Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SMOC2_chr6_168436184_168672992	168561534	GCCCTGAG others(45): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02976.hp2 NA18973.hp2 HG02572.hp1 HG02976.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0070 a0001c0001t0001g0114 a0001c0001t0001g0124	3	180	0.0167	-52	c.637 others(71): Show c.637+12357_637+12408delATTCTTGGAGGAGGTGTCATTTTCAT ACCCTGAGACACGAGGCTCTCACTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561560	ATTCTTGG others(45): Show ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02293.hp1 HG02602.hp1 others(3): Show HG00558.hp1 HG02293.hp1 HG02602.hp1 HG03139.hp1 HG03654.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0085 others(3): Show a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0113 a0001c0002t0002g0022	6	180	0.0333	-52	c.637 others(71): Show c.637+12381_637+12432delATACCCTGAGACACGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561669	CGGAGGAG others(45): Show CGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATT CTT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	180	0.0056	-52	c.637 others(71): Show c.637+12537_637+12588delCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561742	GCCCTGAG others(45): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19000.hp2 HG03834.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0173 a0001c0002t0002g0007 a0001c0001t0001g0173 a0001c0002t0002g0007	2	180	0.0111	-52	c.637 others(71): Show c.637+12565_637+12616delATTCTTGGAGGAGGTGTCATTTTCAT ACCCTGAGACACGAGGCTCTCACTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561768	ATTCTTGG others(45): Show ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG04204.hp2 HG00280.hp2 HG01081.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0011g0119 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0011g0119	3	180	0.0167	-52	c.637 others(71): Show c.637+12589_637+12640delATACCCTGAGACACGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562106	ACCCTGAG others(45): Show ACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTG	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	180	0.0056	-52	c.637 others(71): Show c.637+12915_637+12966delGAGGCTCTCACTGTGTTCTCGGAGGA GGTGTCATTTTCCTGCCCTGAGACAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562158	GCCCTGAG others(45): Show GCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATA	G G	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	180	0.0056	-52	c.637 others(71): Show c.637+12967_637+13018delAAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562241	CGGAGGAG others(45): Show CGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATT CTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02129.hp1 HG02738.hp2 others(9): Show HG02109.hp1 HG02129.hp1 HG02738.hp2 HG02895.hp1 HG02922.hp1 HG03130.hp1 HG03490.hp1 NA18941.hp2 NA18951.hp2 NA18963.hp1 NA19000.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0003t0001 a0001c0005t0001 a0001c0013t0002	a0001c0001t0001g0127 a0001c0001t0001g0156 a0001c0002t0002g0002 others(9): Show a0001c0001t0001g0127 a0001c0001t0001g0156 a0001c0002t0002g0002 a0001c0002t0002g0011 a0001c0002t0002g0021 a0001c0002t0002g0055 a0001c0002t0002g0058 a0001c0002t0002g0065 a0001c0002t0008g0047 a0001c0003t0001g0155 a0001c0005t0001g0126 a0001c0013t0002g0033	12	180	0.0667	-52	c.637 others(71): Show c.637+13071_637+13122delAAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCCTGCCCTGAGACAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562293	TGGAGGAG others(45): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00673.hp1 others(7): Show HG00099.hp1 HG00099.hp2 HG00673.hp1 HG00673.hp2 HG01167.hp1 HG02293.hp1 HG03209.hp2 HG04184.hp1 HG04204.hp1 NA18943.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0003c0006	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0011t0006 a0003c0006t0012	a0001c0001t0001g0074 a0001c0001t0001g0097 a0001c0001t0001g0099 others(7): Show a0001c0001t0001g0074 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0166 a0001c0001t0001g0177 a0001c0001t0004g0122 a0001c0002t0002g0043 a0001c0002t0002g0061 a0001c0011t0006g0167 a0003c0006t0012g0018	10	180	0.0556	-52	c.637 others(71): Show c.637+13123_637+13174delGAGGCTCTCACTGTGTTCTCGGAGGA GGTGTCATTTTCCTGCCCTGAGACAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562326	GAGGCTCT others(45): Show GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	180	0.0056	-52	c.637 others(71): Show c.637+13136_637+13187delTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACAAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562366	GCCCTGAG others(45): Show GCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01361.hp2 HG02129.hp2 others(4): Show HG00597.hp1 HG01361.hp2 HG02129.hp2 HG02630.hp1 NA18941.hp1 NA18973.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0009 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0002 a0001c0005t0001	a0001c0001t0001g0070 a0001c0001t0009g0161 a0001c0002t0002g0028 others(4): Show a0001c0001t0001g0070 a0001c0001t0009g0161 a0001c0002t0002g0028 a0001c0002t0002g0056 a0001c0002t0002g0059 a0001c0002t0002g0066 a0001c0005t0001g0162	7	180	0.0389	-52	c.637 others(71): Show c.637+13175_637+13226delAAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562391	CATTCTTG others(45): Show CATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCAC TGT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03834.hp2 HG02602.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0173 a0001c0001t0001g0174	2	180	0.0111	-52	c.637 others(71): Show c.637+13189_637+13240delATTCTTGGAGGAGGTGTCATTTTCAT ACCCTGAGACACGAGGCTCTCACTGT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMURF1_chr7_99022440_99149108	99063237	TTATTTAT others(45): Show TTATTTATATATATATATATATATATATATATATATATATATATATATAT ATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02723.hp2 HG02486.hp1 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0018 a0001c0004t0017g0144 a0001c0004t0017g0018 a0001c0004t0017g0144	2	264	0.0076	-52	c.56- others(67): Show c.56-1452_56-1401delTATATATATATATATATATATATATATATA TATATATATATATATATAAATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMYD3_chr1_245744347_246512279	246483974	TACTAGTT others(45): Show TACTAGTTACACCTAAAAACACATCACTTCAACCAAAATACCTAAACCAT TGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02895.hp2 HG02970.hp1 HG01109.hp2 HG02895.hp2 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0005 a0001c0001 a0002c0003 a0002c0005	a0001c0001t0001 a0002c0003t0002 a0002c0005t0001 a0001c0001t0001 a0002c0003t0002 a0002c0005t0001	a0001c0001t0001g0055 a0002c0003t0002g0116 a0002c0005t0001g0146 a0001c0001t0001g0055 a0002c0003t0002g0116 a0002c0005t0001g0146	3	150	0.0200	-52	c.164 others(71): Show c.164+23028_164+23079delGCAATGGTTTAGGTATTTTGGTTGAA GTGATGTGTTTTTAGGTGTAACTAGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246484078	TACTAGTT others(45): Show TACTAGTTACACCTAAAAACACATCACTTCAACCAAAATACCTAAACCAT TGC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG02895.hp2 others(1): Show HG02257.hp1 HG02717.hp1 HG02895.hp2 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0007 others(1): Show a0002c0003 a0002c0005 a0002c0007 a0002c0008	a0002c0003t0002 a0002c0005t0001 a0002c0007t0001 others(1): Show a0002c0003t0002 a0002c0005t0001 a0002c0007t0001 a0002c0008t0002	a0002c0003t0002g0116 a0002c0005t0001g0146 a0002c0007t0001g0123 others(1): Show a0002c0003t0002g0116 a0002c0005t0001g0146 a0002c0007t0001g0123 a0002c0008t0002g0125	4	150	0.0267	-52	c.164 others(71): Show c.164+22924_164+22975delGCAATGGTTTAGGTATTTTGGTTGAA GTGATGTGTTTTTAGGTGTAACTAGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246484179	TTGCACTA others(45): Show TTGCACTAGTTACACCTAAAAACACATCACTTCAACCAAAATACCTAAAC CAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00597.hp2 others(44): Show HG00140.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02273.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03491.hp1 HG03491.hp2 HG03831.hp2 HG04115.hp1 NA18747.hp1 NA18747.hp2 NA18963.hp1 NA18965.hp2 NA18971.hp1 NA18984.hp1 NA19000.hp2 NA19057.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0012 a0001c0014 a0002c0003 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0011t0002 a0001c0012t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0003c0010t0001	a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 others(44): Show a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0068 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0002t0001g0016 a0001c0002t0001g0033 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0002g0037 a0001c0002t0002g0070 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0006t0001g0076 a0001c0011t0002g0049 a0001c0012t0002g0074 a0001c0014t0002g0091 a0002c0003t0001g0133 a0002c0003t0002g0130 a0003c0010t0001g0031	47	150	0.3133	-52	c.164 others(71): Show c.164+22823_164+22874delGTGGTTTAGGTATTTTGGTTGAAGTG ATGTGTTTTTAGGTGTAACTAGTGCA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246484612	GAAAACAC others(45): Show GAAAACACATCACTTCAACCAAAATACCTAAACCATTGCACTAGTTACAC CTA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0084 a0001c0002t0002g0084	1	150	0.0067	-52	c.164 others(71): Show c.164+22390_164+22441delTAGGTGTAACTAGTGCAATGGTTTAG GTATTTTGGTTGAAGTGATGTGTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246484754	CACTAGTT others(45): Show CACTAGTTACACCTGAAAACACATCACTTCAACCAAAATACCTAAACCAT TGT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02970.hp1 HG03130.hp1 HG02895.hp2 HG02970.hp1 HG03130.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0017 a0002c0003 a0002c0005 a0002c0017	a0002c0003t0002 a0002c0005t0001 a0002c0017t0001 a0002c0003t0002 a0002c0005t0001 a0002c0017t0001	a0002c0003t0002g0116 a0002c0005t0001g0146 a0002c0017t0001g0122 a0002c0003t0002g0116 a0002c0005t0001g0146 a0002c0017t0001g0122	3	150	0.0200	-52	c.164 others(71): Show c.164+22248_164+22299delACAATGGTTTAGGTATTTTGGTTGAA GTGATGTGTTTTCAGGTGTAACTAGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNED1_chr2_240993618_241100568	241082904	CACCTGCT others(45): Show CACCTGCTGTGTGCCGGGCACTGTCCATTTAGTCAACAGATGACTTACTG AGT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0009 a0001c0002t0003 a0001c0002t0009	a0001c0002t0003g0177 a0001c0002t0009g0187 a0001c0002t0003g0177 a0001c0002t0009g0187	2	344	0.0058	-52	c.412 others(69): Show c.4121+564_4121+615delCCATTTAGTCAACAGATGACTTACTGAG TACCTGCTGTGTGCCGGGCACTGT	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	29/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1106178	CACATGCT others(45): Show CACATGCTGTCACTCGGGTTCAGGGTATGGAGAGCTCCTTGGTAATAGTG GAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp1 HG02615.hp1 others(2): Show HG01109.hp2 HG02486.hp1 HG02615.hp1 HG03453.hp1 NA18522.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0005 a0003c0007 a0005c0006 a0002c0005 a0003c0007 a0005c0006	a0002c0005t0001 a0003c0007t0001 a0003c0007t0002 others(1): Show a0002c0005t0001 a0003c0007t0001 a0003c0007t0002 a0005c0006t0001	a0002c0005t0001g0101 a0003c0007t0001g0008 a0003c0007t0001g0104 others(2): Show a0002c0005t0001g0101 a0003c0007t0001g0008 a0003c0007t0001g0104 a0003c0007t0002g0075 a0005c0006t0001g0079	5	190	0.0263	-52	c.325 others(69): Show c.325+7769_325+7820delACATGCTGTCACTCGGGTTCAGGGTATG GAGAGCTCCTTGGTAATAGTGGAT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16			chr2	TogoVar
SNTG2_chr2_945849_1372613	1106179	ACATGCTG others(45): Show ACATGCTGTCACTCGGGTTCAGGGTATGGAGAGCTCCTTGGTAATAGTGG ATG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0165 a0002c0003t0001g0165	1	190	0.0053	-52	c.325 others(69): Show c.325+7771_325+7822delATGCTGTCACTCGGGTTCAGGGTATGGA GAGCTCCTTGGTAATAGTGGATGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1106692	GTGGATGC others(45): Show GTGGATGCGTGCTGTCACTCGGGTGCAGGGTGTGGAGAGCTCCTTGATAA TAA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0165 a0002c0003t0001g0165	1	190	0.0053	-52	c.325 others(69): Show c.325+8287_325+8338delTGCGTGCTGTCACTCGGGTGCAGGGTGT GGAGAGCTCCTTGATAATAATGGA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1106993	CCTTGGTA others(45): Show CCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTG	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0079 a0005c0006t0001g0079	1	190	0.0053	-52	c.325 others(69): Show c.325+8592_325+8643delGAGTGGACACGTGCTGTCACTCGGGTGC AGGGTATGGAGAGCTGCTTGGTAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107108	GTGGACAC others(45): Show GTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGATAA TAA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01975.hp2 HG02738.hp2 others(7): Show HG01346.hp1 HG01975.hp2 HG02738.hp2 HG03490.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18943.hp1 NA18969.hp1 NA19000.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0021	a0001c0002 a0002c0005 a0003c0007 others(3): Show a0001c0002 a0002c0005 a0003c0007 a0004c0014 a0006c0010 a0021c0030	a0001c0002t0001 a0002c0005t0001 a0003c0007t0001 others(3): Show a0001c0002t0001 a0002c0005t0001 a0003c0007t0001 a0004c0014t0001 a0006c0010t0001 a0021c0030t0001	a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0028 others(7): Show a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0028 a0001c0002t0001g0137 a0002c0005t0001g0032 a0002c0005t0001g0107 a0003c0007t0001g0055 a0004c0014t0001g0054 a0006c0010t0001g0012 a0021c0030t0001g0160	10	190	0.0526	-52	c.325 others(69): Show c.325+8744_325+8795delATAATAATGGACACGTGCTGTCACTCGG GTGCAGGGTATGGAGAGCTCCTTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107210	GAGTGGAC others(45): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02572.hp2 HG03239.hp2 others(1): Show HG01257.hp1 HG02572.hp2 HG03239.hp2 HG03927.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0003 a0004c0004 others(1): Show a0001c0001 a0002c0003 a0004c0004 a0009c0029	a0001c0001t0001 a0002c0003t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0004c0004t0001 a0009c0029t0001	a0001c0001t0001g0179 a0002c0003t0001g0185 a0004c0004t0001g0177 others(1): Show a0001c0001t0001g0179 a0002c0003t0001g0185 a0004c0004t0001g0177 a0009c0029t0001g0152	4	190	0.0211	-52	c.325 others(69): Show c.325+8852_325+8903delTAGTGGACACGTGCTGTCACTCGGGTGC AGGGTATGGAGAGCTCCTTGGTAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107470	GAGTGGTC others(45): Show GAGTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AAT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0082 a0005c0006t0001g0082	1	190	0.0053	-52	c.325 others(69): Show c.325+9066_325+9117delTCACGTGCTGTCACTCGGGTGCAGGGTA TGGAGAGCTGCTTGGTAATAGTGG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107626	GAGTGGAC others(45): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AAT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03490.hp2 HG04184.hp2 others(1): Show HG02258.hp1 HG03490.hp2 HG04184.hp2 NA18943.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0004 a0004c0014 a0001c0002 a0004c0004 a0004c0014	a0001c0002t0001 a0004c0004t0001 a0004c0014t0001 a0001c0002t0001 a0004c0004t0001 a0004c0014t0001	a0001c0002t0001g0028 a0001c0002t0001g0137 a0004c0004t0001g0088 others(1): Show a0001c0002t0001g0028 a0001c0002t0001g0137 a0004c0004t0001g0088 a0004c0014t0001g0054	4	190	0.0211	-52	c.325 others(69): Show c.325+9259_325+9310delGCTTGGTAATAGTGGACACGTGCTGTCA CTCGGGTGCAGGGTATGGAGAGCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107834	GAGTGGAC others(45): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AAT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	190	0.0053	-52	c.325 others(69): Show c.325+9467_325+9518delGCTTGGTAATAGTGGACACGTGCTGTCA CTCGGGTGCAGGGTATGGAGAGCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107938	GAGTGGAC others(45): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02572.hp2 HG03239.hp2 others(1): Show HG01257.hp1 HG02572.hp2 HG03239.hp2 HG03927.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0003 a0004c0004 others(1): Show a0001c0001 a0002c0003 a0004c0004 a0009c0029	a0001c0001t0001 a0002c0003t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0004c0004t0001 a0009c0029t0001	a0001c0001t0001g0179 a0002c0003t0001g0185 a0004c0004t0001g0177 others(1): Show a0001c0001t0001g0179 a0002c0003t0001g0185 a0004c0004t0001g0177 a0009c0029t0001g0152	4	190	0.0211	-52	c.325 others(69): Show c.325+9580_325+9631delTAGTGGACACGTGCTGTCACTCGGGTGC AGGGTATGGAGAGCTCCTTGGTAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108094	TAGTGGAC others(45): Show TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAG	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	190	0.0053	-52	c.325 others(69): Show c.325+9727_325+9778delCCTTGGTAAGAGTGGACACGTGCTGTCA CTCGGGTGCAGGGTATGGAGAGCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108406	TAGTGGAC others(45): Show TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0014 a0014	a0014c0035 a0014c0035	a0014c0035t0001 a0014c0035t0001	a0014c0035t0001g0071 a0014c0035t0001g0071	1	190	0.0053	-52	c.325 others(71): Show c.325+10039_325+10090delCCTTGGTAAGAGTGGACACGTGCTGT CACTCGGGTGCAGGGTATGGAGAGCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108770	GAGTGGAC others(45): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AAT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp1 HG02615.hp1 others(1): Show HG01109.hp2 HG02486.hp1 HG02615.hp1 NA18522.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0005 a0003c0007 a0005c0006 a0002c0005 a0003c0007 a0005c0006	a0002c0005t0001 a0003c0007t0001 a0005c0006t0001 a0002c0005t0001 a0003c0007t0001 a0005c0006t0001	a0002c0005t0001g0101 a0003c0007t0001g0008 a0003c0007t0001g0104 others(1): Show a0002c0005t0001g0101 a0003c0007t0001g0008 a0003c0007t0001g0104 a0005c0006t0001g0079	4	190	0.0211	-52	c.325 others(71): Show c.325+10403_325+10454delGCTTGGTAATAGTGGACACGTGCTGT CACTCGGGTGCAGGGTATGGAGAGCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108936	GTGCTGTC others(45): Show GTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGAC ACA	G G	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0134 a0004c0004t0001g0134	1	190	0.0053	-52	c.325 others(71): Show c.325+10559_325+10610delCCTTGGTAAGAGTGGACACATGCTGT CACTCGGGTGCAGGGTATGGAGAGCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX25_chr4_185204598_185368966	185210390	GCGGGCCC others(45): Show GCGGGCCCGGCCGTGGACGCGAGCGTTCCCCGGCGCCCGCGCGCGGCGGG CTC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03834.hp1 HG01168.hp2 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0273 a0001c0003t0001g0274	2	276	0.0073	-52	c.429 others(67): Show c.429+141_429+192delCCGGCCGTGGACGCGAGCGTTCCCCGGCGC CCGCGCGCGGCGGGCTCCGGGC	SNX25	ENSG00000109762.17	transcript	ENST00000652585.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SNX8_chr7_2246770_2319441	2268874	CGGCCAGC others(45): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTG CCT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04115.hp1 HG03831.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0128 a0001c0001t0011g0137 a0001c0001t0011g0128 a0001c0001t0011g0137	2	370	0.0054	-52	c.621 others(67): Show c.621+633_621+684delAGGCAGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	5/10			chr7	TogoVar
SOCS7_chr17_38346844_38410593	38408350	AGACTCCG others(45): Show AGACTCCGCCTCAAAAAAAAAAAAAAAAAAAAAAAGCTGGGGCTGGGCGC GGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG02109.hp2 HG02145.hp2 others(16): Show HG01993.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02809.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 NA18906.hp2 NA19030.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0006 a0001c0001 a0001c0004 a0002c0006	a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 others(8): Show a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0031 a0001c0001t0053 a0001c0004t0030 a0001c0004t0032 a0002c0006t0007 a0002c0006t0029	a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0042 others(16): Show a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0042 a0001c0001t0013g0012 a0001c0001t0013g0013 a0001c0001t0013g0015 a0001c0001t0014g0120 a0001c0001t0014g0121 a0001c0001t0014g0125 a0001c0001t0017g0172 a0001c0001t0017g0173 a0001c0001t0019g0189 a0001c0001t0019g0193 a0001c0001t0031g0194 a0001c0001t0053g0039 a0001c0004t0030g0023 a0001c0004t0032g0022 a0002c0006t0007g0040 a0002c0006t0029g0041	19	289	0.0657	-52	c.88 others(63): Show c.8869_*8920delGACTCCGCCTCAAAAAAAAAAAAAAAAAAAAAAA GCTGGGGCTGGGCGCGGT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding		2758		chr17	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(45): Show TACACACACACACACACACACACACACACACACACACACACACACACACA CAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 NA18906.hp2 NA18973.hp2 HG02145.hp2 NA18906.hp2 NA18973.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0018 a0002c0003t0001g0223 a0001c0001t0001g0018 a0002c0003t0001g0223	3	364	0.0082	-52	c.11 others(63): Show c.1181_*1232delACACACACACACACACACACACACACACACACAC ACACACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		124		chr21	TogoVar
SORBS1_chr10_95306773_95566371	95358670	ACACACAC others(45): Show ACACACACACACACAGACACGCACATGCACAGACATGCGCGCGCGCGCGC GCG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0176 a0001c0002t0039g0176	1	300	0.0033	-52	c.195 others(69): Show c.1956-919_1956-868delCGCGCGCGCGCGCGCGCATGTCTGTGCA TGTGCGTGTCTGTGTGTGTGTGTG	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	22/32			chr10	TogoVar
SOX6_chr11_15961449_16361546	16132299	GAAGGAAG others(45): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAAAAGAAAGAA AGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0123	1	218	0.0046	-52	c.778 others(71): Show c.778-20428_778-20377delTCTTTCTTTCTTTTTTCTTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132390	GAAAGAAA others(45): Show GAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0064 a0001c0001t0016g0064	1	218	0.0046	-52	c.778 others(71): Show c.778-20519_778-20468delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTTTTCTTTCTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132394	GAAAGAAA others(45): Show GAAAGAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AAA	G G	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	218	0.0046	-52	c.778 others(71): Show c.778-20523_778-20472delTTTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTTTTCTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SPATA13_chr13_24155720_24312069	24278922	TTCCCTCT others(45): Show TTCCCTCTTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03540.hp1 HG02818.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0027 a0001c0002t0050g0338 a0001c0002t0050g0027 a0001c0002t0050g0338	2	356	0.0056	-52	c.216 others(71): Show c.2165-5206_2165-5155delTTTCCTTCCTTCCTTCCTTCCCTCCT TCCTTCCTTCCCTCCTTCCCTCCCTC	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA33_chr16_89652836_89675458	89664509	TGGGCCCG others(45): Show TGGGCCCGACCTGATCAGGGAAGCCAGACAGTAAAAGTGTCAGAGGCTCT TTA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0135 a0001c0001t0008g0135	1	422	0.0024	-52	c.212 others(69): Show c.212-4625_212-4574delCTTTAGGGCCCGACCTGATCAGGGAAGC CAGACAGTAAAAGTGTCAGAGGCT	SPATA33	ENSG00000167523.15	transcript	ENST00000579310.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPATA5_chr4_122918078_123324433	123323070	CACATATA others(45): Show CACATATATATACACACATATATATATACATATATATACACACATATATA TAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01123.hp1 HG01192.hp2 others(25): Show HG01106.hp2 HG01123.hp1 HG01192.hp2 HG02165.hp1 HG02280.hp1 HG02717.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG04228.hp2 NA18906.hp1 NA18940.hp1 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18982.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(15): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0052 a0001c0001t0075 a0001c0004t0031 a0001c0004t0032 a0002c0002t0017 a0002c0002t0033 a0002c0002t0053 a0002c0002t0071 a0003c0003t0022 a0003c0003t0055	a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0008g0017 others(25): Show a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0008g0017 a0001c0001t0008g0091 a0001c0001t0008g0092 a0001c0001t0009g0093 a0001c0001t0009g0094 a0001c0001t0009g0095 a0001c0001t0012g0241 a0001c0001t0012g0244 a0001c0001t0012g0246 a0001c0001t0014g0122 a0001c0001t0014g0125 a0001c0001t0028g0025 a0001c0001t0029g0126 a0001c0001t0034g0262 a0001c0001t0052g0245 a0001c0001t0075g0260 a0001c0004t0031g0147 a0001c0004t0032g0146 a0002c0002t0017g0158 a0002c0002t0017g0165 a0002c0002t0033g0159 a0002c0002t0053g0156 a0002c0002t0071g0164 a0003c0003t0022g0009 a0003c0003t0022g0013 a0003c0003t0055g0012	28	262	0.1069	-52	c.90 others(63): Show c.9007_*9058delACATATATATACACACATATATATATACATATAT ATACACACATATATATAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding		3638		chr4	TogoVar
SPEF2_chr5_35612863_35819611	35751024	CGTATATA others(45): Show CGTATATATATACACATATGTATATATATATACGTATATATATGTATATA TAT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0224 a0004c0005t0001g0224	1	268	0.0037	-52	c.333 others(71): Show c.3331-2599_3331-2548delGTATATATATACACATATGTATATAT ATATACGTATATATATGTATATATAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36			chr5	TogoVar
SPON1_chr11_13957723_14273133	14160431	TTATATAT others(45): Show TTATATATATATTTATATATATATTTATATATATATATTTATATATATAT TTA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0088 a0001c0003t0001g0088	1	224	0.0045	-52	c.825 others(71): Show c.825+24878_825+24929delTATATATATTTATATATATATATTTA TATATATATTTATATATATATATTTA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14160446	TATATATA others(45): Show TATATATATTTATATATATATATTTATATATATATTTATATATATATATT TAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00642.hp2 others(26): Show HG00323.hp2 HG00408.hp2 HG00642.hp2 HG01109.hp1 HG01192.hp1 HG01496.hp2 HG02071.hp2 HG02135.hp2 HG02698.hp2 HG02886.hp2 HG03579.hp1 NA18612.hp1 NA18943.hp2 NA18954.hp2 NA18966.hp1 NA18982.hp2 NA18986.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19054.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19090.hp2 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0002t0013 a0001c0002t0017 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0002c0005t0001	a0001c0001t0001g0017 a0001c0001t0002g0004 a0001c0001t0002g0131 others(26): Show a0001c0001t0001g0017 a0001c0001t0002g0004 a0001c0001t0002g0131 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0004g0183 a0001c0001t0004g0200 a0001c0001t0004g0203 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0118 a0001c0002t0001g0149 a0001c0002t0001g0155 a0001c0002t0001g0174 a0001c0002t0003g0201 a0001c0002t0011g0148 a0001c0002t0013g0151 a0001c0002t0017g0185 a0001c0003t0001g0072 a0001c0003t0001g0085 a0001c0003t0002g0078 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0096 a0001c0004t0001g0102 a0001c0004t0001g0104 a0002c0005t0001g0046 a0002c0005t0001g0130	29	224	0.1295	-52	c.825 others(71): Show c.825+24887_825+24938delTTATATATATATATTTATATATATAT TTATATATATATATTTACATATATAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SSX4B_chrX_48397082_48416960	48410952	CTGAGAAG others(45): Show CTGAGAAGTGGGGATGATAGTCTGTCCTGGTTGATGCCATGGCTAACTGA CAG	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	180	0.0056	-52	c.70- others(64): Show c.70-140_70-89delCTGTCAGTTAGCCATGGCATCAACCAGGACAGA CTATCATCCCCACTTCTCA	SSX4B	ENSG00000269791.6	transcript	ENST00000595235.6	protein_coding	2/7			chrX	TogoVar
ST18_chr8_52105838_52414756	52263838	CTGGATTC others(45): Show CTGGATTCAAGCTATTCTCCTGCCGATCTTCACTCACTGCAACCTCTGCC TCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02145.hp1 others(18): Show HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03225.hp1 HG03471.hp2 HG03516.hp1 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0007 a0001c0001 a0002c0003 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0002c0003t0003 a0004c0007t0007	a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0039 others(18): Show a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0003g0021 a0001c0001t0003g0072 a0001c0001t0007g0008 a0001c0001t0007g0084 a0001c0001t0009g0043 a0001c0001t0010g0041 a0001c0001t0010g0067 a0001c0001t0011g0040 a0001c0001t0014g0079 a0001c0001t0015g0068 a0001c0001t0016g0083 a0001c0001t0017g0100 a0001c0001t0018g0037 a0001c0001t0019g0057 a0002c0003t0003g0022 a0002c0003t0003g0038 a0002c0003t0003g0102 a0004c0007t0007g0098	21	104	0.2019	-52	c.-46 others(73): Show c.-464-33813_-464-33762delAGAGGCAGAGGTTGCAGTGAGTGA AGATCGGCAGGAGAATAGCTTGAATCCA	ST18	ENSG00000147488.13	transcript	ENST00000689386.1	protein_coding	2/25			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133551512	CAGAAAGA others(45): Show CAGAAAGAAAGAAAGAGAAAGAAAGAGAAGGAAAGAAAGAAAGAAAGAAA GAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0056 a0001c0004t0003g0056	1	332	0.0030	-52	c.-58 others(71): Show c.-581-5638_-581-5587delTTCTTTCTTTCTTTCTTTCTTTCCTT CTCTTTCTTTCTCTTTCTTTCTTTCT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	1/9			chr8	TogoVar

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