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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATATAAT others(962): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0127 | 1 | 236 | 0.0042 | 969 | c.342 others(990): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(962): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01070.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 others(15): Show |
19 | 320 | 0.0594 | 969 | c.380 others(986): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1297966 | C | CTCTCCTA others(962): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0049 | 1 | 159 | 0.0063 | 969 | c.811 others(986): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CTU2_chr16_88701503_88720396 | 88712915 | C | CGAGAGCC others(962): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 418 | 0.0024 | 969 | c.737 others(982): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1470970 | T | TCCAGGCT others(962): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0003 | a0003c0007 | a0003c0007t0007 | a0003c0007t0007g0038 | 1 | 40 | 0.0250 | 969 | c.107 others(988): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619524 | T | TGCTCCCC others(962): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 250 | 0.0040 | 969 | c.-10 others(988): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 659603 | G | GCATCCTG others(962): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 378 | 0.0027 | 969 | c.*49 others(980): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4596 | chr8 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807023 | A | ACCTTCCC others(962): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 314 | 0.0032 | 969 | c.*28 others(980): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2737 | chr2 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252905 | C | CCACCACC others(962): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0294 | 1 | 366 | 0.0027 | 969 | c.666 others(986): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252908 | C | CCACCACC others(962): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0256 | 1 | 366 | 0.0027 | 969 | c.666 others(986): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(962): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 350 | 0.0029 | 969 | c.94- others(982): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(962): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0036 | 1 | 350 | 0.0029 | 969 | c.94- others(982): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399244 | C | CCACCATC others(962): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 314 | 0.0032 | 969 | c.-25 others(986): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152787 | A | ACCTCCTC others(962): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0188 | 1 | 274 | 0.0037 | 969 | c.804 others(986): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(962): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0138 | 1 | 323 | 0.0031 | 969 | c.-21 others(980): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323166 | T | TATATATA others(962): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 323 | 0.0031 | 969 | c.-18 others(980): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1803 | chr21 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(962): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0241 | 1 | 276 | 0.0036 | 969 | c.*65 others(980): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79887065 | G | GACATGGG others(962): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03579.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0226 a0001c0005t0001g0227 |
2 | 312 | 0.0064 | 969 | c.625 others(988): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87739002 | C | CCATCCAC others(962): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 380 | 0.0026 | 969 | c.507 others(986): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62360411 | A | AGGTGGGT others(962): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01074.hp1 |
a0035a0036 | a0035c0035a0036c0036 | a0035c0035t0001a0036c0036t0001 | a0035c0035t0001g0172 a0036c0036t0001g0171 |
2 | 186 | 0.0108 | 969 | c.450 others(986): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LRFN2_chr6_40386591_40592364 | 40491696 | G | GTGTTTCC others(962): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 228 | 0.0044 | 969 | c.-18 others(988): Show |
LRFN2 | ENSG00000156564.10 | transcript | ENST00000338305.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1930522 | T | TGCCACGT others(962): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 264 | 0.0038 | 969 | c.180 others(988): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(962): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 272 | 0.0037 | 969 | c.250 others(984): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MPG_chr16_73225_90846 | 81975 | A | ACCCCTTC others(962): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 442 | 0.0023 | 969 | c.301 others(986): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050044 | T | CGCCACCC others(962): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | 969 | c.-40 others(979): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3867 | chr9 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 81975 | A | ACCCCTTC others(962): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 350 | 0.0029 | 969 | c.*47 others(980): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3410 | chr16 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811333 | C | CTCCCTTC others(962): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 178 | 0.0056 | 969 | c.773 others(984): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(962): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 308 | 0.0033 | 969 | c.371 others(986): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(962): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18612.hp1 NA19054.hp2 |
a0001a0004a0015 | a0001c0001a0004c0009a0015c0022 | a0001c0001t0001a0004c0009t0001a0015c0022t0001 | a0001c0001t0001g0157 a0004c0009t0001g0069 a0015c0022t0001g0024 |
3 | 308 | 0.0097 | 969 | c.371 others(986): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(962): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0017 | a0017c0016 | a0017c0016t0001 | a0017c0016t0001g0178 | 1 | 308 | 0.0033 | 969 | c.371 others(986): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(962): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01433.hp1 |
a0001a0007a0018 | a0001c0001a0007c0007a0018c0048 | a0001c0001t0001a0007c0007t0001a0018c0048t0001 | a0001c0001t0001g0096 a0007c0007t0001g0097 a0018c0048t0001g0095 |
3 | 334 | 0.0090 | 969 | c.45- others(984): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(962): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01256.hp2 HG01257.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 21 | 412 | 0.0510 | 969 | c.-48 others(980): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(962): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02148.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0012 |
7 | 412 | 0.0170 | 969 | c.-48 others(980): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(962): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 412 | 0.0024 | 969 | c.-48 others(980): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1073081 | C | CCCCCAGC others(962): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0004 | 1 | 118 | 0.0085 | 969 | c.224 others(986): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273645 | A | ACCATCCA others(962): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 392 | 0.0026 | 969 | c.228 others(988): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(962): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0185 | 1 | 432 | 0.0023 | 969 | c.199 others(986): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(962): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 432 | 0.0023 | 969 | c.199 others(986): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(962): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 432 | 0.0023 | 969 | c.199 others(986): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TMEM117_chr12_43831081_44394758 | 43919853 | T | TGTGGTTG others(962): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 others(3): Show |
6 | 110 | 0.0546 | 969 | c.278 others(988): Show |
TMEM117 | ENSG00000139173.10 | transcript | ENST00000266534.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14347271 | C | CTGGACCA others(962): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0176 | 1 | 198 | 0.0051 | 969 | c.204 others(990): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(962): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 338 | 0.0030 | 969 | c.*35 others(988): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370310 | C | CGTGTGTA others(962): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01496.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0018 | 2 | 468 | 0.0043 | 969 | c.-6- others(984): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370325 | A | ATGTGTGT others(962): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02148.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0101 a0002c0002t0003g0106 |
2 | 468 | 0.0043 | 969 | c.-6- others(984): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRL3_chr4_61195326_62083335 | 61917693 | G | GGCAGAGG others(963): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03540.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0026a0001c0006t0006 | a0001c0002t0026g0027 a0001c0006t0006g0033 |
2 | 58 | 0.0345 | 970 | c.211 others(989): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTCCC others(963): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0025 | a0025c0044 | a0025c0044t0109 | a0025c0044t0109g0070 | 1 | 262 | 0.0038 | 970 | c.106 others(989): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(963): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0134 | 1 | 262 | 0.0038 | 970 | c.775 others(985): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1449723 | C | CCATCACC others(963): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0088 | 1 | 185 | 0.0054 | 970 | c.93+ others(985): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44182049 | A | ACACATAC others(963): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0373 | 1 | 460 | 0.0022 | 970 | c.193 others(987): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(963): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0158 | 1 | 320 | 0.0031 | 970 | c.380 others(987): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |