130332887_130377637 | 130338426 | G | GCGAGGTC others(245): Show |
intron_variant | MODIFIER | HG02083.hp2 HG03654.hp2 HG03831.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0012a0002c0003t0015a0002c0003t0060 | a0002c0003t0012g0304a0002c0003t0012g0305a0002c0003t0015g0303others(1): Show | 4 | 425 | 0.0094 | 252 | c.-13 others(267): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PKHD1_chr6_51610299_52092613 | 51981304 | G | GCTCTACC others(245): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 134 | 0.0075 | 252 | c.575 others(273): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 401975 | C | CGCTCACC others(245): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0159 | 1 | 216 | 0.0046 | 252 | c.173 others(271): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | ||||||
| PLCL2_chr3_16879955_17095604 | 17063252 | C | CCCTCCCT others(245): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02129.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113a0001c0002t0001g0114 | 2 | 250 | 0.0080 | 252 | c.309 others(271): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PLEKHG4B_chr5_87168_194966 | 92369 | G | GGCGCGGG others(245): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0036 | a0036c0075 | a0036c0075t0061 | a0036c0075t0061g0178 | 1 | 210 | 0.0048 | 252 | c.45+ others(263): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PLEKHG4B_chr5_87168_194966 | 165533 | G | GCGGGGCT others(245): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02132.hp2 HG02273.hp1 others(3): Show |
a0001a0003a0023 | a0001c0001a0003c0004a0023c0055 | a0001c0001t0031a0001c0001t0102a0003c0004t0028others(3): Show | a0001c0001t0031g0111a0001c0001t0102g0057a0003c0004t0028g0058others(3): Show | 6 | 210 | 0.0286 | 252 | c.347 others(271): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PLEKHG4B_chr5_87168_194966 | 165634 | G | GCTCTGAC others(245): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02132.hp2 HG02273.hp1 others(3): Show |
a0001a0003a0023 | a0001c0001a0003c0004a0023c0055 | a0001c0001t0031a0001c0001t0102a0003c0004t0028others(3): Show | a0001c0001t0031g0111a0001c0001t0102g0057a0003c0004t0028g0058others(3): Show | 6 | 210 | 0.0286 | 252 | c.347 others(271): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PLEKHN1_chr1_961482_980865 | 977605 | C | CAACCCGG others(245): Show |
downstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0001 | 1 | 422 | 0.0024 | 252 | c.*30 others(263): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1741 | chr1 | TogoVar | ||||||
| PNPLA1_chr6_36265060_36318955 | 36275948 | T | TTTTCTTT others(245): Show |
intron_variant | MODIFIER | HG00099.hp1 NA19079.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0003a0003c0006t0001 | a0001c0001t0003g0378a0003c0006t0001g0364 | 2 | 386 | 0.0052 | 252 | c.205 others(269): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PPM1L_chr3_160751231_161083902 | 160944956 | C | CATATATT others(245): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001 | 1 | 206 | 0.0049 | 252 | c.400 others(271): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
| PRAM1_chr19_8485056_8507640 | 8499590 | G | GGCGGGGG others(245): Show |
conservative_inframe_insertion | MODERATE | NA18906.hp1 | a0060 | a0060c0073 | a0060c0073t0002 | a0060c0073t0002g0242 | 1 | 422 | 0.0024 | 252 | c.217 others(259): Show |
p.Pro others(263): Show |
PRAM1 | ENSG00000133246.12 | transcript | ENST00000423345.5 | protein_coding | 2/10 | 266/2195 | 217/2013 | 73/670 | chr19 | TogoVar | ||
| PRDM16_chr1_3064203_3443621 | 3379552 | A | ACACACCC others(245): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02723.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022a0001c0001t0023others(1): Show | a0001c0001t0001g0203a0001c0001t0022g0040a0001c0001t0023g0072others(1): Show | 4 | 210 | 0.0191 | 252 | c.439 others(269): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRDM9_chr5_23502609_23533093 | 23526806 | T | TACACACA others(245): Show |
conservative_inframe_insertion | MODERATE | HG02572.hp1 | a0045 | a0045c0049 | a0045c0049t0001 | a0045c0049t0001g0085 | 1 | 424 | 0.0024 | 252 | c.193 others(261): Show |
p.Ser others(265): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 11/11 | 2127/3193 | 1939/2685 | 647/894 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| PRDM9_chr5_23502609_23533093 | 23527046 | C | CTCACCAG others(245): Show |
disruptive_inframe_insertion | MODERATE | HG03041.hp2 | a0049 | a0049c0026 | a0049c0026t0001 | a0049c0026t0001g0150 | 1 | 424 | 0.0024 | 252 | c.196 others(261): Show |
p.Arg others(265): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 11/11 | 2158/3193 | 1970/2685 | 657/894 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| PRKCB_chr16_23830983_24225611 | 23981813 | T | TCCCCTTC others(245): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02976.hp2 HG03540.hp1 |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0070a0001c0003t0025a0001c0005t0013 | a0001c0002t0070g0045a0001c0003t0025g0016a0001c0005t0013g0032 | 3 | 148 | 0.0203 | 252 | c.206 others(269): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2106871 | C | CCCTCCGG others(245): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 286 | 0.0035 | 252 | c.335 others(271): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2123747 | C | CGGCTGTA others(245): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0142 | 1 | 286 | 0.0035 | 252 | c.335 others(271): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113162009 | T | TCCCCACA others(245): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 378 | 0.0027 | 252 | c.260 others(267): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113162201 | G | GTCCCCGT others(245): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 378 | 0.0027 | 252 | c.260 others(267): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113162350 | A | ACATCCTC others(245): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG03490.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0033 | 4 | 378 | 0.0106 | 252 | c.260 others(267): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113162432 | C | CCACATCC others(245): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 378 | 0.0027 | 252 | c.260 others(267): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113162470 | C | CTCCTCAC others(245): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0197 | 1 | 378 | 0.0027 | 252 | c.260 others(267): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113162476 | A | ACATCCTC others(245): Show |
intron_variant | MODIFIER | HG02717.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 2 | 378 | 0.0053 | 252 | c.260 others(267): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113162518 | A | CCATCCTC others(245): Show |
intron_variant | MODIFIER | HG02056.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075a0001c0001t0002g0174 | 2 | 378 | 0.0053 | 252 | c.260 others(267): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
| PROZ_chr13_113153648_113177386 | 113162554 | C | CTCCCCCC others(245): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 378 | 0.0027 | 252 | c.260 others(267): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113162597 | T | GCCCCACA others(245): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0185 | 1 | 378 | 0.0027 | 252 | c.260 others(267): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
| PRPF31_chr19_54110754_54136713 | 54133834 | T | TCCCTCTC others(245): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 227 | 0.0044 | 252 | c.*24 others(263): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2122 | chr19 | TogoVar | ||||||
| PRSS33_chr16_2778953_2792560 | 2787233 | C | CCCCTGTC others(245): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 386 | 0.0026 | 252 | c.-58 others(267): Show |
PRSS33 | ENSG00000103355.14 | transcript | ENST00000682474.1 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
| PRSS33_chr16_2778953_2792560 | 2787233 | C | CCCCTGTC others(245): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0093 | 1 | 386 | 0.0026 | 252 | c.-58 others(267): Show |
PRSS33 | ENSG00000103355.14 | transcript | ENST00000682474.1 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
| PTTG1IP_chr21_44844598_44878690 | 44863187 | G | GACACAGC others(245): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0026 | 1 | 444 | 0.0023 | 252 | c.169 others(269): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 2/5 | chr21 | TogoVar | ||||||
| RAB7B_chr1_205971740_206008395 | 205985746 | C | CCCCACCA others(245): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 330 | 0.0030 | 252 | c.397 others(265): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
| RAD21L1_chr20_1221044_1260876 | 1258465 | A | AGATCTTC others(245): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0086 | 1 | 364 | 0.0028 | 252 | c.*40 others(263): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 2590 | chr20 | TogoVar | ||||||
| RAD51C_chr17_58687602_58740611 | 58726417 | T | TATATGTA others(245): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01071.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0001t0001g0080others(6): Show | 10 | 330 | 0.0303 | 252 | c.965 others(269): Show |
RAD51C | ENSG00000108384.16 | transcript | ENST00000337432.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RAD51C_chr17_58687602_58740611 | 58726546 | G | GTATAGAT others(245): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095a0001c0001t0001g0110 | 2 | 330 | 0.0061 | 252 | c.965 others(269): Show |
RAD51C | ENSG00000108384.16 | transcript | ENST00000337432.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RBFOX1_chr16_6014024_7718340 | 7229816 | A | AAGGAAGG others(245): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0066 | 1 | 68 | 0.0147 | 252 | c.27+ others(271): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX3_chr17_79084345_79616051 | 79495482 | A | AGGAAGGT others(245): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0120a0001c0001t0008g0113 | 2 | 154 | 0.0130 | 252 | c.-31 others(273): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
| RER1_chr1_2386841_2410436 | 2401334 | C | CCCTCCTT others(245): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 354 | 0.0028 | 252 | c.365 others(267): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RER1_chr1_2386841_2410436 | 2401371 | T | TCCTCCCT others(245): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 354 | 0.0028 | 252 | c.365 others(267): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
| RETNLB_chr3_108750638_108762410 | 108759610 | C | CATACGTA others(245): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 452 | 0.0022 | 252 | c.-24 others(263): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2201 | chr3 | TogoVar | ||||||
| RETNLB_chr3_108750638_108762410 | 108759634 | C | CATACGTA others(245): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 452 | 0.0022 | 252 | c.-24 others(263): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2225 | chr3 | TogoVar | ||||||
| RIMBP2_chr12_130391133_130721299 | 130646226 | A | ACCACCTC others(245): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0055a0007c0017t0001g0056 | 2 | 180 | 0.0111 | 252 | c.-35 others(273): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
| RIPOR3_chr20_50581108_50696542 | 50666183 | A | ATTTCTTT others(245): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 1 | 280 | 0.0036 | 252 | c.3+2 others(267): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | ||||||
| RIPOR3_chr20_50581108_50696542 | 50666223 | T | TTTTCTTT others(245): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 280 | 0.0036 | 252 | c.3+2 others(267): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar |