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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(929): Show |
upstream_gene_variant | MODIFIER | NA18947.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 11 | 0.1818 | 936 | c.-48 others(947): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744475 | T | TTGCTAGC others(929): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0084 | a0001c0084t0059 | a0001c0084t0059g0165 | 1 | 146 | 0.0068 | 936 | c.655 others(953): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744475 | T | TTGCTAGC others(929): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01978.hp1 |
a0001 | a0001c0015 | a0001c0015t0007 | a0001c0015t0007g0140 a0001c0015t0007g0146 |
2 | 147 | 0.0136 | 936 | c.655 others(953): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744721 | T | TCCTGGTT others(929): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0085 | a0001c0085t0003 | a0001c0085t0003g0162 | 1 | 122 | 0.0082 | 936 | c.655 others(953): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3178051 | A | ATCGGGCT others(929): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 259 | 0.0077 | 936 | c.-74 others(945): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 717 | chr19 | TogoVar | |||||||
S1PR4_chr19_3173769_3185332 | 3178051 | A | ATCGGGCT others(929): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 258 | 0.0039 | 936 | c.-74 others(945): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 717 | chr19 | TogoVar | |||||||
S1PR4_chr19_3173769_3185332 | 3178129 | C | CTCGGGCT others(929): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 149 | 0.0067 | 936 | c.-66 others(945): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 639 | chr19 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(929): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0003a0001c0012t0003 | a0001c0003t0003g0089 a0001c0012t0003g0096 |
2 | 193 | 0.0104 | 936 | c.89- others(949): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432110 | A | ACAGGGTG others(929): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0100 | 1 | 347 | 0.0029 | 936 | c.101 others(953): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432187 | G | GTGGATAG others(929): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0249 | 1 | 337 | 0.0030 | 936 | c.101 others(953): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197114 | C | CATCTATC others(929): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0215 | 1 | 396 | 0.0025 | 936 | c.107 others(953): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197114 | C | CATCTATC others(929): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0349 | 1 | 396 | 0.0025 | 936 | c.107 others(953): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197122 | C | CATCCATC others(929): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0076 | 1 | 395 | 0.0025 | 936 | c.107 others(953): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197150 | C | CATCTATC others(929): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0130 | 1 | 373 | 0.0027 | 936 | c.107 others(953): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(929): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0086 | 1 | 273 | 0.0037 | 936 | c.107 others(953): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(929): Show |
intron_variant | MODIFIER | HG02071.hp1 HG03834.hp2 NA18975.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0015a0002c0002t0002 | a0001c0001t0015g0017 a0002c0002t0002g0085 |
3 | 275 | 0.0109 | 936 | c.107 others(953): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(929): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01952.hp2 HG02148.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009 a0002c0002t0002g0074 |
3 | 275 | 0.0109 | 936 | c.107 others(953): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(929): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0277 | 1 | 273 | 0.0037 | 936 | c.107 others(953): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(929): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0133 | 1 | 273 | 0.0037 | 936 | c.107 others(953): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(929): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0105 | 1 | 273 | 0.0037 | 936 | c.107 others(953): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(929): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0110 | 1 | 273 | 0.0037 | 936 | c.107 others(953): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(929): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0005 | a0002c0005t0009 | a0002c0005t0009g0374 | 1 | 273 | 0.0037 | 936 | c.107 others(953): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCTATC others(929): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0138 | 1 | 273 | 0.0037 | 936 | c.107 others(953): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(929): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01978.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0160 a0002c0002t0002g0112 |
2 | 202 | 0.0099 | 936 | c.107 others(953): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(929): Show |
intron_variant | MODIFIER | NA18968.hp1 NA18974.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0243 a0002c0002t0002g0116 |
2 | 202 | 0.0099 | 936 | c.107 others(953): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(929): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02735.hp1 |
a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0115 a0002c0002t0016g0128 |
2 | 202 | 0.0099 | 936 | c.107 others(953): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(929): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0096 | 1 | 201 | 0.0050 | 936 | c.107 others(953): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(929): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 31 | 0.0323 | 936 | c.638 others(951): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1272855 | C | CCACACAT others(929): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01978.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0357 a0001c0002t0002g0041 |
2 | 187 | 0.0107 | 936 | c.228 others(953): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161948 | C | CACCCCTG others(929): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 12 | 0.0833 | 936 | c.*22 others(947): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 1980 | chr11 | TogoVar | |||||||
TMEM192_chr4_165065608_165117860 | 165116330 | T | TTATGCAA others(929): Show |
upstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 54 | 0.0185 | 936 | c.-35 others(947): Show |
TMEM192 | ENSG00000170088.14 | transcript | ENST00000306480.11 | protein_coding | 3471 | chr4 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870128 | A | ACACCACA others(929): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 300 | 0.0033 | 936 | c.*35 others(955): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870703 | A | ACACACCA others(929): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02040.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 a0001c0001t0001g0265 |
2 | 275 | 0.0073 | 936 | c.*35 others(955): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
WASHC2A_chr10_50062954_50138509 | 50066625 | T | TCTAAGCA others(929): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0015 | a0015c0019 | a0015c0019t0001 | a0015c0019t0001g0013 | 1 | 298 | 0.0034 | 936 | c.-13 others(947): Show |
WASHC2A | ENSG00000099290.17 | transcript | ENST00000282633.10 | protein_coding | 1328 | chr10 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(929): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 100 | 0.0100 | 936 | c.-10 others(953): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(930): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02630.hp2 HG02717.hp1 others(2): Show |
a0001a0002a0007 | a0001c0026a0001c0050a0002c0028others(1): Show | a0001c0026t0005a0001c0050t0005a0002c0028t0005others(1): Show | a0001c0026t0005g0048 a0001c0026t0005g0133 a0001c0050t0005g0036 others(2): Show |
5 | 16 | 0.3125 | 937 | c.387 others(956): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(930): Show |
intron_variant | MODIFIER | NA19043.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0005 | a0001c0001t0005g0044 a0001c0003t0005g0024 |
2 | 13 | 0.1538 | 937 | c.387 others(956): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(930): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG02071.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0002a0001c0002t0002a0001c0007t0002others(10): Show | a0001c0001t0002g0213 a0001c0002t0002g0116 a0001c0002t0002g0162 others(18): Show |
21 | 32 | 0.6563 | 937 | c.387 others(956): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(930): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0115 | 1 | 12 | 0.0833 | 937 | c.387 others(956): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(930): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0232 | 1 | 12 | 0.0833 | 937 | c.387 others(956): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(930): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0231 | 1 | 12 | 0.0833 | 937 | c.387 others(956): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(930): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 2 | 0.5000 | 937 | c.276 others(956): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(930): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0101 | 1 | 112 | 0.0089 | 937 | c.217 others(956): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(930): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0163 | 1 | 152 | 0.0066 | 937 | c.217 others(956): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(930): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0006 | a0006c0013 | a0006c0013t0009 | a0006c0013t0009g0033 | 1 | 5 | 0.2000 | 937 | c.234 others(958): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(930): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0278 a0001c0002t0002g0279 |
2 | 71 | 0.0282 | 937 | c.*51 others(948): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(930): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0163 | 1 | 70 | 0.0143 | 937 | c.*51 others(948): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(930): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0289 | 1 | 70 | 0.0143 | 937 | c.*51 others(948): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(930): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 174 | 0.0057 | 937 | c.342 others(958): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56097876 | A | AATATATA others(930): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0009 | a0009c0012 | a0009c0012t0004 | a0009c0012t0004g0030 | 1 | 254 | 0.0039 | 937 | c.181 others(956): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar |