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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(1951): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0040 | a0040c0049 | a0040c0049t0001 | a0040c0049t0001g0055 | 1 | 13 | 0.0769 | 1958 | c.354 others(1977): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1951): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 2 | 0.5000 | 1958 | c.44- others(1971): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(1951): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0289 | 1 | 158 | 0.0063 | 1958 | c.126 others(1975): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1951): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0003 | a0003c0013 | a0003c0013t0002 | a0003c0013t0002g0234 | 1 | 229 | 0.0044 | 1958 | c.228 others(1975): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1951): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0076 | 1 | 289 | 0.0035 | 1958 | c.-49 others(1969): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1951): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 | 1 | 4 | 0.2500 | 1958 | c.972 others(1971): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1951): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0348 | 1 | 84 | 0.0119 | 1958 | c.-10 others(1971): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1951): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0346 | 1 | 84 | 0.0119 | 1958 | c.-10 others(1971): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1951): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0347 | 1 | 84 | 0.0119 | 1958 | c.-10 others(1971): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1951): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp1 others(47): Show |
a0001a0005a0011 | a0001c0001a0005c0005a0011c0015 | a0001c0001t0001a0005c0005t0001a0011c0015t0001 | a0001c0001t0001g0007 a0001c0001t0001g0123 a0001c0001t0001g0218 others(45): Show |
50 | 133 | 0.3759 | 1958 | c.-10 others(1971): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1951): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0019 | 1 | 84 | 0.0119 | 1958 | c.-10 others(1971): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1951): Show |
intron_variant | MODIFIER | HG01243.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 a0001c0001t0001g0209 |
2 | 85 | 0.0235 | 1958 | c.-10 others(1971): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1951): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02055.hp1 HG03491.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 others(8): Show |
11 | 94 | 0.1170 | 1958 | c.-10 others(1971): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
NAT10_chr11_34100629_34151908 | 34150601 | T | TTGGTGGG others(1951): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 260 | 0.0038 | 1958 | c.*44 others(1969): Show |
NAT10 | ENSG00000135372.10 | transcript | ENST00000257829.8 | protein_coding | 3694 | chr11 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1951): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 135 | 0.0074 | 1958 | c.*31 others(1969): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(1951): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 87 | 0.0115 | 1958 | c.773 others(1973): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SULT6B1_chr2_37162820_37193670 | 37166500 | C | CCCTCCCT others(1951): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020 | 1 | 279 | 0.0036 | 1958 | c.*14 others(1969): Show |
SULT6B1 | ENSG00000138068.12 | transcript | ENST00000535679.6 | protein_coding | 1319 | chr2 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763752 | T | TCTCCTCT others(1952): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0193 | 1 | 194 | 0.0052 | 1959 | c.108 others(1976): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1952): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 50 | 0.0200 | 1959 | c.147 others(1976): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471294 | A | AATACATG others(1952): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 142 | 0.0070 | 1959 | c.183 others(1978): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619488 | C | CCCCCCCT others(1952): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 243 | 0.0041 | 1959 | c.-10 others(1978): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99927930 | A | ATGGTGGT others(1952): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0133 | 1 | 263 | 0.0038 | 1959 | c.190 others(1978): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1952): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 77 | 0.0130 | 1959 | c.635 others(1978): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1952): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 95 | 0.0105 | 1959 | c.*11 others(1980): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1952): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0146 | 1 | 84 | 0.0119 | 1959 | c.-10 others(1972): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1952): Show |
intron_variant | MODIFIER | HG00140.hp2 HG03098.hp1 NA18947.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 others(2): Show |
5 | 88 | 0.0568 | 1959 | c.-10 others(1972): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1952): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 84 | 0.0119 | 1959 | c.-10 others(1972): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1952): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0018 | 1 | 84 | 0.0119 | 1959 | c.-10 others(1972): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1952): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0210 | 1 | 84 | 0.0119 | 1959 | c.-10 others(1972): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1952): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG02074.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(3): Show |
6 | 89 | 0.0674 | 1959 | c.-10 others(1972): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38945851 | A | AGCTACTC others(1952): Show |
upstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 362 | 0.0028 | 1959 | c.-42 others(1970): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 4022 | chr1 | TogoVar | |||||||
TP73_chr1_3647516_3741201 | 3693924 | C | CCTCCTCC others(1952): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0301 a0001c0001t0002g0302 |
2 | 343 | 0.0058 | 1959 | c.186 others(1978): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411008 | C | CCTGCTGG others(1953): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0007 | a0001c0007t0038 | a0001c0007t0038g0171 | 1 | 261 | 0.0038 | 1960 | c.-20 others(1971): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1862 | chr19 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1953): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 4 | 0.2500 | 1960 | c.972 others(1973): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406228 | C | CGTCTTCC others(1953): Show |
3_prime_UTR_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0164 | 1 | 220 | 0.0045 | 1960 | c.*60 others(1969): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 605 | chr2 | TogoVar | ||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1953): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0143 | 1 | 84 | 0.0119 | 1960 | c.-10 others(1973): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1953): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 84 | 0.0119 | 1960 | c.-10 others(1973): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1953): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 84 | 0.0119 | 1960 | c.-10 others(1973): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 273209 | G | GACGTCAG others(1953): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0113 | 1 | 130 | 0.0077 | 1960 | c.438 others(1977): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852705 | T | TCCATCTT others(1953): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0328 | 1 | 82 | 0.0122 | 1960 | c.646 others(1977): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TP73_chr1_3647516_3741201 | 3693828 | G | GCAATCCC others(1953): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02040.hp2 NA18947.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0314 a0001c0002t0001g0063 a0001c0002t0001g0275 |
3 | 347 | 0.0086 | 1960 | c.186 others(1979): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TP73_chr1_3647516_3741201 | 3693828 | G | GCAATCCC others(1953): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18971.hp2 NA18994.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0006 | a0001c0002t0001g0188 a0001c0003t0006g0155 a0001c0003t0006g0336 |
3 | 347 | 0.0086 | 1960 | c.186 others(1979): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TP73_chr1_3647516_3741201 | 3693828 | G | GCAATCCC others(1953): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0337 | 1 | 345 | 0.0029 | 1960 | c.186 others(1979): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TP73_chr1_3647516_3741201 | 3693828 | G | GCAATCCC others(1953): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0330 | 1 | 345 | 0.0029 | 1960 | c.186 others(1979): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411267 | C | CCTGCTGG others(1954): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0003 | a0002c0003t0023 | a0002c0003t0023g0117 | 1 | 188 | 0.0053 | 1961 | c.-23 others(1972): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2121 | chr19 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33486637 | C | CTGTGTTA others(1954): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0010 | a0001c0010t0028 | a0001c0010t0028g0132 | 1 | 294 | 0.0034 | 1961 | c.-36 others(1972): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 3458 | chr20 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(1954): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0064 | 1 | 13 | 0.0769 | 1961 | c.354 others(1980): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6261580 | G | GCCCTCCA others(1954): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0057 | 1 | 188 | 0.0053 | 1961 | c.571 others(1978): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71680628 | T | TCCCTCTC others(1954): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0054 | 1 | 60 | 0.0167 | 1961 | c.150 others(1980): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | chr7 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1954): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03471.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 |
3 | 86 | 0.0349 | 1961 | c.-10 others(1974): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar |