regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNX5_chr20_17936600_17973794 | 17962611 | T | TAAAGACT others(44): Show |
intron_variant | MODIFIER | NA18953.hp2 NA18963.hp2 NA18965.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050a0001c0001t0003g0234a0001c0001t0003g0237others(6): Show | 10 | 394 | 0.0254 | 51 | c.52- others(66): Show |
SNX5 | ENSG00000089006.17 | transcript | ENST00000377759.9 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0266 | 1 | 302 | 0.0033 | 51 | c.949 others(68): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0273 | 1 | 302 | 0.0033 | 51 | c.949 others(68): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SPAAR_chr9_35904490_35916686 | 35906568 | G | GCCACACC others(44): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0001 | 2 | 420 | 0.0048 | 51 | c.-33 others(62): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2921 | chr9 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35906568 | G | GCCACACC others(44): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 420 | 0.0048 | 51 | c.-33 others(62): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2921 | chr9 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35906586 | T | TCCACCAC others(44): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 420 | 0.0024 | 51 | c.-32 others(62): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2903 | chr9 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35906589 | A | ACCACCAC others(44): Show |
upstream_gene_variant | MODIFIER | NA18947.hp1 NA18960.hp2 NA18974.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 7 | 420 | 0.0167 | 51 | c.-32 others(62): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2900 | chr9 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24189730 | A | ATTATATA others(44): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03688.hp2 NA19001.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0002a0001c0001t0006a0003c0011t0007others(1): Show | a0001c0001t0002g0082a0001c0001t0006g0321a0003c0011t0007g0180others(1): Show | 4 | 356 | 0.0112 | 51 | c.-11 others(72): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | chr13 | TogoVar | ||||||
SPDYE2_chr7_102546226_102568538 | 102547838 | A | AAAGAAAG others(44): Show |
upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 164 | 0.0061 | 51 | c.-38 others(62): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 3387 | chr7 | TogoVar | ||||||
SPOCK1_chr5_136970298_137504326 | 137160624 | T | TTATATAA others(44): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 152 | 0.0066 | 51 | c.233 others(70): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 3/10 | chr5 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14272671 | C | CAAAAAAA others(44): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0214 | 1 | 224 | 0.0045 | 51 | c.*69 others(62): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 4539 | chr11 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2347176 | A | ACACACTC others(44): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0186 | 1 | 414 | 0.0024 | 51 | c.135 others(70): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SPPL2B_chr19_2323684_2360095 | 2348213 | A | AGACTCAT others(44): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01928.hp2 others(8): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0002t0014a0001c0010t0011 | a0001c0002t0001g0005a0001c0002t0001g0075a0001c0002t0014g0005others(4): Show | 11 | 414 | 0.0266 | 51 | c.135 others(70): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | chr19 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54522704 | A | AGAGAGAG others(44): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0296 | 1 | 370 | 0.0027 | 51 | c.-47 others(68): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | chr2 | TogoVar | ||||||
SPTLC2_chr14_77500997_77621637 | 77531443 | T | TCTTCTTC others(44): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0047 | a0001c0001t0012g0227a0001c0001t0047g0231 | 2 | 246 | 0.0081 | 51 | c.130 others(70): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121396102 | C | CCCCCGCC others(44): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 274 | 0.0037 | 51 | c.*82 others(62): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 3229 | chr1 | TogoVar | ||||||
SRP54_chr14_34977992_35034567 | 35007572 | A | ATAAAATA others(44): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG00733.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0082a0001c0001t0002g0274a0001c0001t0002g0275others(33): Show | 36 | 396 | 0.0909 | 51 | c.360 others(66): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SRP54_chr14_34977992_35034567 | 35007616 | T | TATTTTAT others(44): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01175.hp1 HG03471.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0032others(5): Show | 8 | 396 | 0.0202 | 51 | c.360 others(66): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SRP68_chr17_76033785_76077517 | 76062738 | T | TATATATA others(44): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0320 | 1 | 365 | 0.0027 | 51 | c.562 others(68): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 412 | 0.0024 | 51 | c.138 others(68): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG00639.hp1 NA19082.hp1 |
a0002a0005 | a0002c0023a0005c0018 | a0002c0023t0002a0005c0018t0001 | a0002c0023t0002g0109a0005c0018t0001g0328 | 2 | 412 | 0.0049 | 51 | c.138 others(68): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ST7_chr7_116948501_117235176 | 117027463 | A | AAAAATTA others(44): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 188 | 0.0053 | 51 | c.152 others(70): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ST8SIA1_chr12_22188391_22339707 | 22331911 | C | CAACCATT others(44): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0003 | 1 | 282 | 0.0036 | 51 | c.236 others(68): Show |
ST8SIA1 | ENSG00000111728.11 | transcript | ENST00000396037.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
ST8SIA5_chr18_46662821_46762053 | 46719682 | T | TTTCTTTC others(44): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0016 | 1 | 362 | 0.0028 | 51 | c.132 others(70): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 1/6 | chr18 | TogoVar | ||||||
STAT2_chr12_56336597_56365107 | 56345524 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0261 | 1 | 268 | 0.0037 | 51 | c.210 others(68): Show |
STAT2 | ENSG00000170581.15 | transcript | ENST00000314128.9 | protein_coding | 22/23 | chr12 | TogoVar | ||||||
STAT2_chr12_56336597_56365107 | 56345524 | A | AAATATAT others(44): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0046 | 1 | 268 | 0.0037 | 51 | c.210 others(68): Show |
STAT2 | ENSG00000170581.15 | transcript | ENST00000314128.9 | protein_coding | 22/23 | chr12 | TogoVar | ||||||
STEAP1B_chr7_22414444_22505188 | 22456972 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0312 | 1 | 384 | 0.0026 | 51 | c.762 others(70): Show |
STEAP1B | ENSG00000105889.16 | transcript | ENST00000678116.1 | protein_coding | 4/4 | chr7 | TogoVar | ||||||
STEAP1B_chr7_22414444_22505188 | 22456972 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02015.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0219a0002c0002t0002g0261 | 2 | 384 | 0.0052 | 51 | c.762 others(70): Show |
STEAP1B | ENSG00000105889.16 | transcript | ENST00000678116.1 | protein_coding | 4/4 | chr7 | TogoVar | ||||||
STEAP1B_chr7_22414444_22505188 | 22456972 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | NA18522.hp1 NA18968.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0066a0003c0003t0002g0182 | 2 | 384 | 0.0052 | 51 | c.762 others(70): Show |
STEAP1B | ENSG00000105889.16 | transcript | ENST00000678116.1 | protein_coding | 4/4 | chr7 | TogoVar | ||||||
STEAP1B_chr7_22414444_22505188 | 22456972 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0329 | 1 | 384 | 0.0026 | 51 | c.762 others(70): Show |
STEAP1B | ENSG00000105889.16 | transcript | ENST00000678116.1 | protein_coding | 4/4 | chr7 | TogoVar | ||||||
STK33_chr11_8386870_8599228 | 8557286 | G | GGAGGGGA others(44): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01123.hp2 HG01261.hp1 others(15): Show |
a0001a0002a0004 | a0001c0002a0002c0003a0004c0006 | a0001c0002t0001a0001c0002t0005a0001c0002t0007others(2): Show | a0001c0002t0001g0180a0001c0002t0001g0226a0001c0002t0001g0227others(15): Show | 18 | 334 | 0.0539 | 51 | c.-46 others(72): Show |
STK33 | ENSG00000130413.16 | transcript | ENST00000687296.1 | protein_coding | 1/15 | chr11 | TogoVar | ||||||
STK33_chr11_8386870_8599228 | 8557286 | G | GGAGGGGA others(44): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG02055.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0166a0001c0001t0010g0167a0001c0001t0010g0169others(2): Show | 5 | 334 | 0.0150 | 51 | c.-46 others(72): Show |
STK33 | ENSG00000130413.16 | transcript | ENST00000687296.1 | protein_coding | 1/15 | chr11 | TogoVar | ||||||
STON1_chr2_48525154_48603513 | 48567930 | C | CTATAGGG others(44): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(47): Show |
a0001a0008a0009others(1): Show | a0001c0001a0001c0003a0008c0017others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0026others(6): Show | a0001c0001t0001g0029a0001c0001t0001g0031a0001c0001t0001g0032others(47): Show | 50 | 376 | 0.1330 | 51 | c.-47 others(70): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
STPG4_chr2_47081991_47160308 | 47092551 | A | AGGGAGGG others(44): Show |
intron_variant | MODIFIER | HG02559.hp1 NA19043.hp2 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0114a0002c0002t0001g0273a0002c0002t0001g0313 | 3 | 352 | 0.0085 | 51 | c.520 others(68): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 5/6 | chr2 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9429998 | A | ATATTATA others(44): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0040 | 1 | 188 | 0.0053 | 51 | c.542 others(70): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108771594 | C | CATATAAA others(44): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 2 | 334 | 0.0060 | 51 | c.439 others(68): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
STYX_chr14_52725166_52779989 | 52728360 | G | GGTCTGGA others(44): Show |
upstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 370 | 0.0027 | 51 | c.-21 others(62): Show |
STYX | ENSG00000198252.12 | transcript | ENST00000354586.5 | protein_coding | 1805 | chr14 | TogoVar | ||||||
SUCLG2_chr3_67369719_67659612 | 67444521 | A | ACCCCCCG others(44): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 280 | 0.0036 | 51 | c.106 others(72): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 9/10 | chr3 | TogoVar | ||||||
SUCLG2_chr3_67369719_67659612 | 67444521 | A | ACCCCCCG others(44): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02040.hp2 HG02132.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0140a0001c0001t0001g0238a0001c0001t0001g0267others(13): Show | 16 | 280 | 0.0571 | 51 | c.106 others(72): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 9/10 | chr3 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76172288 | T | TGGGGGGG others(44): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0012a0001c0007t0007 | a0001c0001t0012g0083a0001c0007t0007g0078 | 2 | 234 | 0.0086 | 51 | c.581 others(70): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SV2C_chr5_76078383_76338956 | 76172420 | T | TGGGGGGG others(44): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0096 | a0001c0002t0096g0112 | 1 | 234 | 0.0043 | 51 | c.581 others(70): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 426 | 0.0024 | 51 | c.236 others(66): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | ||||||
SYNCRIP_chr6_85608976_85647886 | 85631339 | C | CAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 364 | 0.0028 | 51 | c.666 others(68): Show |
SYNCRIP | ENSG00000135316.20 | transcript | ENST00000369622.8 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64100531 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01167.hp1 HG02300.hp1 |
a0004 | a0004c0003 | a0004c0003t0003a0004c0003t0004 | a0004c0003t0003g0045a0004c0003t0003g0066a0004c0003t0004g0050 | 3 | 150 | 0.0200 | 51 | c.123 others(72): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 63/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SYNE2_chr14_63848004_64231433 | 64100531 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0052 | 1 | 150 | 0.0067 | 51 | c.123 others(72): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 63/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(44): Show |
upstream_gene_variant | MODIFIER | NA18970.hp2 | a0013 | a0013c0013 | a0013c0013t0006 | a0013c0013t0006g0024 | 1 | 420 | 0.0024 | 51 | c.-64 others(60): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | ||||||
SYT1_chr12_78859774_79457008 | 79179456 | A | ATCTATAT others(44): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0008 | 1 | 62 | 0.0161 | 51 | c.-17 others(70): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
SYTL3_chr6_158645054_158769871 | 158704932 | G | GTAAGGCC others(44): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 292 | 0.0034 | 51 | c.395 others(68): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SYTL3_chr6_158645054_158769871 | 158705069 | G | GGTGACAG others(44): Show |
intron_variant | MODIFIER | HG02735.hp2 HG02738.hp1 HG03239.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0119others(1): Show | 4 | 292 | 0.0137 | 51 | c.395 others(68): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TACC3_chr4_1716521_1750171 | 1748304 | G | GAAAGAAG others(44): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 344 | 0.0029 | 51 | c.*32 others(62): Show |
TACC3 | ENSG00000013810.21 | transcript | ENST00000313288.9 | protein_coding | 3134 | chr4 | TogoVar |