Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SERINC2_chr1_31408213_31439678	31432012	T T	TAGGGTGG others(353): Show TAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGATAGGG TGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTG GTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0171 a0001c0004t0010g0171	1	376	0.0027	360	c.101 others(377): Show c.1014-947_1014-946insTAGGGTGGTTAGGGTGGATAGGGTGGAG AGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGACAGGGTGGACAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432147	C C	CAGGGTGG others(353): Show CAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGG TGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGACA GGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTG GAGAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAG GGTGGACAGGGTGGACAGGGTGGAGAGAGTGGACAGGGTGGAGAGGGTGG ATAGGGTGGAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0042 a0001c0005t0002g0042	1	376	0.0027	360	c.101 others(377): Show c.1014-812_1014-811insTAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGT GGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTG GATAGGGTGGACAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAG GGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAGAGAGTGGACAGG GTGGAGAGGGTGGATAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432164	A A	ATAGGGTG others(353): Show ATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGT GGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTG GATAGGATGGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0034 a0001c0001t0007g0034	1	376	0.0027	360	c.101 others(377): Show c.1014-785_1014-784insCAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGG GTGGATAGGATGGTTAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERPINF2_chr17_1737871_1760265	1739628	A A	AGCCTGAT others(353): Show AGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGC GGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAGGCAGCCTGATGCAGGGAGTGAG GCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCACA GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACA GTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02647.hp1 HG02965.hp1 others(4): Show HG02622.hp1 HG02647.hp1 HG02965.hp1 HG03225.hp1 HG03471.hp1 NA19030.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0086 a0002c0002t0001g0090 others(1): Show a0002c0002t0001g0014 a0002c0002t0001g0086 a0002c0002t0001g0090 a0002c0002t0001g0092	7	445	0.0157	360	c.-32 others(371): Show c.-3285_-3284insGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGG GAGGCGGCCTGATGCGGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3242		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739628	A A	AGCCTGAT others(353): Show AGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGC GGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAGGCAGCCTGATGCAGGGAGTGAG GCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCA GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACA GTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00597.hp1 others(51): Show HG00099.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp2 HG00738.hp2 HG01099.hp2 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01934.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02148.hp1 HG02155.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02818.hp2 HG02896.hp2 HG03017.hp1 HG03486.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18951.hp1 NA18956.hp1 NA18970.hp1 NA18971.hp2 NA18981.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA19009.hp1 NA19064.hp2 NA19066.hp1 NA19079.hp1 NA19081.hp2 NA20905.hp1	a0002 a0004 a0010 a0002 a0004 a0010	a0002c0002 a0004c0004 a0010c0013 a0002c0002 a0004c0004 a0010c0013	a0002c0002t0001 a0002c0002t0004 a0004c0004t0002 others(4): Show a0002c0002t0001 a0002c0002t0004 a0004c0004t0002 a0004c0004t0003 a0004c0004t0004 a0004c0004t0011 a0010c0013t0001	a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0014 others(32): Show a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0014 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0025 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0095 a0002c0002t0004g0009 a0002c0002t0004g0020 a0002c0002t0004g0059 a0002c0002t0004g0062 a0002c0002t0004g0071 a0004c0004t0002g0084 a0004c0004t0003g0004 a0004c0004t0003g0037 a0004c0004t0003g0080 a0004c0004t0004g0069 a0004c0004t0011g0018 a0010c0013t0001g0009	54	445	0.1214	360	c.-32 others(371): Show c.-3285_-3284insGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGG GAGGCGGCCTGATGCGGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3242		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739628	A A	AGCCTGAT others(353): Show AGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGC GGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAGGCAGCCTGATGCAGGGAGTGAG GCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCA GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACA GTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	445	0.0023	360	c.-32 others(371): Show c.-3285_-3284insGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGG GAGGCGGCCTGATGCGGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3242		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739628	A A	AGCCTGAT others(353): Show AGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGC GGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAGGCAGCCTGATGCAGGGAGTGAG GTGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCA GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACA GTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	445	0.0023	360	c.-32 others(371): Show c.-3285_-3284insGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGG GAGGCGGCCTGATGCGGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCAGCCT GATGCAGGGAGTGAGGTGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3242		chr17	TogoVar
SH3YL1_chr2_213144_269032	214433	C C	CCTGCCAA others(353): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTG CCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCTTCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAA CAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAACA GGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAACAGG CACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCTTCTGCCAACAGGCA CCGGGCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	360	0.0028	360	c.43 others(371): Show c.4377_*4378insAAGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCG GTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGT GCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGC CTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCGGTGTCTGT TGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTC GCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGC AGGGGCAGCCCGGTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3710		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(353): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGACACCGGGCTGCTTCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAACA GGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGA CACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCTTCTGCCAACAGGCA CCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	360	0.0028	360	c.43 others(371): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCG GTGCCTGTTGGCAGAGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCT GTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAGAAGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGTTG GCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGC AGGGGCAGCCCGGTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(353): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGACACCGGGCTGCTTCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAACA GGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGA CACCGGGCTGCTTCTGCCAACAGGCACCGGGCTGCTTCTGCCAACAGGCA CCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	360	0.0028	360	c.43 others(371): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCG GTGCCTGTTGGCAGAAGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCT GTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAGAAGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGTTG GCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGC AGGGGCAGCCCGGTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(353): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGGCACCGGGCTGCTTCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAACA GGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGA CACCGGGCTGCTTCTGCCAACAGGCACCGGGCTGCTTCTGCCAACAGGCA CCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02965.hp2 HG02818.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0068 a0001c0001t0001g0021 a0001c0001t0001g0068	2	360	0.0056	360	c.43 others(371): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCG GTGCCTGTTGGCAGAAGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCT GTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAGAAGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTG GCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGC AGGGGCAGCCCGGTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(353): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGGCACCGGGCTGCTTCTGCCAACAGGCACCGGGCTGCCCCTGCG AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAACA GGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGA CACCGGGCTGCTTCTGCCAACAGGCACCGGGCTGCTTCTGCCAACAGGCA CCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	360	0.0028	360	c.43 others(371): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCG GTGCCTGTTGGCAGAAGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCT GTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGT TGGCAGAAGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTG GCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGC AGGGGCAGCCCGGTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SHISA5_chr3_48462876_48509174	48486239	C C	CATATATT others(353): Show CATATATTATATACTATATATATATTATATATATTATATATTATATACTA TATATATTATATATACTATAGTATATATTATATAATATATATAATATAGT ATATATTATATAATATATATAATATAGTATATATTATATAATATATATAA TATAGTATATATTATATAATATATAATATAGTATATATTATATAATATAT ACTATATTATATATAGTATATAATACATTATATGTTATATAACATATAAT GTATTATATATAATATATAATACATTATATGTTATATAACATATAATGTA TTATATATTATATGTTATATAATATATAATACATTATATGTTATATAACA TATAATGTATT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02257.hp1 HG02451.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063	3	290	0.0103	360	c.234 others(377): Show c.234-6983_234-6982insAATACATTATATGTTATATAACATATAA TGTATTATATATTATATAACATATAATATATAATACATTATATGTTATAT AACATATAATGTATTATATATTATATATAATACATTATATGTTATATAAC ATATAATGTATTATATACTATATATAATATAGTATATATTATATAATATA TACTATATTATATATTATATAATATATACTATATTATATATATTATATAA TATATACTATATTATATATATTATATAATATATACTATATTATATATATT ATATAATATATACTATAGTATATATAATATATATAGTATATAATATATAA TATATATAATATATATATAGTATATAATATAT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(353): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01943.hp1 HG02155.hp2 others(2): Show HG00741.hp2 HG01943.hp1 HG02155.hp2 HG02615.hp2 NA19065.hp1	a0001 a0001	a0001c0075 a0001c0127 a0001c0128 others(2): Show a0001c0075 a0001c0127 a0001c0128 a0001c0201 a0001c0275	a0001c0075t0036 a0001c0127t0003 a0001c0128t0003 others(2): Show a0001c0075t0036 a0001c0127t0003 a0001c0128t0003 a0001c0201t0094 a0001c0275t0001	a0001c0075t0036g0013 a0001c0127t0003g0085 a0001c0128t0003g0086 others(2): Show a0001c0075t0036g0013 a0001c0127t0003g0085 a0001c0128t0003g0086 a0001c0201t0094g0311 a0001c0275t0001g0285	5	380	0.0132	360	c.-32 others(377): Show c.-32-1637_-32-1636insGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(353): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATGAAA AAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0107 a0001c0003t0001g0107	1	256	0.0039	360	c.165 others(377): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATGAAAAAAGAAAAGAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHTN1_chr10_116876477_117010187	116987501	C C	CAAAAAAA others(353): Show CAAAAAAAGACAAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0085 a0001c0001t0006g0085	1	292	0.0034	360	c.59- others(375): Show c.59-8194_59-8193insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTCCTTGTCTTTTTTT	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	1/16			chr10	TogoVar
SIGIRR_chr11_400716_419999	401882	C C	CGCTCACC others(353): Show CGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGACCCGCT CACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCC CCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGAC CCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCGACCC GCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCCGGGCCCCGCT CACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACA CCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGG CCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	242	0.0041	360	c.40 others(371): Show c.4013_*4014insTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGTG AGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCG GGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGGTGAGCGGG TCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGG GTGTGAGCGGGGTCCGGTGTGAGCGGGGTCCGGGGTGAGCGGGTCGGGGG TGAGCGGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGC GGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGC CCGGGGTGAGCGGGTCGGGGGTGAGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3833		chr11	TogoVar
SIGIRR_chr11_400716_419999	401882	C C	CGCTCACC others(353): Show CGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGACCCGCT CACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCC CAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGA CCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTC ACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACA CCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGG CCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	242	0.0041	360	c.40 others(371): Show c.4013_*4014insTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGTG AGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCG GGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGG CCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGG TGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGGTGTGAGCGGGGTCCGGGG TGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTGAGCGGGTCGGGGGTGAGC GGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGC GGGTGTGAGCGGGGCCCGGGGTGAGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3833		chr11	TogoVar
SIGIRR_chr11_400716_419999	402469	C C	CCCCCGGC others(353): Show CCCCCGGCCCCGCTCACCCCCGACCCACTCACACCCGGCCCCGCTCACCC CCGCCCCGCTCACCCCCGACCCGCTCACACCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCG CTCACCCCGGCCCCGCTCACCCCAGCCCCGCTCACACCCGCCCCGCTCAC CCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCC CGGCCCCGCTCACCCCGACCCCGCTCACCCCGGACCCCCGGCCCCGCTCA CCCCCGACCCCCGACCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCG CTGACCCCCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02132.hp2 others(1): Show HG01069.hp2 HG01071.hp2 HG02132.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0096 a0001c0001t0001g0097 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098	4	242	0.0165	360	c.34 others(371): Show c.3426_*3427insTCGGGGGTCAGCGGGGCCGGGGGTGAGCGGGGCG GGTGTGAGCGGGGTCGGGGGTCGGGGGTGAGCGGGGCCGGGGGTCCGGGG TGAGCGGGGTCGGGGTGAGCGGGGCCGGGGGTGAGCGGGGTCCGGGGTGA GCGGGGCGGGTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGTGAGCGG GGCTGGGGTGAGCGGGGCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGTCC GGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGTG TGAGCGGGTCGGGGGTGAGCGGGGCGGGGGTGAGCGGGGCCGGGTGTGAG TGGGTCGGGGGTGAGCGGGGCCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3246		chr11	TogoVar
SIGIRR_chr11_400716_419999	412565	G G	GCGGGGGG others(353): Show GCGGGGGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGG GTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGTGCCCAGCT CTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTG GATACAGTCGGGGGGGGTTGCCCAGCTCTGACCATGTCTGGATGCAGTCG GCGGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGAGGGGGG TGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGA CCATGTCTGGATACAGTCGGGCGGGGGGGGTGCTCAGCTCTGACCATGTC TGGATGCAGTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	242	0.0041	360	c.-15 others(379): Show c.-154+2257_-154+2258insGACTGCATCCAGACATGGTCAGAGCT GAGCACCCCCCCCGCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACC CCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACT GCATTCAGACATGGTCAGAGCTGGGCACCCCCCGCCGACTGCATCCAGAC ATGGTCAGAGCTGGGCAACCCCCCCCGACTGTATCCAGACATGGTCAGAG CTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCTC CCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCGACTGC ATCCAGACATGGTCAGAGCTGAGCACCCCCCCCG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(353): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGCGGCAGGGGGGAGGCGGG GGGGCGGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGG GGCGGGAGGGGGAGGAGTCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGG AGGGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGA GGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGG GGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0112 a0001c0001t0022g0112	1	222	0.0045	360	c.914 others(379): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCCCTCCCGCCCCCCCGCCT CCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCC CGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCC CCCCTCCCGCCCCCCCGACTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCC CCCTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTG CCGCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(353): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTATTTATTTTATT TTATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCAC AGGCGCCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	410	0.0024	360	c.-26 others(379): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTATTT ATTTTATTTTATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACCACAGGCGCCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC25A21_chr14_36672921_37177606	36810878	A A	AAGAAAAG others(353): Show AAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGG GGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGC ATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAA AGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAAT AATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGA TAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTG GGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCA GCATATGATAG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19007.hp2 NA18941.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0050 a0001c0001t0004g0051	2	164	0.0122	360	c.203 others(377): Show c.203+3039_203+3040insCTATCATATGCTGAATTATTTCCCCCAC TCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCA TATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATT TCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTT CTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCT GAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCC ACTCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTAT CATATGCTGAATTATTTCCCCCACTCTTTTCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC35F1_chr6_117902264_118322671	117924143	A A	ATATATAC others(353): Show ATATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp2 HG01106.hp1 others(1): Show HG00735.hp1 HG01074.hp2 HG01106.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0050 others(1): Show a0001c0001t0004 a0001c0001t0026 a0001c0001t0050 a0001c0001t0066	a0001c0001t0004g0084 a0001c0001t0026g0100 a0001c0001t0050g0094 others(1): Show a0001c0001t0004g0084 a0001c0001t0026g0100 a0001c0001t0050g0094 a0001c0001t0066g0083	4	182	0.0220	360	c.173 others(379): Show c.173+16520_173+16521insCACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AATATAAA others(353): Show AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATACATAAATATAAATATATTATATATATTATACATAAATATAAATAT ATTATATATATTATATATAATATAAATATATTATATATATTATATATAAA TATAAATATATTATATATTATATAAATATAAATATATTATATATTATATA AATATAAATATATTATATATTATATATAAATATAAATATATTATATATTA TATATAATATAAATATATTATATATATTATATATAATATAAATATATTAA TATATTATATATAATATAAATATATTATATATAATATAAATATATTATAT ATATTATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01099.hp1 HG01070.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0296 a0002c0002t0001g0334 a0002c0002t0001g0296 a0002c0002t0001g0334	2	346	0.0058	360	c.-70 others(377): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TATATATAATATATTTATATTATATATAATATATTAATATATTTATATTA TATATAATATATATAATATATTTATATTATATATAATATATAATATATTT ATATTTATATATAATATATAATATATTTATATTTATATAATATATAATAT ATTTATATTTATATAATATATAATATATTTATATTTATATATAATATATA TAATATATTTATATTATATATAATATATATAATATATTTATATTTATGTA TAATATATATAATATATTTATATTTATGTATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATAT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCTATC others(353): Show CATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATC CATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATCCA TCCATCCATCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0379 a0002c0005t0001g0379	1	420	0.0024	360	c.107 others(377): Show c.1075+214_1075+215insAGATGGATGGATGGATGGATAGATGGAT AGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGAT AGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATAGATGGATGGATAGATGGATGGATAGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A13_chr12_215622_267836	239098	G G	GTGGGGTG others(353): Show GTGGGGTGTGTTGGATCCATTCCCACACCATTCCCCTCAGCCACATGCTC TACCACGTCCACCCTGTTCCCTGCCCCTTCAGCCACCTGCTCTACCACGT CCACCCTGTTCCCTGCACACGTGGGGTGTGTTGGATCCATTCCCACACCA TTCCCCTCAGCCACATGCTCTACCACGTCCACCCTGTTCCCTGCCCCTTC AGCCACCTGCTCTACCACGTCCACCCTGTTCCCTGCACACGTGGGGTGTG TTGGATCCATTCCCACACCATTTCCCTCAGCCACATGCTCTACCACGTCC ACCCTGTTCCCTGCCCCTTCAGCCACGTGCTCTACCACGTCCACCCTGTT CCCTGCACACA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	442	0.0023	360	c.479 others(377): Show c.479-1089_479-1088insTGTGTGCAGGGAACAGGGTGGACGTGGT AGAGCACGTGGCTGAAGGGGCAGGGAACAGGGTGGACGTGGTAGAGCATG TGGCTGAGGGAAATGGTGTGGGAATGGATCCAACACACCCCACGTGTGCA GGGAACAGGGTGGACGTGGTAGAGCAGGTGGCTGAAGGGGCAGGGAACAG GGTGGACGTGGTAGAGCATGTGGCTGAGGGGAATGGTGTGGGAATGGATC CAACACACCCCACGTGTGCAGGGAACAGGGTGGACGTGGTAGAGCAGGTG GCTGAAGGGGCAGGGAACAGGGTGGACGTGGTAGAGCATGTGGCTGAGGG GAATGGTGTGGGAATGGATCCAACACACCCCA	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	4/14			chr12	TogoVar
SLC6A13_chr12_215622_267836	239098	G G	GTGGGGTG others(353): Show GTGGGGTGTGTTGGATCCATTCCCACACCATTCCCCTCAGCCACATGCTC TACCACGTCCACCCTGTTCCCTGCCCCTTCAGCCACCTGCTCTACCACGT CCACCCTGTTCCCTGCACACGTGGGGTGTGTTGGATCCATTCCCACACCA TTTCCCTCAGCCACATGCTCTACCACGTCCACCCTGTTCCCTGCCCCTTC AGCCACGTGCTCTACCACGTCCACCCTGTTCCCTGCACACATGGGGTGTG TTGGATCCATTCCCACACCATTTCCCTCAGCCACATGCTCTACCACGTCC ACCCTGTTCCCTGCCCCTTCAGCCACGTGCTCTACCACGTCCACCCTGTT CCCTGCACACA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	442	0.0023	360	c.479 others(377): Show c.479-1089_479-1088insTGTGTGCAGGGAACAGGGTGGACGTGGT AGAGCACGTGGCTGAAGGGGCAGGGAACAGGGTGGACGTGGTAGAGCATG TGGCTGAGGGAAATGGTGTGGGAATGGATCCAACACACCCCATGTGTGCA GGGAACAGGGTGGACGTGGTAGAGCACGTGGCTGAAGGGGCAGGGAACAG GGTGGACGTGGTAGAGCATGTGGCTGAGGGAAATGGTGTGGGAATGGATC CAACACACCCCACGTGTGCAGGGAACAGGGTGGACGTGGTAGAGCAGGTG GCTGAAGGGGCAGGGAACAGGGTGGACGTGGTAGAGCATGTGGCTGAGGG GAATGGTGTGGGAATGGATCCAACACACCCCA	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	4/14			chr12	TogoVar
SLCO1B1_chr12_21126194_21244796	21166661	A A	ACAAGAAC others(353): Show ACAAGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	318	0.0031	360	c.85- others(375): Show c.85-5978_85-5977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAAGAACTCTT	SLCO1B1	ENSG00000134538.3	transcript	ENST00000256958.3	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SNTG2_chr2_945849_1372613	1099590	A A	AGTGAGGG others(353): Show AGTGAGGGCAGTGATGGTCAGGTCATCTGAAGGTGGGTGTGGTGAGGGCA GTGATGGTCAGGTCCTCTGAAGGTGGGTGTAGTGAGGGCAGTGATGGTCA GGTCCTCTGAAGGTGGGTGCAGTGAGGGCAGCGATGGTCAGGTCCTCTGA AGGTGGGTGTAGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGC GGTGAGGGCAGCGATGGTTCGGTCCTCTGAAGGTGGGTGCAGTGAGGGCA GTGATGGTCAGGTCCTCTAAAGGTGAGTGTGGTGAGGGCAGTGATGGTCA GGTCCTCTGAAGGTGGGTGTGGTGAGGGCAGTGATGGTCAGGTCCTCTGA AGGTGGGTGTG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0080 a0003c0007t0001g0080	1	190	0.0053	360	c.325 others(377): Show c.325+1203_325+1204insATCTGAAGGTGGGTGTGGTGAGGGCAGT GATGGTCAGGTCCTCTGAAGGTGGGTGTAGTGAGGGCAGTGATGGTCAGG TCCTCTGAAGGTGGGTGCAGTGAGGGCAGCGATGGTCAGGTCCTCTGAAG GTGGGTGTAGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGCGG TGAGGGCAGCGATGGTTCGGTCCTCTGAAGGTGGGTGCAGTGAGGGCAGT GATGGTCAGGTCCTCTAAAGGTGAGTGTGGTGAGGGCAGTGATGGTCAGG TCCTCTGAAGGTGGGTGTGGTGAGGGCAGTGATGGTCAGGTCCTCTGAAG GTGGGTGTGGTGAGGGCAGTGATGGTCAGGTC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX29_chr16_11971734_12579287	12203106	C C	CTCAGGTG others(353): Show CTCAGGTGGACTGGTGGCGTTGGAGGTGACAGCTCTGAAGTTGTATAGCG TGGCCCCACTCTCGGGTGGACTGGTGGTATTGGAGGTGACATTTCTGAAG TTGCGTAGTGTGGCCCCACTCTCAGGTGGACTGGTGGTATTGGAGGTGAC AGCTCTGAAGTTGCGTAGTGTGGCCCTGCTGTCAGGTGGACTGGTGGCAT TGGAGGTGACAACTCTGAAGTTGTATAGTGTGGCCCTGATGTCAGATGGA CTGGTGGCATTGGAGGTGACGTCTCTGAAGTTGTGTAGTGAGGCCTTGCT GTCAGGTGGACTGGTGGCATTGGAGGTGACAGCTCTGAAGTTGTGTAGTG TGACCCTGGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0029 a0001c0003t0016g0029	1	176	0.0057	360	c.167 others(379): Show c.1678+3440_1678+3441insGTTGGAGGTGACAGCTCTGAAGTTGT ATAGCGTGGCCCCACTCTCGGGTGGACTGGTGGTATTGGAGGTGACATTT CTGAAGTTGCGTAGTGTGGCCCCACTCTCAGGTGGACTGGTGGTATTGGA GGTGACAGCTCTGAAGTTGCGTAGTGTGGCCCTGCTGTCAGGTGGACTGG TGGCATTGGAGGTGACAACTCTGAAGTTGTATAGTGTGGCCCTGATGTCA GATGGACTGGTGGCATTGGAGGTGACGTCTCTGAAGTTGTGTAGTGAGGC CTTGCTGTCAGGTGGACTGGTGGCATTGGAGGTGACAGCTCTGAAGTTGT GTAGTGTGACCCTGGTGTCAGGTGGACTGGTGGC	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPAAR_chr9_35904490_35916686	35913493	C C	CTGTATGT others(353): Show CTGTATGTGTGTGGTGTGTATTTTTTTATGCTGTGGTGTGTGTGTAAGTT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGTGTATTTTTTTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTATTTTTTTATGCTGTGGTGTGTGTGTA AGTTGTATGTGTGTAGTGAGTGTGTGTGTGTTTGTATGCTGTGGTGTGTG TGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTG TGTGTGTAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	420	0.0024	360	c.28 others(371): Show c.2802_*2803insTGTATGTGTGTGGTGTGTATTTTTTTATGCTGTG GTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTATTTTTTTATGCTG TGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTATTTTTTTATGC TGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTGTTTGT ATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTT TTGTATGCTGTGGTGTGTGTGTAAGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		1808		chr9	TogoVar
SPATA13_chr13_24155720_24312069	24190256	T T	TATATATC others(353): Show TATATATCATTATATAACATATAATGATATATAATATATATCATTATATA ACATATAATGATATATAATATATATCATTATATAACATATAATGATATAT AATATATATCATTATATAACATATAATGATATATAATATATATCATTATA TAACATATAATGATATATAATATATATCATTATATAACATATAATGATAT ATAATATATATCATTATATAACATATAATGATATATAATATATATCATTA TATAACATATAATGATATATAATATATATTATATAACATGATGATATATA ATATATATTATTATATAACATATGATGATATATAATATATATTATTATAT AACATATGATG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19079.hp1 NA19001.hp2 NA19079.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0007 a0003c0011t0010 a0003c0011t0007 a0003c0011t0010	a0003c0011t0007g0180 a0003c0011t0010g0327 a0003c0011t0007g0180 a0003c0011t0010g0327	2	356	0.0056	360	c.-11 others(381): Show c.-112+29327_-112+29328insTATCATTATATAACATATAATGAT ATATAATATATATCATTATATAACATATAATGATATATAATATATATCAT TATATAACATATAATGATATATAATATATATCATTATATAACATATAATG ATATATAATATATATCATTATATAACATATAATGATATATAATATATATC ATTATATAACATATAATGATATATAATATATATCATTATATAACATATAA TGATATATAATATATATCATTATATAACATATAATGATATATAATATATA TTATATAACATGATGATATATAATATATATTATTATATAACATATGATGA TATATAATATATATTATTATATAACATATGATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(353): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	322	0.0031	360	c.909 others(375): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPIRE2_chr16_89823475_89876319	89852469	C C	CCCGTCTT others(353): Show CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCC GTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCGGATCCCATGA TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCG GATCCCATGAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	356	0.0028	360	c.645 others(377): Show c.645+1811_645+1812insGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGAT CCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTCT CACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCGGATCCCATGAT CCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCTTCTCTCTCACCCCCCGGATCCCATGATCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	T T	TCCATCTT others(353): Show TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	356	0.0028	360	c.646 others(377): Show c.646-1579_646-1578insATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	T T	TCCATCTT others(353): Show TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0320 a0001c0001t0003g0320	1	356	0.0028	360	c.646 others(377): Show c.646-1579_646-1578insATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGAT CCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852735	G G	GATCCCAT others(353): Show GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCTGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGCCCTCCCTCTCACCCCCCG GATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCTGTCCTCCCTC TCACCCCCCGC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0025 a0002c0002t0002g0050 a0002c0002t0002g0025 a0002c0002t0002g0050	2	356	0.0056	360	c.646 others(377): Show c.646-1474_646-1473insTGGATCCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC CCCGGATCCCATGGCCCGTCTTCCGCCCTCCCTCTCACCCCCCGGATCCC ATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTC TTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCCCGCATCCCATGGCCCGTCTTCTGTCCTCCCTCTCACCC CCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCC ATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852794	C C	CGTCCTCC others(353): Show CGTCCTCCCTCTCACCCCCTGGATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC GGATCCCATGGCCCGTCTTCCGCCCTCCCTCTCACCCCCCGGATCCCATG ATCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC GGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0024	1	356	0.0028	360	c.646 others(377): Show c.646-1474_646-1473insTGGATCCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC CCCGGATCCCATGGCCCGTCTTCCGCCCTCCCTCTCACCCCCCGGATCCC ATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTC TTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC CCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCC ATGGCCCGTCTTCTGTCCTCCCTCTCACCCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852855	C C	CATCCCAT others(353): Show CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCACATCCCATGG CCCGTCTTCCATCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCATCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCC ATCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	356	0.0028	360	c.646 others(377): Show c.646-1419_646-1418insGTCTTCCGTCCTCCCTCTCACCCCCCAC ATCCCATGGCCCGTCTTCCATCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCA TCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCATCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852908	G G	GTCTTCCA others(353): Show GTCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTC CTCCCTCTCACCCCCCGCATCCCATGGCCCCTCTTCCGTCCTCCCTCTCA CCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGAT CCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCC CTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTC CTCCCTCTCACCCCCCGGATCCCATGGCCCCTCTTCCGTCCTCCCTCTCA CCCCCCGGATCCCATGGCCCGTCTTCCATCCTCCCTCTCACCCCCCGGAT CCCATGGCCCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01934.hp1 HG01978.hp2 HG01123.hp1 HG01934.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0085	3	356	0.0084	360	c.646 others(377): Show c.646-1372_646-1371insATCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCCTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCCTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCCTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCATCCTCCC TCTCACCCCCCGGATCCCATGGCCCCTCTTCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPON1_chr11_13957723_14273133	14151764	T T	TAGAAATA others(353): Show TAGAAATATACAAATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	224	0.0045	360	c.825 others(379): Show c.825+16212_825+16213insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGAAATATACAAATCA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
STXBP6_chr14_24804454_25055147	24918294	T T	TAAAAGAA others(353): Show TAAAAGAAACAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCAGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0216 a0001c0001t0008g0216	1	242	0.0041	360	c.154 others(379): Show c.154+56370_154+56371insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTACTTGTTTCTTTT	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
SUFU_chr10_102498972_102638535	102637258	A A	ATATATAT others(353): Show ATATATATATAATATATATATTATATATTATATAACATATATTATATATA ATATATATATTATATATTATATAACTATATATTATATATAATATATATAT TATATATTATATAACTATATATTATATATAATATATATATTATATATTAT ATAACTATATATTATATATAATATATATATTATATATTATATAACTATAT ATTATATATAATATATAGTTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATAATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01258.hp1 HG01169.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0259 a0001c0001t0001g0199 a0001c0001t0001g0259	2	268	0.0075	360	c.71 others(371): Show c.7103_*7104insTATATATATAATATATATATTATATATTATATAA CATATATTATATATAATATATATATTATATATTATATAACTATATATTAT ATATAATATATATATTATATATTATATAACTATATATTATATATAATATA TATATTATATATTATATAACTATATATTATATATAATATATATATTATAT ATTATATAACTATATATTATATATAATATATAGTTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATAATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3724		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637701	A A	AATATAAT others(353): Show AATATAATTATATATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	268	0.0037	360	c.75 others(371): Show c.7546_*7547insATATAATTATATATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4167		chr10	TogoVar
SYNPR_chr3_63273308_63621924	63595745	A A	ATAATTTT others(353): Show ATAATTTTATATATATATAGTTTTATATATATATATATATATAATTTTAT ATATATATAGTTTTATATATATATATATATAATTTTATATATATATAGTT TTATATATATATATATATATAATTTTATATATATATAGTTTTATATATAT ATATATATAATTTTATATATATATAGTTTTATATATATATATATATAATT TTATATATATATAGTTTTATATATATATATATATATAATTTTATATATAT ATAGTTTTATATATATATATATATATAATTTTATATATATATAGTTTTAT ATATATATATATATATAATTTTATATATATATAGTTTTATATATATATAT ATATATAATTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	246	0.0041	360	c.409 others(379): Show c.409-13378_409-13377insATTTTATATATATATAGTTTTATATA TATATATATATATAATTTTATATATATATAGTTTTATATATATATATATA TAATTTTATATATATATAGTTTTATATATATATATATATATAATTTTATA TATATATAGTTTTATATATATATATATATAATTTTATATATATATAGTTT TATATATATATATATATAATTTTATATATATATAGTTTTATATATATATA TATATATAATTTTATATATATATAGTTTTATATATATATATATATATAAT TTTATATATATATAGTTTTATATATATATATATATATAATTTTATATATA TATAGTTTTATATATATATATATATATAATTTTA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(353): Show GGAGGGGGGGAGAGAGAGGGGGGAGGGGAGGGAGGGGGGGAGAGAGGGGG AGGGGGGGAGAGAGGGGGAGGGGGGAGAGGGGGGAGAGGGGGGAGGGAGG GGGGAGAGAGGGGGGAGAGGGGGAGGGGAGGGGGGAGGGAGGGGGGGAGA GAGAGGGGGAGGGAGGGGGAGAGAGAGAGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG GGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGGA GAGAGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGGAG AGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0069 a0001c0002t0069	a0001c0002t0069g0247 a0001c0002t0069g0247	1	276	0.0036	360	c.-18 others(379): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCCTCCCTCCCT CCCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCC CTCCCCCTCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCCTCCCT CCCCCCTCCCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCCTC TCCCCCCTCTCCCCCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCCC CCTCCCTCCCCTCCCCCCTCTCTCTCCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYTL3_chr6_158645054_158769871	158705117	A A	ACAGGGTG others(353): Show ACAGGGTGACAGTGAGGGCTGTAAGGCCACGTAGGACAGGAGGAACCCGG GGCAGGGTAACACTGAGGGCCGTAAGGTCACATAGGGCAGGAGGGACCTG GGGACAGGGTGACAGGGCTATAAGGCCACGTAGGACAGGAAGAACCCGGG GCAGGGTAACACTGAGGGCTGTAAGGTCACATAGAGCAGCGGGGGGGGAC CTGGGGGCAGGGTAACAGTGAGATCTGGAAAGTCACATAGAGCAGGAGGG ACTCGGGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGG GACCTGGGGACAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGA GGGACCCAGGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	292	0.0034	360	c.395 others(377): Show c.395-2084_395-2083insGTAGGACAGGAGGAACCCGGGGCAGGGT AACACTGAGGGCCGTAAGGTCACATAGGGCAGGAGGGACCTGGGGACAGG GTGACAGGGCTATAAGGCCACGTAGGACAGGAAGAACCCGGGGCAGGGTA ACACTGAGGGCTGTAAGGTCACATAGAGCAGCGGGGGGGGACCTGGGGGC AGGGTAACAGTGAGATCTGGAAAGTCACATAGAGCAGGAGGGACTCGGGG CAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCTGGG GACAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCA GGGCAGGGTGACAGTGAGGGCTGTAAGGCCAC	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAFA5_chr22_48484553_48756932	48638516	A A	AGGGGGGA others(353): Show AGGGGGGACCCCGACACTAAGCCCTGGGACACCACACACAGGCGGGACCC CGACACTAAGCCCTGGGTCACCACACACAGGCAATACCCCTCCCCTGACA CTAAGCCACACATAGGCAACAACCCCCCCCACACACTAAGCCCTGGGCCA CACACAGGCAATACCACCCCCCCCGACACTAAGCCCTGGGACACCGCACA CAGGGGGGACCCCGACACTAAGCCCTGGGACACCGCACACGGGGGACCCC GACACTAAGCCCTGGGACACCGCACACAGGCAGCACCCCTCCCCCGACAC TAAGCCCTGGGTCACCGCACACAGGGGGGACCCCAACACTAAGCCCTGGG ACACCACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp1 HG03098.hp2 HG02055.hp2 HG02717.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0003t0012 a0001c0001t0002 a0001c0001t0004 a0001c0003t0012	a0001c0001t0002g0057 a0001c0001t0004g0019 a0001c0003t0012g0144 a0001c0001t0002g0057 a0001c0001t0004g0019 a0001c0003t0012g0144	3	258	0.0116	360	c.113 others(377): Show c.113-8070_113-8069insGACACTAAGCCCTGGGACACCACACACA GGCGGGACCCCGACACTAAGCCCTGGGTCACCACACACAGGCAATACCCC TCCCCTGACACTAAGCCACACATAGGCAACAACCCCCCCCACACACTAAG CCCTGGGCCACACACAGGCAATACCACCCCCCCCGACACTAAGCCCTGGG ACACCGCACACAGGGGGGACCCCGACACTAAGCCCTGGGACACCGCACAC GGGGGACCCCGACACTAAGCCCTGGGACACCGCACACAGGCAGCACCCCT CCCCCGACACTAAGCCCTGGGTCACCGCACACAGGGGGGACCCCAACACT AAGCCCTGGGACACCACACACGGGGGGACCCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48736256	T T	TCCCCCCC others(353): Show TCCCCCCCAGGAGGAATGAGAATCACGCTCCCAGAGTCCAGAGTCCATCC CCCCAGGAGGAATGAGAATCGCACTCCCAGAGTCCAGAGCCCATCCCCCC AGGAGGAATGAGAATCACACTCCTAGAGTCCATCCCCCCCAGGAGGAATG AGAATCACGCTCCCAGAGTCCAGAGTCCATCCCCCCAGGAGGAATGAGAA TCGCACTCCTGGAGTCCAGAGTCCATCCCCCCAGGAGGAATGAGAATCAC ACTCCTGGAGTCCATCCCCCCGAGGAGGAATGAGAATCACACTCCCAGAG TCCACAGAGTCTATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGAGTC CAGAGTCCATC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02004.hp1 HG01952.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0003 a0001c0001t0027	a0001c0001t0003g0129 a0001c0001t0027g0118 a0001c0001t0003g0129 a0001c0001t0027g0118	2	258	0.0078	360	c.391 others(379): Show c.391-13579_391-13578insCCCAGGAGGAATGAGAATCACGCTCC CAGAGTCCAGAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCCAGA GTCCAGAGCCCATCCCCCCAGGAGGAATGAGAATCACACTCCTAGAGTCC ATCCCCCCCAGGAGGAATGAGAATCACGCTCCCAGAGTCCAGAGTCCATC CCCCCAGGAGGAATGAGAATCGCACTCCTGGAGTCCAGAGTCCATCCCCC CAGGAGGAATGAGAATCACACTCCTGGAGTCCATCCCCCCGAGGAGGAAT GAGAATCACACTCCCAGAGTCCACAGAGTCTATCCCCCCAGGAGGAATGA GAATCGCACTCCTAGAGTCCAGAGTCCATCCCCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar

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