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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(987): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0057 | 1 | 296 | 0.0034 | 994 | c.368 others(1011): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1930522 | T | TGCCACGT others(987): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 264 | 0.0038 | 994 | c.180 others(1013): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
METTL15_chr11_28103388_28338507 | 28207516 | T | TTTTATTG others(987): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0326 | 1 | 332 | 0.0030 | 994 | c.271 others(1011): Show |
METTL15 | ENSG00000169519.21 | transcript | ENST00000407364.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MFRP_chr11_119333942_119351705 | 119351506 | C | CTCCTCTC others(987): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0055 | 1 | 318 | 0.0031 | 994 | c.-49 others(1005): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4802 | chr11 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(987): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0094 | 1 | 330 | 0.0030 | 994 | c.-5+ others(1009): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158668243 | T | TCCTTACC others(987): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 378 | 0.0027 | 994 | c.147 others(1013): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(987): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 | 1 | 308 | 0.0033 | 994 | c.371 others(1011): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397687 | C | CGGGGGGG others(987): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0277 | 1 | 340 | 0.0029 | 994 | c.227 others(1011): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | chr22 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(987): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 67 | 0.0149 | 994 | c.159 others(1011): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(987): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 186 | 0.0054 | 994 | c.-50 others(1005): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(987): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 HG03239.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0040 | 3 | 186 | 0.0161 | 994 | c.-50 others(1005): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
SNX27_chr1_151607050_151704080 | 151607979 | C | CCCAGGCT others(987): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0119 | a0001c0001t0119g0003 | 1 | 366 | 0.0027 | 994 | c.-42 others(1005): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 4070 | chr1 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(987): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0035a0001c0001t0002g0053a0001c0001t0002g0188others(1): Show | 4 | 258 | 0.0155 | 994 | c.113 others(1013): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121747310 | C | CTGGGGTA others(987): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0226 | 1 | 314 | 0.0032 | 994 | c.189 others(1011): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
TMEM255B_chr13_113754226_113821995 | 113812879 | A | AGTGGGTC others(987): Show |
3_prime_UTR_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0060 | a0001c0002t0060g0102 | 1 | 260 | 0.0039 | 994 | c.*10 others(1005): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 9/9 | 1007 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(987): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229a0001c0001t0002g0230 | 2 | 338 | 0.0059 | 994 | c.*35 others(1013): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(987): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0254 | 1 | 394 | 0.0025 | 994 | c.129 others(1011): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(987): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034a0001c0001t0003g0307a0001c0001t0003g0308 | 4 | 394 | 0.0102 | 994 | c.129 others(1011): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(987): Show |
intron_variant | MODIFIER | NA18967.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 | 2 | 394 | 0.0051 | 994 | c.129 others(1011): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
USP2_chr11_119350215_119386690 | 119351506 | C | CTCCTCTC others(987): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0029 | 1 | 202 | 0.0050 | 994 | c.*53 others(1005): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3708 | chr11 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467379 | G | GGGAGGGA others(987): Show |
downstream_gene_variant | MODIFIER | NA18969.hp2 | a0042 | a0042c0052 | a0042c0052t0015 | a0042c0052t0015g0022 | 1 | 271 | 0.0037 | 994 | c.*99 others(1003): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 870 | chrX | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45224526 | G | GGGAGCCC others(988): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp2 HG02970.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0036a0001c0002t0008g0037a0001c0002t0008g0038others(2): Show | 5 | 350 | 0.0143 | 995 | c.*23 others(1006): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
BRSK2_chr11_1384934_1467689 | 1431912 | G | GTCTGGTC others(988): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0016 | 1 | 360 | 0.0028 | 995 | c.92- others(1010): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(988): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0007 | a0007c0005 | a0007c0005t0008 | a0007c0005t0008g0259 | 1 | 338 | 0.0030 | 995 | c.300 others(1012): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882024 | C | CAGGGGGA others(988): Show |
intron_variant | MODIFIER | HG01496.hp2 NA20805.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0159a0001c0003t0003g0160 | 2 | 288 | 0.0069 | 995 | c.303 others(1014): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(988): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018a0001c0001t0004g0019 | 2 | 320 | 0.0063 | 995 | c.380 others(1012): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78438445 | G | GGAGGAGG others(988): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0010 | a0010c0090 | a0010c0090t0001 | a0010c0090t0001g0039 | 1 | 252 | 0.0040 | 995 | c.118 others(1014): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGAG others(988): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 170 | 0.0059 | 995 | c.86- others(1008): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(988): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 350 | 0.0029 | 995 | c.94- others(1008): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
IL16_chr15_81191879_81319058 | 81198745 | T | TACAGTGG others(988): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0034 | 1 | 342 | 0.0029 | 995 | c.-10 others(1014): Show |
IL16 | ENSG00000172349.19 | transcript | ENST00000683961.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IL16_chr15_81191879_81319058 | 81198745 | T | TACAGTGG others(988): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03540.hp2 |
a0004 | a0004c0007a0004c0028 | a0004c0007t0010a0004c0028t0010 | a0004c0007t0010g0177a0004c0028t0010g0176 | 2 | 342 | 0.0059 | 995 | c.-10 others(1014): Show |
IL16 | ENSG00000172349.19 | transcript | ENST00000683961.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IL16_chr15_81191879_81319058 | 81198745 | T | TACAGTGG others(988): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01257.hp2 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0018a0001c0002t0001a0001c0005t0054others(12): Show | a0001c0001t0018g0215a0001c0002t0001g0196a0001c0002t0001g0200others(42): Show | 45 | 342 | 0.1316 | 995 | c.-10 others(1014): Show |
IL16 | ENSG00000172349.19 | transcript | ENST00000683961.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IL16_chr15_81191879_81319058 | 81198745 | T | TACAGTGG others(988): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00544.hp2 others(93): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0010others(38): Show | a0001c0001t0006g0028a0001c0001t0006g0029a0001c0001t0006g0030others(92): Show | 96 | 342 | 0.2807 | 995 | c.-10 others(1014): Show |
IL16 | ENSG00000172349.19 | transcript | ENST00000683961.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IL16_chr15_81191879_81319058 | 81198745 | T | TACAGTGG others(988): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18954.hp2 |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0045a0003c0003t0008 | a0001c0002t0045g0307a0003c0003t0008g0308 | 2 | 342 | 0.0059 | 995 | c.-10 others(1014): Show |
IL16 | ENSG00000172349.19 | transcript | ENST00000683961.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IL16_chr15_81191879_81319058 | 81198745 | T | TACAGTGG others(988): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02083.hp1 HG02165.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003others(1): Show | a0001c0001t0013a0001c0002t0005a0003c0003t0001others(1): Show | a0001c0001t0013g0255a0001c0002t0005g0253a0003c0003t0001g0250others(8): Show | 11 | 342 | 0.0322 | 995 | c.-10 others(1014): Show |
IL16 | ENSG00000172349.19 | transcript | ENST00000683961.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(988): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01952.hp2 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020a0001c0001t0002g0023a0001c0001t0002g0122 | 3 | 204 | 0.0147 | 995 | c.978 others(1012): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(988): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0008 | 1 | 114 | 0.0088 | 995 | c.56- others(1012): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(988): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 272 | 0.0037 | 995 | c.250 others(1010): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(988): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0071a0001c0001t0006g0065 | 2 | 262 | 0.0076 | 995 | c.129 others(1012): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50276402 | G | GCAGGGAG others(988): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0254 | 1 | 302 | 0.0033 | 995 | c.533 others(1012): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(988): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 67 | 0.0149 | 995 | c.159 others(1012): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(988): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 67 | 0.0149 | 995 | c.159 others(1012): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(988): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 67 | 0.0149 | 995 | c.159 others(1012): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(988): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0046 | 2 | 67 | 0.0299 | 995 | c.159 others(1012): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(988): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0021 | 1 | 334 | 0.0030 | 995 | c.45- others(1010): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(988): Show |
upstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 186 | 0.0054 | 995 | c.-50 others(1006): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(988): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 238 | 0.0042 | 995 | c.392 others(1012): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(988): Show |
intron_variant | MODIFIER | HG02258.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 2 | 394 | 0.0051 | 995 | c.129 others(1012): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(988): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0281 | 1 | 394 | 0.0025 | 995 | c.129 others(1012): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(988): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0302 | 1 | 394 | 0.0025 | 995 | c.129 others(1012): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |