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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RNF139_chr8_124469880_124493618 | 124483113 | A | AATATATA others(423): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0082 | 1 | 408 | 0.0025 | 430 | c.182 others(447): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133668443 | T | TACCCTCC others(423): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0017 | a0003c0017t0004 | a0003c0017t0004g0005 | 1 | 262 | 0.0038 | 430 | c.249 others(449): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1156927 | C | CAGGACCC others(423): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0013 | a0013c0031 | a0013c0031t0005 | a0013c0031t0005g0033 | 1 | 203 | 0.0049 | 430 | c.-12 others(449): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1156927 | C | CAGGACCC others(423): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0016 | a0001c0016t0005 | a0001c0016t0005g0030 | 1 | 203 | 0.0049 | 430 | c.-12 others(449): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1288511 | T | TCCCGTGT others(423): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 290 | 0.0035 | 430 | c.166 others(447): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289093 | C | CCGTGTCT others(423): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0007 | a0007c0005 | a0007c0005t0001 | a0007c0005t0001g0073 | 1 | 290 | 0.0035 | 430 | c.166 others(449): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2280735 | G | GGACGCCC others(423): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0085 | 1 | 330 | 0.0030 | 430 | c.970 others(449): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
SKI_chr1_2223319_2315213 | 2281142 | C | CGGCGGCG others(423): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 330 | 0.0030 | 430 | c.970 others(449): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1070132 | C | CCCCAGTG others(423): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0025 | 1 | 118 | 0.0085 | 430 | c.224 others(449): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC22A18_chr11_2897278_2930246 | 2921552 | A | AAGCCTGT others(423): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0141 | 1 | 405 | 0.0025 | 430 | c.865 others(445): Show |
SLC22A18 | ENSG00000110628.16 | transcript | ENST00000649076.2 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GGAGAAGG others(423): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 |
a0010 | a0010c0013 | a0010c0013t0005 | a0010c0013t0005g0002 | 2 | 214 | 0.0094 | 430 | c.206 others(449): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(423): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0023 | a0023c0041 | a0023c0041t0001 | a0023c0041t0001g0021 | 1 | 214 | 0.0047 | 430 | c.206 others(449): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75280343 | A | AATCTATA others(423): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03041.hp1 |
a0001 | a0001c0005 | a0001c0005t0005a0001c0005t0007 | a0001c0005t0005g0081 a0001c0005t0007g0090 |
2 | 156 | 0.0128 | 430 | c.176 others(447): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
SLX9_chr21_44935029_44981973 | 44973521 | A | AGTGCCCT others(423): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0222 | 1 | 334 | 0.0030 | 430 | c.569 others(445): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325242 | G | GGGGGGGC others(423): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0120 | 1 | 150 | 0.0067 | 430 | c.531 others(447): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325242 | G | GGGGGGGG others(423): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0123 | 1 | 150 | 0.0067 | 430 | c.531 others(447): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1221465 | G | GTCTCTCT others(423): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 190 | 0.0053 | 430 | c.719 others(449): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827442 | A | ATTATAGT others(423): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 302 | 0.0033 | 430 | c.12+ others(445): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827515 | A | ATATATTA others(423): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0287 | 1 | 302 | 0.0033 | 430 | c.12+ others(445): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827544 | T | TTATAGTT others(423): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01346.hp1 HG01928.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0008 | a0002c0002t0002g0023 a0002c0002t0002g0025 a0002c0002t0002g0026 others(1): Show |
4 | 302 | 0.0133 | 430 | c.12+ others(445): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24190020 | C | CATATAAT others(423): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0041 | a0001c0041t0005 | a0001c0041t0005g0161 | 1 | 356 | 0.0028 | 430 | c.-11 others(451): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(423): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0186 a0001c0001t0011g0187 |
2 | 251 | 0.0080 | 430 | c.*34 others(439): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852455 | A | ACCAGATC others(423): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 356 | 0.0028 | 430 | c.646 others(447): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(423): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 276 | 0.0036 | 430 | c.-18 others(449): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(423): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0114 | a0001c0001t0114g0037 | 1 | 276 | 0.0036 | 430 | c.-18 others(449): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61982228 | A | ACCCCAGA others(423): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0270 | 1 | 314 | 0.0032 | 430 | c.309 others(449): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 46772268 | T | TACACATA others(423): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0082 | 1 | 112 | 0.0089 | 430 | c.62+ others(445): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47128216 | C | CCATCCTC others(423): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 112 | 0.0089 | 430 | c.142 others(451): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
THNSL2_chr2_88165346_88191627 | 88181113 | T | TCTCTCTC others(423): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 | 1 | 54 | 0.0185 | 430 | c.803 others(447): Show |
THNSL2 | ENSG00000144115.18 | transcript | ENST00000674334.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
THOP1_chr19_2780503_2820807 | 2811894 | C | CCTGAATG others(423): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 370 | 0.0027 | 430 | c.190 others(447): Show |
THOP1 | ENSG00000172009.15 | transcript | ENST00000307741.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121748043 | A | ACTGGGGT others(423): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0107 | 1 | 314 | 0.0032 | 430 | c.189 others(445): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM44_chr3_194582678_194638419 | 194630145 | C | CGTACTGC others(423): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0170 a0002c0006t0002g0171 |
2 | 404 | 0.0050 | 430 | c.138 others(447): Show |
TMEM44 | ENSG00000145014.18 | transcript | ENST00000347147.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930701 | T | TAGGGAGG others(423): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 466 | 0.0022 | 430 | c.*48 others(441): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4668 | chr11 | TogoVar | |||||||
TPSD1_chr16_1251069_1264008 | 1258684 | C | CCCCCTCC others(423): Show |
3_prime_UTR_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0001 | 1 | 270 | 0.0037 | 430 | c.*31 others(439): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 5/5 | 312 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TPSD1_chr16_1251069_1264008 | 1258684 | C | CCCCCTCC others(423): Show |
3_prime_UTR_variant | MODIFIER | HG02071.hp1 | a0013 | a0013c0015 | a0013c0015t0040 | a0013c0015t0040g0018 | 1 | 270 | 0.0037 | 430 | c.*31 others(439): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 5/5 | 312 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TRIM2_chr4_153199443_153344317 | 153222058 | A | AAGGAAGG others(423): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0173 | 1 | 268 | 0.0037 | 430 | c.30+ others(447): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TRIM2_chr4_153199443_153344317 | 153222058 | A | AAGGAAGG others(423): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03225.hp1 HG03239.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0249 a0001c0001t0006g0123 a0001c0001t0007g0122 others(1): Show |
4 | 268 | 0.0149 | 430 | c.30+ others(447): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(423): Show |
downstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 272 | 0.0037 | 430 | c.*29 others(441): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188152729 | G | GGAGTGAG others(423): Show |
downstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 228 | 0.0044 | 430 | c.*53 others(441): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4987 | chr4 | TogoVar | |||||||
TRPC4AP_chr20_34997404_35097807 | 35097570 | T | TGTGTATA others(423): Show |
upstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 334 | 0.0030 | 430 | c.-47 others(441): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4764 | chr20 | TogoVar | |||||||
TRPC4AP_chr20_34997404_35097807 | 35097570 | T | TGTGTATA others(423): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 | 1 | 334 | 0.0030 | 430 | c.-47 others(441): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4764 | chr20 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028864 | C | CCCCATCA others(423): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 224 | 0.0045 | 430 | c.225 others(449): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TUBA8_chr22_18105809_18136732 | 18106374 | C | CGTGGTTC others(423): Show |
upstream_gene_variant | MODIFIER | NA19057.hp1 NA19080.hp2 NA19081.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0168 |
3 | 426 | 0.0070 | 430 | c.-44 others(441): Show |
TUBA8 | ENSG00000183785.16 | transcript | ENST00000330423.8 | protein_coding | 4434 | chr22 | TogoVar | |||||||
TUBA8_chr22_18105809_18136732 | 18106374 | C | CGTGGTTC others(423): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(137): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(110): Show |
140 | 426 | 0.3286 | 430 | c.-44 others(441): Show |
TUBA8 | ENSG00000183785.16 | transcript | ENST00000330423.8 | protein_coding | 4434 | chr22 | TogoVar | |||||||
TUBA8_chr22_18105809_18136732 | 18106374 | C | CGTGGTTC others(423): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0164 | 1 | 426 | 0.0024 | 430 | c.-44 others(441): Show |
TUBA8 | ENSG00000183785.16 | transcript | ENST00000330423.8 | protein_coding | 4434 | chr22 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222092 | C | CCATCACC others(423): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 360 | 0.0056 | 430 | c.*26 others(441): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2184 | chr6 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530556 | A | ATATTATA others(423): Show |
intron_variant | MODIFIER | HG01099.hp1 HG04204.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 a0001c0002t0001g0081 |
2 | 238 | 0.0084 | 430 | c.392 others(447): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
UNC5D_chr8_35230475_35801540 | 35509498 | T | TCTCCTCT others(423): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0028 others(10): Show |
13 | 64 | 0.2031 | 430 | c.104 others(449): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
USP37_chr2_218445251_218573351 | 218557668 | G | GCTGTAAT others(423): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 282 | 0.0036 | 430 | c.156 others(445): Show |
USP37 | ENSG00000135913.11 | transcript | ENST00000258399.8 | protein_coding | 4/25 | chr2 | TogoVar | |||||||
UVSSA_chr4_1342208_1393049 | 1372767 | T | TCCCTGCA others(423): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0064 | 1 | 400 | 0.0025 | 430 | c.128 others(449): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |