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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IDE_chr10_92446684_92579093 | 92524325 | T | TATTATAT others(603): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0280 | 1 | 251 | 0.0040 | 610 | c.661 others(627): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 4/24 | chr10 | TogoVar | |||||||
IGSF9B_chr11_133891438_133961968 | 133932577 | G | GACAGACA others(603): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 77 | 0.0130 | 610 | c.968 others(625): Show |
IGSF9B | ENSG00000080854.16 | transcript | ENST00000533871.8 | protein_coding | 7/19 | chr11 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132172930 | C | CTCCCTCT others(603): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0041 | 1 | 156 | 0.0064 | 610 | c.*11 others(631): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(603): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0014 | a0014c0026 | a0014c0026t0028 | a0014c0026t0028g0285 | 1 | 162 | 0.0062 | 610 | c.-19 others(621): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 168035444 | A | AGGCGGGA others(603): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0113 | 1 | 60 | 0.0167 | 610 | c.317 others(627): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62360519 | G | GTGGAGGG others(603): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0124 | a0002c0124t0001 | a0002c0124t0001g0025 | 1 | 156 | 0.0064 | 610 | c.450 others(627): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(603): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03017.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018 | a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0018g0035 |
3 | 82 | 0.0366 | 610 | c.125 others(627): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 857822 | A | AGTGGTGT others(603): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0242 | 1 | 196 | 0.0051 | 610 | c.153 others(629): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(603): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0267 | 1 | 6 | 0.1667 | 610 | c.368 others(627): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(603): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0041 | 1 | 6 | 0.1667 | 610 | c.368 others(627): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(603): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0200 | 1 | 6 | 0.1667 | 610 | c.368 others(627): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACGCTT others(603): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0251 | 1 | 215 | 0.0047 | 610 | c.129 others(627): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MBD3L3_chr19_7051207_7063676 | 7061804 | A | AATATATA others(603): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 108 | 0.0093 | 610 | c.-32 others(621): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061804 | A | AATATATA others(603): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 108 | 0.0093 | 610 | c.-32 others(621): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(603): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0012 | a0012c0016 | a0012c0016t0003 | a0012c0016t0003g0119 | 1 | 32 | 0.0313 | 610 | c.218 others(625): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(603): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0054 | a0054c0049 | a0054c0049t0003 | a0054c0049t0003g0029 | 1 | 32 | 0.0313 | 610 | c.218 others(625): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27342928 | T | TCGTCTGG others(603): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0284 | 1 | 298 | 0.0034 | 610 | c.622 others(629): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27342928 | T | TCGTCTGG others(603): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0250 | 1 | 298 | 0.0034 | 610 | c.622 others(629): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27342928 | T | TCGTCTGG others(603): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0171 | a0001c0001t0008g0233 a0001c0001t0171g0220 |
2 | 299 | 0.0067 | 610 | c.622 others(629): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27342928 | T | TCGTCTGG others(603): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00738.hp2 HG01975.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014a0001c0001t0034others(3): Show | a0001c0001t0013g0231 a0001c0001t0014g0273 a0001c0001t0014g0318 others(4): Show |
7 | 304 | 0.0230 | 610 | c.622 others(629): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27342928 | T | TCGTCTGG others(603): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02630.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0088a0001c0001t0116others(1): Show | a0001c0001t0023g0113 a0001c0001t0088g0043 a0001c0001t0116g0042 others(1): Show |
4 | 301 | 0.0133 | 610 | c.622 others(629): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27342928 | T | TCGTCTGG others(603): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02572.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0112a0001c0001t0117a0001c0001t0121 | a0001c0001t0112g0041 a0001c0001t0117g0048 a0001c0001t0121g0172 |
3 | 300 | 0.0100 | 610 | c.622 others(629): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27342930 | G | GTCTGGGA others(603): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0130a0001c0001t0191 | a0001c0001t0130g0092 a0001c0001t0191g0107 |
2 | 317 | 0.0063 | 610 | c.622 others(629): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27342930 | G | GTCTGGGA others(603): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0016 | 1 | 316 | 0.0032 | 610 | c.622 others(629): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(603): Show |
intron_variant | MODIFIER | NA18969.hp2 NA19086.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0198 a0002c0002t0002g0204 |
2 | 9 | 0.2222 | 610 | c.250 others(625): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
NUP205_chr7_135552917_135653753 | 135570756 | T | TTATATAT others(603): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0010 | 1 | 267 | 0.0037 | 610 | c.29- others(623): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NUP205_chr7_135552917_135653753 | 135570756 | T | TTATATAT others(603): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0141 | 1 | 267 | 0.0037 | 610 | c.29- others(623): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68326722 | A | AGGGAGGT others(603): Show |
intron_variant | MODIFIER | HG01169.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0028 a0001c0001t0006g0121 |
2 | 60 | 0.0333 | 610 | c.155 others(629): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(603): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 254 | 0.0039 | 610 | c.-16 others(621): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(603): Show |
upstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 254 | 0.0039 | 610 | c.-16 others(621): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143981315 | G | GTGATGGT others(603): Show |
intron_variant | MODIFIER | NA18952.hp2 NA19060.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0230 a0002c0002t0002g0231 |
2 | 331 | 0.0060 | 610 | c.255 others(629): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(603): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 122 | 0.0082 | 610 | c.*70 others(621): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PGAM5_chr12_132705842_132727734 | 132718575 | G | GGTCCTGG others(603): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 | 1 | 135 | 0.0074 | 610 | c.719 others(625): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137517968 | T | TCACTCCA others(603): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0023 | a0023c0028 | a0023c0028t0001 | a0023c0028t0001g0172 | 1 | 97 | 0.0103 | 610 | c.108 others(629): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 11/34 | chr9 | TogoVar | |||||||
POU2F3_chr11_120235140_120324945 | 120267745 | A | AAAAAAAA others(603): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0262 | 1 | 63 | 0.0159 | 610 | c.98- others(625): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2F3_chr11_120235140_120324945 | 120267745 | A | AAAAAAAA others(603): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0187 a0001c0001t0002g0188 |
2 | 64 | 0.0313 | 610 | c.98- others(625): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133769 | C | CTCTCCCT others(603): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 199 | 0.0050 | 610 | c.*23 others(621): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2057 | chr19 | TogoVar | |||||||
PWWP2B_chr10_132392200_132422859 | 132392560 | A | AATGGTGA others(603): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0011 | 1 | 316 | 0.0032 | 610 | c.-46 others(621): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4639 | chr10 | TogoVar | |||||||
RAB40C_chr16_585066_634268 | 618540 | G | GGGTGTAC others(603): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 347 | 0.0029 | 610 | c.264 others(625): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RABEP2_chr16_28899421_28930238 | 28915167 | T | TCTCCTGC others(603): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 125 | 0.0080 | 610 | c.433 others(625): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 3/12 | chr16 | TogoVar | |||||||
RABEP2_chr16_28899421_28930238 | 28915167 | T | TCTCCTGC others(603): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 125 | 0.0080 | 610 | c.433 others(625): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 3/12 | chr16 | TogoVar | |||||||
RABEP2_chr16_28899421_28930238 | 28915167 | T | TCTCCTGC others(603): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18957.hp2 NA18962.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0195 a0001c0001t0001g0196 others(1): Show |
4 | 128 | 0.0313 | 610 | c.433 others(625): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 3/12 | chr16 | TogoVar | |||||||
RABEP2_chr16_28899421_28930238 | 28915167 | T | TCTCCTGC others(603): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 125 | 0.0080 | 610 | c.433 others(625): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 3/12 | chr16 | TogoVar | |||||||
RABEP2_chr16_28899421_28930238 | 28915167 | T | TCTCCTGC others(603): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 a0001c0001t0001g0138 |
2 | 126 | 0.0159 | 610 | c.433 others(625): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 3/12 | chr16 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130392922 | T | TGCGTCAG others(603): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0147 | 1 | 66 | 0.0152 | 610 | c.*44 others(621): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3210 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130392922 | T | TGCGTCAG others(603): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0154 | 1 | 66 | 0.0152 | 610 | c.*44 others(621): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3210 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130392922 | T | TGCGTCAG others(603): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00639.hp1 others(49): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(13): Show | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0029 others(49): Show |
52 | 117 | 0.4444 | 610 | c.*44 others(621): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3210 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130392922 | T | TGCGTCAG others(603): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 66 | 0.0152 | 610 | c.*44 others(621): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3210 | chr12 | TogoVar | |||||||
RSPH1_chr21_42467486_42501224 | 42477225 | C | CCCACAGC others(603): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0293 | 1 | 122 | 0.0082 | 610 | c.727 others(623): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(603): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0126 | 1 | 121 | 0.0083 | 610 | c.59- others(627): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar |