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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMIM14_chr4_39541336_39643865 | 39584481 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02300.hp1 HG02602.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0010 | a0001c0001t0004g0278a0001c0001t0005g0194a0001c0001t0010g0298 | 3 | 344 | 0.0087 | 27 | c.76- others(44): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM17_chr19_56638159_56662247 | 56658693 | A | AAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02615.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0015others(1): Show | a0001c0001t0001g0001a0001c0001t0010g0205a0001c0001t0015g0043others(1): Show | 4 | 418 | 0.0096 | 27 | c.*34 others(38): Show |
SMIM17 | ENSG00000268182.6 | transcript | ENST00000598409.6 | protein_coding | 1447 | chr19 | TogoVar | ||||||
SMIM36_chr17_55444856_55516452 | 55500797 | T | TTATAATA others(20): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02683.hp2 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0152a0001c0001t0004g0153a0001c0001t0004g0154 | 3 | 340 | 0.0088 | 27 | c.*17 others(48): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
SMIM36_chr17_55444856_55516452 | 55501214 | A | ATATATCT others(20): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01934.hp1 HG02738.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0015a0001c0001t0001g0043a0001c0001t0001g0053others(3): Show | 6 | 340 | 0.0177 | 27 | c.*17 others(46): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
SMIM36_chr17_55444856_55516452 | 55501291 | T | TTATTATA others(20): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0290 | 1 | 340 | 0.0029 | 27 | c.*17 others(46): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
SMIM36_chr17_55444856_55516452 | 55501395 | T | TATATATT others(20): Show |
intron_variant | MODIFIER | HG01081.hp1 NA18947.hp1 NA18983.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0087a0001c0001t0005g0084a0001c0001t0005g0088others(2): Show | 5 | 340 | 0.0147 | 27 | c.*17 others(46): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168599578 | A | ACCCCCAT others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(2): Show | a0001c0001t0001g0077a0001c0001t0001g0114a0001c0001t0006g0128others(4): Show | 7 | 180 | 0.0389 | 27 | c.824 others(42): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMPD2_chr6_109435724_109448919 | 109446428 | T | TGTGGTCT others(20): Show |
downstream_gene_variant | MODIFIER | NA19063.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0005 | 1 | 438 | 0.0023 | 27 | c.*25 others(38): Show |
SMPD2 | ENSG00000135587.9 | transcript | ENST00000258052.8 | protein_coding | 2510 | chr6 | TogoVar | ||||||
SMPX_chrX_21700978_21763116 | 21731427 | A | ATATGTGT others(20): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 289 | 0.0035 | 27 | c.*14 others(44): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | ||||||
SMPX_chrX_21700978_21763116 | 21731428 | T | TATGTGTG others(20): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0038 | 2 | 289 | 0.0069 | 27 | c.*14 others(44): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | ||||||
SMPX_chrX_21700978_21763116 | 21731428 | T | TATGTGTG others(20): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00673.hp1 others(64): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(51): Show | 67 | 289 | 0.2318 | 27 | c.*14 others(44): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | ||||||
SMPX_chrX_21700978_21763116 | 21731455 | A | AATGTGTG others(20): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01261.hp1 HG01516.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204a0001c0001t0001g0205a0001c0001t0001g0206others(4): Show | 7 | 289 | 0.0242 | 27 | c.*14 others(44): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | ||||||
SMPX_chrX_21700978_21763116 | 21731543 | G | GTATGTGT others(20): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 289 | 0.0035 | 27 | c.*14 others(44): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | ||||||
SMR3A_chr4_70355760_70372158 | 70367013 | G | GTTGCACC others(20): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0045 | 1 | 458 | 0.0022 | 27 | c.*19 others(34): Show |
SMR3A | ENSG00000109208.5 | transcript | ENST00000226460.5 | protein_coding | 3/3 | 20 | chr4 | TogoVar | |||||
SMS_chrX_21935709_21999837 | 21944544 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02145.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0235a0001c0001t0004g0141 | 2 | 298 | 0.0067 | 27 | c.49+ others(42): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SMURF2_chr17_64537282_64667307 | 64607913 | A | ATGAGCCA others(20): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 | 1 | 174 | 0.0058 | 27 | c.53- others(42): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | ||||||
SMURF2_chr17_64537282_64667307 | 64637923 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0151a0001c0001t0006g0159 | 2 | 174 | 0.0115 | 27 | c.52+ others(44): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | ||||||
SMYD1_chr2_88062825_88118384 | 88065219 | T | TCCCCTCC others(20): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 338 | 0.0030 | 27 | c.-26 others(38): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 2605 | chr2 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214299465 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 380 | 0.0026 | 27 | c.174 others(44): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245765077 | C | CACACACA others(20): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0146 | 1 | 150 | 0.0067 | 27 | c.107 others(44): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245806916 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 150 | 0.0067 | 27 | c.107 others(48): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245833073 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02004.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0011a0001c0002t0001g0058 | 2 | 150 | 0.0133 | 27 | c.107 others(48): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325185 | G | GGGGGGCG others(20): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0130 | 1 | 150 | 0.0067 | 27 | c.531 others(44): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325270 | G | GGGGGGCG others(20): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG00738.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0038a0001c0001t0001g0093a0001c0001t0002g0052others(5): Show | 8 | 150 | 0.0533 | 27 | c.531 others(44): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246348060 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 150 | 0.0067 | 27 | c.228 others(44): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
SMYD4_chr17_1774485_1834902 | 1794105 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0006 | a0006c0005 | a0006c0005t0005 | a0006c0005t0005g0097 | 1 | 390 | 0.0026 | 27 | c.153 others(46): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | ||||||
SMYD4_chr17_1774485_1834902 | 1794105 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0013 | a0013c0013 | a0013c0013t0016 | a0013c0013t0016g0055 | 1 | 390 | 0.0026 | 27 | c.153 others(46): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | ||||||
SNAI1_chr20_49977980_49993886 | 49991714 | C | CAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | NA18953.hp1 NA19009.hp2 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0003 | 3 | 440 | 0.0068 | 27 | c.*36 others(38): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 2829 | chr20 | TogoVar | ||||||
SNAI3_chr16_88672688_88691507 | 88682762 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | NA19079.hp2 NA19085.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029a0001c0001t0002g0122 | 3 | 400 | 0.0075 | 27 | c.77- others(42): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
SNAP23_chr15_42490634_42538058 | 42525451 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0238 | 1 | 308 | 0.0033 | 27 | c.267 others(44): Show |
SNAP23 | ENSG00000092531.10 | transcript | ENST00000249647.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SNAP25_chr20_10213830_10312418 | 10238905 | A | AAATAATA others(20): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0282 | 1 | 340 | 0.0029 | 27 | c.-64 others(46): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNCAIP_chr5_122307237_122469219 | 122330117 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 222 | 0.0045 | 27 | c.-47 others(46): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SNCAIP_chr5_122307237_122469219 | 122351536 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 222 | 0.0045 | 27 | c.-47 others(46): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SNED1_chr2_240993618_241100568 | 241011238 | A | AGGTCTCC others(20): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03139.hp2 NA20905.hp1 others(1): Show |
a0001a0002a0011 | a0001c0068a0002c0009a0002c0084others(1): Show | a0001c0068t0018a0002c0009t0046a0002c0084t0037others(1): Show | a0001c0068t0018g0320a0002c0009t0046g0082a0002c0084t0037g0318others(1): Show | 4 | 344 | 0.0116 | 27 | c.213 others(46): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNRK_chr3_43281540_43356143 | 43322951 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 258 | 0.0039 | 27 | c.590 others(44): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SNRPA1_chr15_101276510_101300248 | 101289925 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 442 | 0.0023 | 27 | c.309 others(44): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
SNRPB2_chr20_16725026_16747564 | 16735298 | A | AAGTAATT others(20): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0054 | 1 | 472 | 0.0021 | 27 | c.238 others(44): Show |
SNRPB2 | ENSG00000125870.11 | transcript | ENST00000246071.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNRPB2_chr20_16725026_16747564 | 16735305 | T | TTGTACAG others(20): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02717.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0027a0001c0001t0009g0027 | 3 | 472 | 0.0064 | 27 | c.238 others(44): Show |
SNRPB2 | ENSG00000125870.11 | transcript | ENST00000246071.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNTB2_chr16_69182164_69314052 | 69199595 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02647.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0021 | a0001c0002t0004g0022a0001c0002t0004g0033a0001c0002t0004g0040others(1): Show | 4 | 218 | 0.0184 | 27 | c.580 others(46): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SNTG1_chr8_49906407_50801692 | 49938603 | T | TCTTTTCT others(20): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 106 | 0.0094 | 27 | c.-10 others(48): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50701579 | T | TTTCTTCT others(20): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02647.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0011 | a0001c0001t0004g0072a0001c0001t0005g0023a0001c0001t0011g0099 | 3 | 106 | 0.0283 | 27 | c.103 others(46): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 996673 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0040 | 1 | 190 | 0.0053 | 27 | c.72+ others(44): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1031528 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02293.hp2 |
a0001a0003 | a0001c0002a0003c0008 | a0001c0002t0001a0003c0008t0001 | a0001c0002t0001g0022a0003c0008t0001g0095 | 2 | 190 | 0.0105 | 27 | c.73- others(44): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1031528 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03471.hp1 NA20129.hp1 |
a0001a0005 | a0001c0002a0005c0006 | a0001c0002t0002a0005c0006t0002 | a0001c0002t0002g0002a0005c0006t0002g0003 | 2 | 190 | 0.0105 | 27 | c.73- others(44): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1031529 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0108 | 1 | 190 | 0.0053 | 27 | c.73- others(44): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1056873 | C | CCACGCTG others(20): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0108 | 1 | 190 | 0.0053 | 27 | c.73- others(44): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1056875 | C | CCGCTGTG others(20): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 190 | 0.0053 | 27 | c.73- others(44): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1262582 | T | TCTCAGTC others(20): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG01106.hp1 others(46): Show |
a0003a0004a0005others(4): Show | a0003c0007a0003c0008a0004c0004others(9): Show | a0003c0007t0001a0003c0007t0002a0003c0008t0001others(12): Show | a0003c0007t0001g0008a0003c0007t0001g0055a0003c0007t0001g0104others(46): Show | 49 | 190 | 0.2579 | 27 | c.107 others(46): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1262778 | G | GCAGACGA others(20): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG01106.hp1 others(45): Show |
a0003a0004a0005others(5): Show | a0003c0007a0003c0008a0004c0004others(10): Show | a0003c0007t0001a0003c0007t0002a0003c0008t0001others(13): Show | a0003c0007t0001g0008a0003c0007t0001g0055a0003c0007t0001g0104others(45): Show | 48 | 190 | 0.2526 | 27 | c.107 others(46): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1262778 | G | GCAGGCGA others(20): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(1): Show |
a0001a0019 | a0001c0001a0001c0002a0019c0025 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0102a0001c0002t0001g0109a0001c0002t0002g0076others(1): Show | 4 | 190 | 0.0211 | 27 | c.107 others(46): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |