Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGCGA others(297): Show GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGA GGGGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02738.hp2 NA19011.hp1 HG01934.hp2 HG02738.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0003t0019 a0001c0001t0001 a0001c0001t0005 a0001c0003t0019	a0001c0001t0001g0259 a0001c0001t0005g0268 a0001c0003t0019g0280 a0001c0001t0001g0259 a0001c0001t0005g0268 a0001c0003t0019g0280	3	370	0.0081	304	c.-30 others(323): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCCCCTCCCCTCGCTCGCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEPTIN6_chrX_119611945_119698168	119647958	T T	TTAATTTT others(297): Show TTAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG02897.hp1 others(1): Show HG02622.hp1 HG02818.hp2 HG02897.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0110 a0001c0001t0001g0182 a0001c0001t0002g0145 others(1): Show a0001c0001t0001g0110 a0001c0001t0001g0182 a0001c0001t0002g0145 a0001c0001t0002g0175	4	252	0.0159	304	c.690 others(321): Show c.690+1978_690+1979insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAATTA	SEPTIN6	ENSG00000125354.24	transcript	ENST00000394610.7	protein_coding	5/10			chrX	TogoVar
SERINC3_chr20_44492441_44527070	44525364	T T	TTTTTTTT others(297): Show TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	300	0.0033	304	c.-34 others(315): Show c.-3414_-3413insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	SERINC3	ENSG00000132824.14	transcript	ENST00000342374.5	protein_coding		3295		chr20	TogoVar
SGPL1_chr10_70810948_70886184	70845656	T T	TTACCTTC others(297): Show TTACCTTCTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTTGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGG CACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0224 a0002c0004t0004g0224	1	402	0.0025	304	c.193 others(321): Show c.193+1027_193+1028insTTTTTTTTTTTTTTGAGACGGAGTTTCG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGC TGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCTACCTTCTT	SGPL1	ENSG00000166224.18	transcript	ENST00000373202.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
SIGLEC5_chr19_51605960_51635401	51632164	C C	CAAAGACT others(297): Show CAAAGACTCTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG03139.hp1 others(3): Show HG01891.hp2 HG02486.hp1 HG03139.hp1 NA18906.hp1 NA19240.hp2 NA20129.hp1	a0001 a0006 a0016 a0001 a0006 a0016	a0001c0001 a0006c0011 a0016c0027 a0001c0001 a0006c0011 a0016c0027	a0001c0001t0001 a0006c0011t0001 a0016c0027t0001 a0001c0001t0001 a0006c0011t0001 a0016c0027t0001	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 others(3): Show a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0006c0011t0001g0047 a0016c0027t0001g0048	6	414	0.0145	304	c.-18 others(315): Show c.-1830_-1829insTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAAGAGAGTCTTT	SIGLEC5	ENSG00000268500.7	transcript	ENST00000683636.1	protein_coding		1764		chr19	TogoVar
SLC22A12_chr11_64586220_64607344	64596247	A A	AATGGATG others(297): Show AATGGATGGATGGATGGAATGGATGGATGGATGGGATGGATGGATGGATG GATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGTTT GATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGAATGGAATT GATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAATAGATG GAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGATGC ATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGG ATGGG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02129.hp1 HG02040.hp2 HG02129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0119 a0001c0003t0003g0121 a0001c0003t0003g0119 a0001c0003t0003g0121	2	390	0.0051	304	c.831 others(321): Show c.831-2252_831-2251insATGGATGGATGGATGGGATGGATGGATG GATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATG GTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGAATGG AATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAATA GATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGG ATGCATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGG ATGGATGGGATGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A12_chr11_64586220_64607344	64596249	T T	TGGATGGA others(297): Show TGGATGGATGGATGGAATGGATGGATGGATGGGATGGATGGATGGATGGA TGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGT TTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGAATGGAA TTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAATAGA TGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGAT GCATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGAT GGATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp1 others(45): Show HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00741.hp2 HG01123.hp2 HG01175.hp2 HG01346.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG02135.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02738.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp2 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18966.hp1 NA18971.hp2 NA18984.hp2 NA18990.hp1 NA18998.hp2 NA19002.hp1 NA19011.hp2 NA19064.hp1 NA19065.hp2 NA19070.hp2 NA19080.hp1 NA19089.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(38): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0145 a0001c0001t0001g0222 a0001c0003t0001g0027 a0001c0003t0001g0097 a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0003g0012 a0001c0003t0003g0025 a0001c0003t0003g0106 a0001c0003t0003g0139 a0001c0003t0003g0142 a0001c0005t0001g0141	48	390	0.1231	304	c.831 others(321): Show c.831-2252_831-2251insATGGATGGATGGATGGGATGGATGGATG GATGGATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATG GATGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGA ATGGAATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGG AATAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGG ATGGATGCATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGG ATGGATGGATGGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A12_chr11_64586220_64607344	64596253	T T	TGGATGGA others(297): Show TGGATGGATGGAATGGATGGATGGATGGATGGGATGGATGGATGGATGGA TGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGT TTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGAATGGAA TTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGCAATAGA TGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGAT GCATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGAT GGATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0241 a0001c0002t0002g0241	1	390	0.0026	304	c.831 others(321): Show c.831-2252_831-2251insATGGATGGATGGATGGATGGGATGGATG GATGGATGGATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATG GATGGATGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGG ATGAATGGAATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAG TTGCAATAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGA ATGGATGGATGCATGGATGGATGGATGGATGGAATGGATGGATGGATGGA ATGGATGGATGGATGGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(297): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03942.hp1 HG03098.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0022 a0001c0001t0019 a0001c0001t0022	a0001c0001t0019g0127 a0001c0001t0022g0019 a0001c0001t0019g0127 a0001c0001t0022g0019	2	182	0.0110	304	c.100 others(323): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC44A3_chr1_94815357_94900246	94877129	T T	TAAAAAAA others(297): Show TAAAAAAAAGGTCGGGGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01257.hp2 HG01168.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0219 a0001c0001t0001g0041 a0001c0001t0001g0219	2	360	0.0056	304	c.148 others(323): Show c.1482+9728_1482+9729insTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAGGTCGGGG	SLC44A3	ENSG00000143036.17	transcript	ENST00000271227.11	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(297): Show AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC TGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	373	0.0027	304	c.115 others(321): Show c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCTCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCT CCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC TCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCC CTCCCGGCCCCCCACCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(297): Show AGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	373	0.0027	304	c.115 others(321): Show c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCT CCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC CCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCC CTCCAGGCCCCCCACCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414500	G G	GGAAGGCA others(297): Show GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCT GGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCC TGGAGGGTCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGG GCAGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0135 a0001c0003t0009g0135	1	373	0.0027	304	c.115 others(321): Show c.1156+190_1156+191insTCTGCCCTGACCCTCCCGGCCCCCCACC CAGCGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCC CGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCT CCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTC CCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCC CTCCCGGCCCCCCACCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SNRNP70_chr19_49080451_49113604	49092919	T T	TTTGTTTT others(297): Show TTTGTTTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGG GTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCG CCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA20300.hp2 HG01192.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	2	366	0.0055	304	c.265 others(321): Show c.265+2412_265+2413insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCTTGTTTTGTTCTT	SNRNP70	ENSG00000104852.15	transcript	ENST00000598441.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(297): Show TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp2 HG01257.hp1 others(3): Show HG00733.hp1 HG01074.hp2 HG01257.hp1 HG02300.hp1 HG02300.hp2 HG02698.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0041 a0001c0003t0005g0084 a0001c0003t0005g0085 others(3): Show a0001c0003t0005g0041 a0001c0003t0005g0084 a0001c0003t0005g0085 a0001c0003t0005g0254 a0001c0003t0005g0255 a0001c0003t0005g0256	6	380	0.0158	304	c.-13 others(321): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCA AGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7387843	C C	CATGCACA others(297): Show CATGCACACACATACAGGTACACAGAGATACACACATATGCACACATGCA CACACACAGAGATATACAGAGACACATGTACACACATGCACACACATACA GGTACACGGAGATACATATGCACACGCATACAGGCACACAGAGATACACA CATGCACACGCACACACATACAGATACACAGATACACATGCACATACAGA TACACAGAGATACACATGTACACACATACAGGTATGCAGATACACATGCA CATATGCACACGTGCACACACGCACACACGTACAGATACACAGAGACACG TACAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02015.hp2 HG02040.hp2 others(13): Show HG00323.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02132.hp1 HG02148.hp1 HG02886.hp2 HG03017.hp1 HG03710.hp1 HG04115.hp2 HG06807.hp2 NA18962.hp1 NA18962.hp2 NA19066.hp1 NA19066.hp2 NA20752.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0029 a0002c0004 a0015c0023	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(13): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0011 a0001c0002t0047 a0001c0002t0065 a0001c0003t0001 a0001c0003t0002 a0001c0029t0074 a0002c0004t0002 a0002c0004t0014 a0002c0004t0056 a0015c0023t0008	a0001c0001t0002g0089 a0001c0001t0005g0130 a0001c0001t0006g0055 others(13): Show a0001c0001t0002g0089 a0001c0001t0005g0130 a0001c0001t0006g0055 a0001c0001t0007g0063 a0001c0001t0009g0014 a0001c0002t0001g0143 a0001c0002t0011g0112 a0001c0002t0047g0020 a0001c0002t0065g0004 a0001c0003t0001g0081 a0001c0003t0002g0073 a0001c0029t0074g0162 a0002c0004t0002g0013 a0002c0004t0014g0110 a0002c0004t0056g0134 a0015c0023t0008g0122	16	168	0.0952	304	c.481 others(321): Show c.481-8410_481-8409insTATGCACACATGCACACACACAGAGATA TACAGAGACACATGTACACACATGCACACACATACAGGTACACGGAGATA CATATGCACACGCATACAGGCACACAGAGATACACACATGCACACGCACA CACATACAGATACACAGATACACATGCACATACAGATACACAGAGATACA CATGTACACACATACAGGTATGCAGATACACATGCACATATGCACACGTG CACACACGCACACACGTACAGATACACAGAGACACGTACAGATGCACACA CATACAGGTACACAGAGATACACACA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7387843	C C	CATGCACA others(297): Show CATGCACACACATACAGGTACACAGAGATACACACATATGCACACATGCA CACACACAGAGATATACAGAGACACATGTACACACATGCACACACATACA GGTACACGGAGATACATATGCACACGCATACAGGCACACAGAGATACACA CATGCACACGCACACACATACAGATACACAGATACACATGCACATACAGA TACACAGAGATACACATGTACACACATACAGGTATGCAGATACACATGCA CATATGCACACGTGCACACATGCACACACGTACAGATACACAGAGACACG TACAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0077 a0001c0002t0006g0077	1	168	0.0060	304	c.481 others(321): Show c.481-8410_481-8409insTATGCACACATGCACACACACAGAGATA TACAGAGACACATGTACACACATGCACACACATACAGGTACACGGAGATA CATATGCACACGCATACAGGCACACAGAGATACACACATGCACACGCACA CACATACAGATACACAGATACACATGCACATACAGATACACAGAGATACA CATGTACACACATACAGGTATGCAGATACACATGCACATATGCACACGTG CACACATGCACACACGTACAGATACACAGAGACACGTACAGATGCACACA CATACAGGTACACAGAGATACACACA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724480	G G	GTGATGAT others(297): Show GTGATGATGGTGGTGGTGATGGTGGTGATAGGGTGGTGGTGATGGTGATA GTAGTGGTGGGAATGGATGGTGGTGGTGATGGTGATGGTGGTGGTGTTGG TGATGGTGGTGATAGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGGTG GTGATGGCAGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGAT GGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTGATAGTGTTGG TGGGAATGGATGGTGGTAGTAGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0020 a0001c0002t0047g0020	1	168	0.0060	304	c.261 others(321): Show c.2611+602_2611+603insATGGTGGTGGTGATGGTGGTGATAGGGT GGTGGTGATGGTGATAGTAGTGGTGGGAATGGATGGTGGTGGTGATGGTG ATGGTGGTGGTGTTGGTGATGGTGGTGATAGTGCTGGTGAGGATGGTGAT GGTGGTGATGGTGGTGGTGATGGCAGTGATGATGGTGGAGGTGATGGTGG TAGTTATGGTGATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATG GTGGTGATAGTGTTGGTGGGAATGGATGGTGGTAGTAGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGATGATG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORD_chr15_45018195_45082185	45072613	T T	TAAAGAAT others(297): Show TAAAGAATGGGAAGGCCGGGCGTGGCGGCTCATGCCTGTAATCCCAGCAC TTTGGGAAGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGAGCATC CTGGCTAACACGGTGACCCCTGTCTCTACTAAAAATACAAAAAATTAGCC AGGCATGGTGGTGGGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAGTGGTGTGAACCCAGGAGGCAGAGATTGCAGTGAGCGGAGATCGC ACCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCTGTCTCAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp2 HG01109.hp1 others(19): Show HG00639.hp2 HG01074.hp2 HG01109.hp1 HG01884.hp2 HG01891.hp2 HG02280.hp2 HG02622.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp2 NA18906.hp1 NA18957.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0006 others(1): Show a0001c0001 a0002c0002 a0004c0006 a0005c0012	a0001c0001t0038 a0001c0001t0042 a0002c0002t0002 others(5): Show a0001c0001t0038 a0001c0001t0042 a0002c0002t0002 a0002c0002t0023 a0002c0002t0037 a0002c0002t0043 a0004c0006t0002 a0005c0012t0002	a0001c0001t0038g0144 a0001c0001t0042g0249 a0002c0002t0002g0010 others(19): Show a0001c0001t0038g0144 a0001c0001t0042g0249 a0002c0002t0002g0010 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0116 a0002c0002t0002g0227 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0238 a0002c0002t0002g0255 a0002c0002t0002g0276 a0002c0002t0023g0273 a0002c0002t0037g0117 a0002c0002t0043g0223 a0004c0006t0002g0295 a0005c0012t0002g0103	22	308	0.0714	304	c.908 others(319): Show c.908+186_908+187insAGGCCGGGCGTGGCGGCTCATGCCTGTAAT CCCAGCACTTTGGGAAGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCG AGAGCATCCTGGCTAACACGGTGACCCCTGTCTCTACTAAAAATACAAAA AATTAGCCAGGCATGGTGGTGGGTGTCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAGTGGTGTGAACCCAGGAGGCAGAGATTGCAGTGAGCG GAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCTGTCT CAAAAAAAAAAAAAAAGAATGGGA	SORD	ENSG00000140263.15	transcript	ENST00000267814.14	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATAATGA others(297): Show CATAATGATATATAATATATATCATTATATAACATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0304 a0001c0004t0009g0304	1	356	0.0028	304	c.-11 others(325): Show c.-112+29099_-112+29100insTAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA7_chr14_88380657_88443460	88392867	G G	GCGATTAC others(297): Show GCGATTACACTTGTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0039 a0006c0005t0001g0039	1	364	0.0028	304	c.95- others(317): Show c.95-512_95-511insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCACGATTACACTTGTT	SPATA7	ENSG00000042317.17	transcript	ENST00000393545.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(297): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTACAGGCATCAGTCACTGTGCCTGGCTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCA GTTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00741.hp1 others(19): Show HG00140.hp2 HG00280.hp2 HG00741.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01516.hp2 HG01993.hp1 HG02083.hp2 HG02602.hp1 HG02698.hp1 HG02976.hp1 HG03041.hp2 HG03225.hp2 HG03471.hp2 HG03688.hp2 HG04184.hp1 HG04204.hp2 NA18939.hp1 NA18969.hp1 NA18971.hp2 NA19062.hp2	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0001 a0003c0005 a0015c0023 a0001c0001 a0003c0005 a0015c0023	a0001c0001t0001 a0003c0005t0001 a0015c0023t0001 a0001c0001t0001 a0003c0005t0001 a0015c0023t0001	a0001c0001t0001g0108 a0001c0001t0001g0124 a0001c0001t0001g0129 others(19): Show a0001c0001t0001g0108 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0144 a0001c0001t0001g0169 a0001c0001t0001g0215 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0302 a0001c0001t0001g0303 a0003c0005t0001g0296 a0003c0005t0001g0297 a0003c0005t0001g0298 a0003c0005t0001g0299 a0003c0005t0001g0300 a0003c0005t0001g0301 a0003c0005t0001g0309 a0003c0005t0001g0310 a0003c0005t0001g0311 a0003c0005t0001g0312 a0015c0023t0001g0055	22	356	0.0618	304	c.245 others(321): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGTCACTGTGCCTGG CTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCC AAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(297): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCA GTTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02040.hp2 HG02818.hp2 others(2): Show HG00438.hp2 HG02040.hp2 HG02818.hp2 NA18943.hp1 NA19062.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0025 a0001c0001 a0002c0002 a0009c0025	a0001c0001t0003 a0002c0002t0002 a0002c0002t0014 others(1): Show a0001c0001t0003 a0002c0002t0002 a0002c0002t0014 a0009c0025t0002	a0001c0001t0003g0323 a0002c0002t0002g0045 a0002c0002t0002g0047 others(2): Show a0001c0001t0003g0323 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0014g0044 a0009c0025t0002g0039	5	356	0.0140	304	c.245 others(321): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGG CTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCC AAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(297): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0135 a0007c0008t0001g0135	1	260	0.0039	304	c.138 others(323): Show c.1384-5708_1384-5707insCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCK3_chr4_166728384_167239494	167108995	T T	TATATAAA others(297): Show TATATAAATATATATTTATATAAAAATATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATAAAAATATATATAAATATATATT TATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAATA TATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAAAATATATATAAATATATATTTATA TAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	144	0.0069	304	c.190 others(323): Show c.190-46459_190-46458insTTTTATATAAATATATATTTATATAT ATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATATTT ATATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATAT ATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATAT AAATATATATTTATATATATTTTTATATAAATATATATTTATATATATTT TTATATAAATATATATTTATATATATTTTTATATAAATATATATTTATAT ATATTTTTATATAAATATATATTTATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPPL2B_chr19_2323684_2360095	2349338	C C	CTCTCTCC others(297): Show CTCTCTCCACACACACGCACTCTTATTCGCCTGATTCCGTTCTCTCTCTC TCCACACACTCACGCACTCTTATTCGCCTGATTCCGTTCTCTCTCTCCAC ACACACTCACGCGCTCTCATTCGCTTGATTCCGTTCTCTCCCTCCACACA ACACTCGCGTTCTCATTCGCGTGATTCCGTTCTCTCTCCACACACACTCA CGCGCTCTCATTCGCTCGATTCCGTTCTCTCTCCACACGCGCTCTCATTC GCTCGATTCCGTTCTCTCCACACACACTCACGCGCTGTCATTCGCTTGAT TCCGT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0086 a0001c0009t0005g0086	1	414	0.0024	304	c.135 others(323): Show c.1355-2090_1355-2089insCACACACACGCACTCTTATTCGCCTG ATTCCGTTCTCTCTCTCTCCACACACTCACGCACTCTTATTCGCCTGATT CCGTTCTCTCTCTCCACACACACTCACGCGCTCTCATTCGCTTGATTCCG TTCTCTCCCTCCACACAACACTCGCGTTCTCATTCGCGTGATTCCGTTCT CTCTCCACACACACTCACGCGCTCTCATTCGCTCGATTCCGTTCTCTCTC CACACGCGCTCTCATTCGCTCGATTCCGTTCTCTCCACACACACTCACGC GCTGTCATTCGCTTGATTCCGTTCTCTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTSSA_chr14_34427788_34467240	34443205	G G	GTGTGTGT others(297): Show GTGTGTGTGTGTGTGTGTGTTTTGAGATGGAGTTTTCCTCTCATTACCCA GCTGGAGTGCAATGGCACAGTCTTAGCTCACTGCAACCTCTGCCTCCCAG GTTCAAGCGATTCTCCTGCTTCTAGGGGAGGGTGTGAGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGATGG AGTTTTCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCA CTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAG GGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0106 a0001c0001t0006g0106	1	344	0.0029	304	c.113 others(321): Show c.113-7902_113-7901insACACCCTCCCCTAGAAGCAGGAGAATCG CTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTAAGACTGTGCCATTGCA CTCCAGCTGGGTAATGAGAGGAAAACTCCATCTCAAACACACACACACAC ACACACACACACACACACACACACACACACACACACACACTCACACCCTC CCCTAGAAGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGA GCTAAGACTGTGCCATTGCACTCCAGCTGGGTAATGAGAGGAAAACTCCA TCTCAAAACACACACACACACACACA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(297): Show GCCACACACATATTCTTTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGC	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18963.hp2 HG02132.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0262 a0001c0001t0003g0263	2	396	0.0051	304	c.485 others(319): Show c.485+522_485+523insATTCTTTGTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCCACACACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(297): Show GCCACACACATATTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp2 HG02897.hp1 others(1): Show HG02723.hp1 HG02886.hp2 HG02897.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 others(1): Show a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0256	4	396	0.0101	304	c.485 others(319): Show c.485+522_485+523insATTCTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCCACACACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SS18_chr18_26011253_26095613	26081730	A A	AACAGTTT others(297): Show AACAGTTTACTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGTTCACTGCAAGCTCCGCCTCCCGG GTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGG TCTCACCGTTTTAGCTGGGATGGTCTCGATCTCTTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG01243.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0014 a0001c0004t0005g0015 a0001c0004t0005g0014 a0001c0004t0005g0015	2	318	0.0063	304	c.147 others(321): Show c.147-3571_147-3570insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATC GAGACCATCCCAGCTAAAACGGTGAGACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGA ACCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAGAGTAAACTGT	SS18	ENSG00000141380.14	transcript	ENST00000415083.7	protein_coding	2/10			chr18	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(297): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGCGCATATATACGCATATA TGTGTGTATATGCGCATATATACGCATATATGTGTGTATATGCGCATATA TACGCATATATGTGTGTATATGCGCATATATACGCATATATGTGTGTATA TGCGCATATATACGCATATATGTGTGTATATGCGCATATATACGCATATA TGTGTGTATATGCGCATATATACGCATATATGTGTGTATATGCGCATATA TACGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	188	0.0053	304	c.152 others(323): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGCGCATATATACGCATATATGTGTGTATATGCGCATATATACGCAT ATATGTGTGTATATGCGCATATATACGCATATATGTGTGTATATGCGCAT ATATACGCATATATGTGTGTATATGCGCATATATACGCATATATGTGTGT ATATGCGCATATATACGCATATATGTGTGTATATGCGCATATATACGCAT ATATGTGTGTATATGCGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(297): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGCGCATATATACGCATATA TGTGTGTATATGCGCATATATACGCATATATGTGTGTATATGCGCATATA TACGCATATATGTGTGTATATGCGCATATATACGCATATATGTGTGTATA TGCGCATATATACGCATATATGTGTGTATATGCGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	188	0.0053	304	c.152 others(323): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGCGCATATATACGCATATATGTGTGTATATGCGCATATATACGCAT ATATGTGTGTATATGCGCATATATACGCATATATGTGTGTATATGCGCAT ATATACGCATATATGTGTGTATATGCGCATATATACGCATATATGTGTGT ATATGCGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(297): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGAGTATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGC	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18998.hp2 HG01934.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0174 a0001c0001t0001g0154 a0001c0001t0001g0174	2	188	0.0106	304	c.152 others(323): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGAGTATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(297): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATA TGTGCATATACACGCATATATGTGAGTATATGTGCATATACACGCATATA TGTGTGTATATGTGCATATACACGCATATATGTGTGTATATGTGCATATA TACGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	188	0.0053	304	c.152 others(323): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATACACGCATATATGTGAGT ATATGTGCATATACACGCATATATGTGTGTATATGTGCATATACACGCAT ATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(297): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATA TGTGCATATATACGCATATATGTGAGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGC	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA19012.hp2 HG02004.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0147 a0001c0001t0001g0152	2	188	0.0106	304	c.152 others(323): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGAGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(297): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	188	0.0053	304	c.152 others(323): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(297): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03139.hp2 NA19240.hp2 HG02970.hp2 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0002t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0002t0001g0044	3	188	0.0160	304	c.152 others(323): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
STK38L_chr12_27239286_27330959	27241562	T T	TTATATAT others(297): Show TTATATATATTACATATATGACTCTGTGTAGTTATATATATTACATATAT GACTCTGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATA TTACATATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTA GTTATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATG ACTCTGTGTAGTTATATATTACATATATGACTATGTATAGTTATATATAT TACATATATGACTATGTATAGTTATATATATTACATATATGACTATGTAT AGTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	374	0.0027	304	c.-27 others(315): Show c.-2782_-2781insTATATATATTACATATATGACTCTGTGTAGTTAT ATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGACT CTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATATTACAT ATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATA TATATTACATATATGACTCTGTGTAGTTATATATTACATATATGACTATG TATAGTTATATATATTACATATATGACTATGTATAGTTATATATATTACA TATATGACTATGTATAGTTA	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2723		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241562	T T	TTATATAT others(297): Show TTATATATATTACATATATGACTCTGTGTAGTTATATATATTACATATAT GACTCTGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATA TTACATATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTA GTTATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATG ACTCTGTGTAGTTATATATTACATATATGACTATGTGTAGTTATATATAT TACATATATGACTATGTATAGTTATATATATTACATATATGACTATGTAT AGTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01255.hp1 HG01993.hp1 HG00639.hp1 HG01255.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034	3	374	0.0080	304	c.-27 others(315): Show c.-2782_-2781insTATATATATTACATATATGACTCTGTGTAGTTAT ATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGACT CTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATATTACAT ATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATA TATATTACATATATGACTCTGTGTAGTTATATATTACATATATGACTATG TGTAGTTATATATATTACATATATGACTATGTATAGTTATATATATTACA TATATGACTATGTATAGTTA	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2723		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241562	T T	TTATATAT others(297): Show TTATATATATTACATATATGACTCTGTGTAGTTATATATATTACATATAT GACTCTGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATA TTACATATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTA GTTATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATG ACTCTGTGTAGTTATATATTACATATATGACTATGTGTAGTTATATATAT TACATATATGACTATGTGTAGTTATATATATTACATATATGACTATGTAT AGTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	374	0.0027	304	c.-27 others(315): Show c.-2782_-2781insTATATATATTACATATATGACTCTGTGTAGTTAT ATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGACT CTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATATTACAT ATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATA TATATTACATATATGACTCTGTGTAGTTATATATTACATATATGACTATG TGTAGTTATATATATTACATATATGACTATGTGTAGTTATATATATTACA TATATGACTATGTATAGTTA	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2723		chr12	TogoVar
SUZ12_chr17_31932007_32006038	31957709	C C	CCAGTTTT others(297): Show CCAGTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCCGGACTGCAGTG GCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACAGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAAC CAAGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0016	1	280	0.0036	304	c.456 others(321): Show c.456-8422_456-8421insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCCGGACTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCAC AGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAACCAAGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTCAGTTTTTGTATTTTT	SUZ12	ENSG00000178691.11	transcript	ENST00000322652.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
SVEP1_chr9_110360248_110584741	110390312	T T	TATATATA others(297): Show TATATATACTTATATATATACTTATATAAGTATATATATACTTATATATA TACTTATATAAGTATATATATACTTATATATATACTTATATAAGTATATA TATACTTATATATATACTTATATAAGTATATATATACTTATATATATACT TATATAAGTATATATATAAGTATATATATACTTATATATATACTTATATA AGTATATATATACTTATATATATACTTATATAAGTATATATATACTTATA TAAGTATATATATACTTATATATATACTTATATAAGTATATATATACTTA TATAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18906.hp1 HG03453.hp1 NA18906.hp1	a0034 a0034	a0034c0031 a0034c0031	a0034c0031t0004 a0034c0031t0004	a0034c0031t0004g0208 a0034c0031t0004g0209 a0034c0031t0004g0208 a0034c0031t0004g0209	2	362	0.0055	304	c.982 others(321): Show c.9823-726_9823-725insTTATATAAGTATATATATACTTATATAA GTATATATATAAGTATATATATACTTATATAAGTATATATATACTTATAT AAGTATATATATAAGTATATATATACTTATATAAGTATATATATAAGTAT ATATATACTTATATATATACTTATATAAGTATATATATAAGTATATATAT ACTTATATAAGTATATATATAAGTATATATATACTTATATAAGTATATAT ATAAGTATATATATACTTATATAAGTATATATATAAGTATATATATACTT ATATAAGTATATATATAAGTATATAT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(297): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTC CCCCCCTCCCCTCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTTC CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCC CCCCT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	268	0.0037	304	c.186 others(321): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCTCTCCC TTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCG TCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(297): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTC CCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTTC CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCC CCCCT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	268	0.0037	304	c.186 others(321): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCC TTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCG TCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(297): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTCC CCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTTC CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCC CCCCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	268	0.0037	304	c.186 others(321): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCC CTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCC TTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCG TCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF12_chr15_56913644_57294853	57075835	T T	TTTTCTTT others(297): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	330	0.0030	304	c.222 others(323): Show c.222+12040_222+12041insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTC	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF3_chr19_1604292_1657615	1627878	G G	GGGGGTGA others(297): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGG AAGGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAA CTCAC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0022 a0001c0005t0009g0022	1	352	0.0028	304	c.299 others(319): Show c.299-453_299-452insGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTG CTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628699	A A	ACGGGGGT others(297): Show ACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCATGGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCGCAGGGGGTGAGG CGGAAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCA GAGCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG00642.hp2 HG01070.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0016 a0002c0001t0016	a0002c0001t0016g0052 a0002c0001t0016g0269 a0002c0001t0016g0052 a0002c0001t0016g0269	2	352	0.0057	304	c.299 others(321): Show c.299-1274_299-1273insAGCTCTGCTGTCCCCTTCCCGCCCCACC CCCGTGAGCTCTGCTGTCCCCTTTCCGCCTCACCCCCTGCGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCATGAGCTCTG CTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCT GCTGTCCCCTTCCCGCCTCACCCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628972	G G	GGGGGTGA others(297): Show GGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTC ACGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACAGGGGTGGGGCGGG AAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAGC TCACGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCG GGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAG CTCAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	352	0.0028	304	c.299 others(321): Show c.299-1547_299-1546insGTGAGCTCTGCTGTCCCCTTCCCACCTC ACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGC TGTCCCCTTCCCACCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCC CATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCTGTGAGCTCT GCTGTCCCCTTCCCACCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCAC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTT CTGCTGTCCCTTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629046	A A	AGGCGGGA others(297): Show AGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACA GCAGAGCTCACGGGGTGGGGCGGGAAGGGGACAGTAGAGCTCACAGAGGG TGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGA CAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG TGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGGGGCGGGAAGGGGAC AGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGG GGTGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	1	352	0.0028	304	c.299 others(321): Show c.299-1621_299-1620insCCACCCCCGTGAGCTCTGCTGTCCCCTT CCCGCCCCACCCTCTGTGAGCTCTACTGTCCCCTTCCCGCCCCACCCCGT GAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCC CTTCCCGCCCCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCC GTGAGCTCTGCTGTCCCCTTCCCGCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar

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Search Results (Total: 10000 hits)