Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(233): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGACACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAA CAGGCACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	360	0.0028	240	c.43 others(251): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGT CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(233): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCC TGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCTCTGCCAA CAGGCACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	360	0.0028	240	c.43 others(251): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAGAGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGT TGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214505	C C	CCTGCCAA others(233): Show CCTGCCAACAGGCACCGGGCTGCTTCTGCCAACAGGCACCGGGCTGCTTC TGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAA CAGGCACCGGGCTGCTTCTGCCAACAGGCACCGGGCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01515.hp2 others(1): Show HG00140.hp2 HG00280.hp2 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0215 a0001c0002t0002g0241 a0001c0002t0002g0045 a0001c0002t0002g0215 a0001c0002t0002g0241	4	360	0.0111	240	c.43 others(251): Show c.4305_*4306insAAGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCG GTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGC CTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGAAGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCGGTGCCTGT TGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3638		chr2	TogoVar
SH3YL1_chr2_213144_269032	214534	C C	CAACAGGC others(233): Show CAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCA ACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAAC AGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAG GCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGC ACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	360	0.0028	240	c.42 others(251): Show c.4276_*4277insCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCA GCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGC CCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCC GGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGG TGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTG CCTGTT	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3609		chr2	TogoVar
SHANK1_chr19_50654255_50724802	50707876	T T	TTTTTCTT others(233): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0088 a0002c0001t0088	a0002c0001t0088g0281 a0002c0001t0088g0281	1	316	0.0032	240	c.107 others(259): Show c.1078-3363_1078-3362insGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(233): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp2 HG01070.hp2 others(14): Show HG00621.hp2 HG00735.hp2 HG01070.hp2 HG01099.hp2 HG01109.hp1 HG01515.hp1 HG01891.hp1 HG01975.hp2 HG02074.hp1 HG02080.hp2 HG02258.hp2 HG03579.hp2 NA18952.hp2 NA18966.hp1 NA18988.hp2 NA19009.hp1 NA19084.hp1	a0001 a0001	a0001c0009 a0001c0019 a0001c0037 others(13): Show a0001c0009 a0001c0019 a0001c0037 a0001c0093 a0001c0105 a0001c0108 a0001c0132 a0001c0142 a0001c0231 a0001c0250 a0001c0291 a0001c0303 a0001c0306 a0001c0308 a0001c0310 a0001c0332	a0001c0009t0055 a0001c0009t0061 a0001c0019t0011 others(14): Show a0001c0009t0055 a0001c0009t0061 a0001c0019t0011 a0001c0037t0032 a0001c0093t0029 a0001c0105t0014 a0001c0108t0049 a0001c0132t0014 a0001c0142t0002 a0001c0231t0002 a0001c0250t0002 a0001c0291t0007 a0001c0303t0002 a0001c0306t0009 a0001c0308t0009 a0001c0310t0001 a0001c0332t0043	a0001c0009t0055g0089 a0001c0009t0061g0153 a0001c0019t0011g0242 others(14): Show a0001c0009t0055g0089 a0001c0009t0061g0153 a0001c0019t0011g0242 a0001c0037t0032g0246 a0001c0093t0029g0326 a0001c0105t0014g0046 a0001c0108t0049g0047 a0001c0132t0014g0048 a0001c0142t0002g0343 a0001c0231t0002g0162 a0001c0250t0002g0177 a0001c0291t0007g0049 a0001c0303t0002g0084 a0001c0306t0009g0155 a0001c0308t0009g0156 a0001c0310t0001g0154 a0001c0332t0043g0019	17	380	0.0447	240	c.-32 others(257): Show c.-32-1876_-32-1637dupGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(233): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCGGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0064 a0001c0005t0064	a0001c0005t0064g0118 a0001c0005t0064g0118	1	380	0.0026	240	c.-32 others(257): Show c.-32-1637_-32-1636insGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCCGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(233): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCGGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0186 a0001c0186	a0001c0186t0019 a0001c0186t0019	a0001c0186t0019g0258 a0001c0186t0019g0258	1	380	0.0026	240	c.-32 others(257): Show c.-32-1637_-32-1636insGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCCGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(233): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGGAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0005 a0005	a0005c0040 a0005c0040	a0005c0040t0003 a0005c0040t0003	a0005c0040t0003g0242 a0005c0040t0003g0242	1	256	0.0039	240	c.165 others(257): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGGAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SKI_chr1_2223319_2315213	2281598	G G	GGTGGCGG others(233): Show GGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGTGGTGGCG GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT TCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG AGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC GCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0253 a0001c0001t0005g0253	1	330	0.0030	240	c.970 others(259): Show c.970-21379_970-21378insTGGCGGAGATCTTCAGAGAGAAGACA CGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG GCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGG CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1099388	A A	AGCAGGGC others(233): Show AGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGACATCAACCCAG CCCCGACCCAGTCCACCTCCTCCGGGGGACAGCAGGGCCCGACCCGGTCC ACCTCCTCTGGGGCACGGACATCAACCCAGCCCCGACCCAGTCCACCTCC TCCGGGGGACGGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGAC ATCAACCCAGCCCCGACCCAGTCCACCTCCTCCGGGGGACG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02055.hp2 HG03491.hp2 others(1): Show HG01255.hp2 HG02055.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0006t0021 a0001c0001t0001 a0001c0006t0001 a0001c0006t0021	a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0006t0001g0048 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0006t0001g0048 a0001c0006t0021g0104	4	118	0.0339	240	c.125 others(257): Show c.125-5141_125-5140insCGTCCCCCGGAGGAGGTGGACTGGGTCG GGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGGGTCGGGCCCT GCCGTCCCCCGGAGGAGGTGGACTGGGTCGGGGCTGGGTTGATGTCCGTG CCCCAGAGGAGGTGGACCGGGTCGGGCCCTGCTGTCCCCCGGAGGAGGTG GACTGGGTCGGGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGG GTCGGGCCCTGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC25A23_chr19_6435064_6464792	6435425	T T	TAAAAATT others(233): Show TAAAAATTATGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02280.hp1 NA20300.hp1 HG02004.hp1 HG02280.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0075 a0001c0002t0002g0019 a0001c0002t0002g0075	3	366	0.0082	240	c.65 others(251): Show c.6549_*6550insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCATA ATTTTT	SLC25A23	ENSG00000125648.15	transcript	ENST00000301454.9	protein_coding		4638		chr19	TogoVar
SLC25A23_chr19_6435064_6464792	6435425	T T	TAAAAATT others(233): Show TAAAAATTATGACCATCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0178 a0001c0002t0002g0178	1	366	0.0027	240	c.65 others(251): Show c.6549_*6550insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACAGGGTTTCACCGTTTTAGCCGGGATGGTCATA ATTTTT	SLC25A23	ENSG00000125648.15	transcript	ENST00000301454.9	protein_coding		4638		chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6435425	T T	TAAAAATT others(233): Show TAAAAATTATGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02280.hp2 NA19043.hp2 others(1): Show HG02004.hp2 HG02280.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0012 a0001c0001t0001g0047 a0001c0001t0001g0050	4	350	0.0114	240	c.-17 others(251): Show c.-1733_-1732insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCATA ATTTTT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding		1663		chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6435425	T T	TAAAAATT others(233): Show TAAAAATTATGACCATCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	350	0.0029	240	c.-17 others(251): Show c.-1733_-1732insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACAGGGTTTCACCGTTTTAGCCGGGATGGTCATA ATTTTT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding		1663		chr19	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747510	C C	CCAGGGGG others(233): Show CCAGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGCGGGGCAGGGGGGTGA GCAGGGCCCGGTGGAGGTTGGGAGGGGGGCCAGGGGGTGAGCAGGGCCTG GTGGGTGGGGGGGGCGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGG GGGGGCGGGGCAGGGGGTGAGCAGGGCCCGGTGGAGGTTGGGAGGGGGGC CAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGTGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	416	0.0024	240	c.45 others(251): Show c.4520_*4521insCAGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGC GGGGCAGGGGGGTGAGCAGGGCCCGGTGGAGGTTGGGAGGGGGGCCAGGG GGTGAGCAGGGCCTGGTGGGTGGGGGGGGCGGGGCAGGGGGTGAGCAGGG CCTGGTGGAGGTGGGGGGGGCGGGGCAGGGGGTGAGCAGGGCCCGGTGGA GGTTGGGAGGGGGGCCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGTGG GGGGGG	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3461		chr20	TogoVar
SLC35F1_chr6_117902264_118322671	117923718	C C	CATATATG others(233): Show CATATATGTATATATATACATATGTATATATATACATATATGTACATATG TACATATATACATATATGTACATATGTACATATATGTATATACATATATA CATATGCATATATACATATATGTACATATGTACATATATACATATACATA TATGTACATATACACATATACATATGTATATATACATATATGTACACATG TACATATACATATGTATATATGTACATATGTACATATATGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0104 a0001c0001t0007g0104	1	182	0.0055	240	c.173 others(259): Show c.173+15825_173+15826insGTATATATATACATATGTATATATAT ACATATATGTACATATGTACATATATACATATATGTACATATGTACATAT ATGTATATACATATATACATATGCATATATACATATATGTACATATGTAC ATATATACATATACATATATGTACATATACACATATACATATGTATATAT ACATATATGTACACATGTACATATACATATGTATATATGTACATATGTAC ATATATGTATATAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117924143	A A	ATATATAC others(233): Show ATATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0058 a0001c0001t0009g0058	1	182	0.0055	240	c.173 others(259): Show c.173+16281_173+16520dupCACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F3_chr1_233899676_234329511	234140002	A A	AATAAAAT others(233): Show AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAAAAATAAAATAAAATAAAATATAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	158	0.0063	240	c.284 others(259): Show c.284-91415_284-91414insATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAATAAAATAAAATA AAATATAAAAAAAT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7			chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8331445	A A	AAACACTT others(233): Show AAACACTTTTAAAAAATATTTTTAAAAACACTTTTAAAAAATATTTTTAA AAAACACTTTTAAAAAATATTTTTAAAAACACTTTTAAAAAATATTTTTA AAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTT TAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATT TTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0324 a0001c0001t0002g0324	1	388	0.0026	240	c.144 others(257): Show c.1443+511_1443+512insCACTTTTAAAAAATATTTTTAAAAACAC TTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAACA CTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAA CACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAA AACACTTTTAAAAAATATTTTAAAAAACACTTTTAAAAAATATTTTTAAA AAACACTTTTAA	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC5A12_chr11_26662020_26727060	26680283	T T	TTATATAT others(233): Show TTATATATATGTATATATATTCATATATATATGTATATATATTCATATAT ATGTATATATATTCATATATATATATGAATATATATTCATATATATATGT ATATATATTCATATATATGTATATATATTCATATATATATATGAATATAT ATTCATATATATATGTATATATATTCATATATATATGTATATATATTCAT ATATATGTATATATATTCATATATATATGTATATATATTCA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0058 a0001c0003t0020g0058	1	412	0.0024	240	c.147 others(257): Show c.1475+771_1475+772insTGAATATATATACATATATATATGAATA TATATACATATATATGAATATATATACATATATATATGAATATATATACA TATATATATGAATATATATTCATATATATATATGAATATATATACATATA TATGAATATATATACATATATATATGAATATATATTCATATATATATATG AATATATATACATATATATGAATATATATACATATATATATGAATATATA TACATATATATA	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	12/14			chr11	TogoVar
SLC5A12_chr11_26662020_26727060	26680306	T T	TATATATA others(233): Show TATATATATGTATATATATTCATATATATATGTATATATATTCATATATA TGTATATATATTCATATATATATATGAATATATATTCATATATATATGTA TATATATTCATATATATATGTATATATATTCATATATATGTATATATATT CATATATATATATGTATATATATTCATATATATATGTATATATATTCATA TATATATGTATATATATTCATATATATATGTATATATATTC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0161 a0001c0003t0017g0161	1	412	0.0024	240	c.147 others(257): Show c.1475+748_1475+749insGAATATATATACATATATATATGAATAT ATATACATATATATATGAATATATATACATATATATATGAATATATATAC ATATATATATATGAATATATATACATATATATGAATATATATACATATAT ATATGAATATATATACATATATATATGAATATATATTCATATATATATAT GAATATATATACATATATATGAATATATATACATATATATATGAATATAT ATACATATATAT	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	12/14			chr11	TogoVar
SLC6A13_chr12_215622_267836	233201	G G	GGAGGCAG others(233): Show GGAGGCAGAGGCAGGGCATAACCGGGTAACAACACTTCAGGGCCTCTGGG GCGGAGCTTACCCACGCACCCCTCCGGCCCTCGACACCTCCTGGCTTTGC CAGCTTTCAGATGGCTGCCAAAGAGGGGAAGGTAAGAGACCTGTCAGAGG CAGGGCCTGCCCATTCCAGGCCTTGCTTTCCAACCCCCTTCAGGCAGCAG GCAACACCACCCCTCCCTACCCGGACGGTAAAAAAGCCCGC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	442	0.0023	240	c.831 others(257): Show c.831+1649_831+1888dupGCGGGCTTTTTTACCGTCCGGGTAGGGA GGGGTGGTGTTGCCTGCTGCCTGAAGGGGGTTGGAAAGCAAGGCCTGGAA TGGGCAGGCCCTGCCTCTGACAGGTCTCTTACCTTCCCCTCTTTGGCAGC CATCTGAAAGCTGGCAAAGCCAGGAGGTGTCGAGGGCCGGAGGGGTGCGT GGGTAAGCTCCGCCCCAGAGGCCCTGAAGTGTTGTTACCCGGTTATGCCC TGCCTCTGCCTC	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	7/14			chr12	TogoVar
SLC6A13_chr12_215622_267836	239064	C C	CTGCTCTA others(233): Show CTGCTCTACCACGTCCACCCTGTTCCCTGCACACGTGGGGTGTGTTGGAT CCATTCCCACACCATTCCCCTCAGCCACATGCTCTACCACGTCCACCCTG TTCCCTGCCCCTTCAGCCACCTGCTCTACCACGTCCACCCTGTTCCCTGC ACACGTGGGGTATGTTGGATCCATTCCCACACCATTTCCCTCAGCCACAT GCTCTACCACGTCCACCCTGTTCCCTGCCCCTTCAGCCACG	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18950.hp1 HG00621.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0058 a0001c0001t0001g0059	2	442	0.0045	240	c.479 others(257): Show c.479-1055_479-1054insCGTGGCTGAAGGGGCAGGGAACAGGGTG GACGTGGTAGAGCATGTGGCTGAGGGAAATGGTGTGGGAATGGATCCAAC ATACCCCACGTGTGCAGGGAACAGGGTGGACGTGGTAGAGCAGGTGGCTG AAGGGGCAGGGAACAGGGTGGACGTGGTAGAGCATGTGGCTGAGGGGAAT GGTGTGGGAATGGATCCAACACACCCCACGTGTGCAGGGAACAGGGTGGA CGTGGTAGAGCA	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	4/14			chr12	TogoVar
SLC6A13_chr12_215622_267836	239064	C C	CTGCTCTA others(233): Show CTGCTCTACCACGTCCACCCTGTTCCCTGCACACGTGGGGTGTGTTGGAT CCATTCCCACACCATTCCCCTCAGCCACATGCTCTACCACGTCCACCCTG TTCCCTGCCCCTTCAGCCACCTGCTCTACCACGTCCACCCTGTTCCCTGC ACACGTGGGGTGTGTTGGATCCATTCCCACACCATTTCCCTCAGCCACAT GCTCTACCACGTCCACCCTGTTCCCTGCCCCTTCAGCCACG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01934.hp1 NA19002.hp1 others(2): Show HG00741.hp1 HG01934.hp1 NA19002.hp1 NA19062.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0057 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0057 a0001c0001t0001g0081 a0001c0001t0001g0082	5	442	0.0113	240	c.479 others(257): Show c.479-1055_479-1054insCGTGGCTGAAGGGGCAGGGAACAGGGTG GACGTGGTAGAGCATGTGGCTGAGGGAAATGGTGTGGGAATGGATCCAAC ACACCCCACGTGTGCAGGGAACAGGGTGGACGTGGTAGAGCAGGTGGCTG AAGGGGCAGGGAACAGGGTGGACGTGGTAGAGCATGTGGCTGAGGGGAAT GGTGTGGGAATGGATCCAACACACCCCACGTGTGCAGGGAACAGGGTGGA CGTGGTAGAGCA	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	4/14			chr12	TogoVar
SLC6A13_chr12_215622_267836	239098	G G	GTGGGGTG others(233): Show GTGGGGTGTGTTGGATCCATTCCCACACCATTCCCCTCAGCCACATGCTC TACCACGTCCACCCTGTTCCCTGCCCCTTCAGCCACCTGCTCTAACACGT CCACCCTGTTCCCTGCACACGTGGGGTGTGTTGGATCCATTCCCACACCA TTTCCCTCAGCCACATGCTCTACCACGTCCACCCTGTTCCCTGCCCCTTC AGCCACGTGCTCTACCACGTCCACCCTGTTCCCTGCACACA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA19003.hp2 NA18965.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0074 a0001c0001t0001g0047 a0001c0001t0001g0074	2	442	0.0045	240	c.479 others(257): Show c.479-1089_479-1088insTGTGTGCAGGGAACAGGGTGGACGTGGT AGAGCACGTGGCTGAAGGGGCAGGGAACAGGGTGGACGTGGTAGAGCATG TGGCTGAGGGAAATGGTGTGGGAATGGATCCAACACACCCCACGTGTGCA GGGAACAGGGTGGACGTGTTAGAGCAGGTGGCTGAAGGGGCAGGGAACAG GGTGGACGTGGTAGAGCATGTGGCTGAGGGGAATGGTGTGGGAATGGATC CAACACACCCCA	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	4/14			chr12	TogoVar
SLC6A13_chr12_215622_267836	239098	G G	GTGGGGTG others(233): Show GTGGGGTGTGTTGGATCCATTCCCACACCATTCCCCTCAGCCACATGCTC TACCACGTCCACCCTGTTCCCTGCCCCTTCAGCCACCTGCTCTACCACGT CCACCCTGTTCCCTGCACACGTGGGGTGTGTTGGATCCATTCCCACACCA TTTCCCTCAGCCACATGCTCTACCACGTCCACCCTGTTCCCTGCCCCTTC AGCCACGTGCTCTACCACGTCCACCCTGTTCCCTGCACACA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01496.hp1 HG01952.hp2 others(30): Show HG01358.hp1 HG01496.hp1 HG01952.hp2 HG02015.hp2 HG02129.hp1 HG02809.hp1 HG02818.hp2 HG03130.hp1 HG03669.hp1 HG06807.hp2 NA18941.hp2 NA18946.hp2 NA18951.hp2 NA18959.hp2 NA18960.hp2 NA18966.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0014 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0001c0014t0001 a0002c0005t0001	a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0045 others(30): Show a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0002t0001g0044 a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0008t0001g0071 a0001c0014t0001g0065 a0002c0005t0001g0046 a0002c0005t0001g0051 a0002c0005t0001g0052 a0002c0005t0001g0070 a0002c0005t0001g0080	33	442	0.0747	240	c.479 others(257): Show c.479-1089_479-1088insTGTGTGCAGGGAACAGGGTGGACGTGGT AGAGCACGTGGCTGAAGGGGCAGGGAACAGGGTGGACGTGGTAGAGCATG TGGCTGAGGGAAATGGTGTGGGAATGGATCCAACACACCCCACGTGTGCA GGGAACAGGGTGGACGTGGTAGAGCAGGTGGCTGAAGGGGCAGGGAACAG GGTGGACGTGGTAGAGCATGTGGCTGAGGGGAATGGTGTGGGAATGGATC CAACACACCCCA	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	4/14			chr12	TogoVar
SLC7A10_chr19_33203664_33230850	33215583	A A	ACCCCCAC others(233): Show ACCCCCACACCTTCTCTCCATCCAGCCCCCACACCTTCTCTCCATCCAGC CCCCACACCTTCTCTCCATCCAGCCCCCACACCTTCTCTCCATCCAGCCC CCACACCTTCTCTCCATCCAGCCCCCACACCTTCTCTCCATCCAGCCCCC ACACCTTCTCTCCATCCAGCCCCCACACCTTCTCTCCATCCAGCCCCCAC ACCTTCTCTCCATCCAGCCCCCACACCTTCTCTCCATCCAG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	410	0.0024	240	c.356 others(255): Show c.356+185_356+186insCTGGATGGAGAGAAGGTGTGGGGGCTGGAT GGAGAGAAGGTGTGGGGGCTGGATGGAGAGAAGGTGTGGGGGCTGGATGG AGAGAAGGTGTGGGGGCTGGATGGAGAGAAGGTGTGGGGGCTGGATGGAG AGAAGGTGTGGGGGCTGGATGGAGAGAAGGTGTGGGGGCTGGATGGAGAG AAGGTGTGGGGGCTGGATGGAGAGAAGGTGTGGGGGCTGGATGGAGAGAA GGTGTGGGGG	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	2/10			chr19	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(233): Show TTATATATATATTATATATATTATATATATTATGTATAATATATATTATA TATTATATATATATTATATATATTATGTATAATATATATTATATATTATA TATATATTATATATATTATGTATAATATATATTATATATATTATATATAT TATGTATAATATATATTATATATATTATATATTATGTATAATATATATTT TATATATTATATATATTATGTATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0184 a0001c0001t0113g0184	1	310	0.0032	240	c.784 others(255): Show c.784+877_784+878insTAATATATAATATATATTATACATAATATA TATAATATATAAAATATATATTATACATAATATATAATATATATAATATA TATTATACATAATATATATAATATATATAATATATATTATACATAATATA TATAATATATATATAATATATAATATATATTATACATAATATATATAATA TATATATAATATATAATATATATTATACATAATATATATAATATATATAA TATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMIM2_chr13_44138150_44166257	44142132	C C	CCTCGGCT others(233): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	240	c.17 others(251): Show c.1785_*1786insCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMYD3_chr1_245744347_246512279	245974749	C C	CAGGGAAA others(233): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0114 a0002c0003t0002g0114	1	150	0.0067	240	c.532 others(259): Show c.532-44813_532-44812insAGGCTAGAGACGATGGCTTTCCCTAG GCCGGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGC TAGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTGGGCCGGA GACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGA CGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975897	G G	GGCCCAGG others(233): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGG GAAAGCCATCGTCTCTGGCCCAGGGAAAGCCATCGTCTCTA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	150	0.0067	240	c.532 others(259): Show c.532-45961_532-45960insTAGAGACGATGGCTTTCCCTGGGCCA GAGACGATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCTGGGCTGGA GACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGCTAGAGA CGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGCCGGAGACG ATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGCCGGAGACGAT GGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975949	T T	TAGGGAAA others(233): Show TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0084 a0001c0002t0002g0084	1	150	0.0067	240	c.532 others(259): Show c.532-46013_532-46012insGGGCCGGAGACGATGGCTTTCCCTGG GCTAGAGACGATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCTGGGC TAGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTAGGCCG GAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTAGGCTAGA GACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGCTAGAGA CGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975949	T T	TAGGGAAA others(233): Show TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTGGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	150	0.0067	240	c.532 others(259): Show c.532-46013_532-46012insGGGCCGGAGACGATGGCTTTCCCTGG GCTAGAGACGATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCTGGGC TAGAGACGATGGCTTTCCCTGGGCCAGAGACGATGGCTTTCCCTAGGCCG GAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTAGGCTAGA GACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGCTAGAGA CGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976545	A A	AGCCTAGG others(233): Show AGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	150	0.0067	240	c.532 others(259): Show c.532-46609_532-46608insCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGCTGGA GACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGA CGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGACG ATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTAGGCTAGAGACGAT GGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245977005	C C	CAGGGAAA others(233): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0136 a0002c0005t0001g0136	1	150	0.0067	240	c.532 others(259): Show c.532-47069_532-47068insAGGCTAGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGC TAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTAGGCTAGA GACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGCTAGAGA CGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245977029	C C	CAGGGAAA others(233): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0022 a0001c0006t0001g0022	1	150	0.0067	240	c.532 others(259): Show c.532-47093_532-47092insAGGCTAGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGC TAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTGGGCTA GAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTGGGCTAGA GACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGCTAGAGA CGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1221951	G G	GCCTATCT others(233): Show GCCTATCTCTGTCTCTGTTTCTCTCTGTCTCTCTCTGTCTCTGCCTATCT CTGTCTCTGTTTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTCTGT CTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGT CTCTGTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTGTGTCTCTCTCT GTCTCTGCCTATCTCTGTCTCTGTTTCTGTCTCTGTCTCTA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0001 a0006c0028t0001	a0006c0028t0001g0117 a0006c0028t0001g0117	1	190	0.0053	240	c.719 others(259): Show c.719+12721_719+12722insCCTATCTCTGTCTCTGTTTCTCTCTG TCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTCTCTCTGTCTCTGTC TCTGTCTCTCTCTGTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTC TGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTGTCTCTGCCTCTCTC TGTCTCTGTCTGTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTC TGTCTCTGTCTCTA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SNX12_chrX_71054247_71073334	71071574	A A	ATATATAT others(233): Show ATATATATAAATATATAATATTTATATATTATATATATAAATATATAATA TTTATATATTATATATATAAATATATAATATTTATATATTATATATATAA ATATATAATATTTATATATTATATATATAAATATATAATATTTATATATT ATATATATAAATATATAATATTTATATATATTATATATAAATATATAATA TTTATATATATTATATATAAATATATAATATTTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	309	0.0032	240	c.-32 others(251): Show c.-3269_-3268insATATATATAAATATTATATATTTATATATAATAT ATATAAATATTATATATTTATATATAATATATATAAATATTATATATTTA TATATATAATATATAAATATTATATATTTATATATATAATATATAAATAT TATATATTTATATATATAATATATAAATATTATATATTTATATATATAAT ATATAAATATTATATATTTATATATATAATATATAAATATTATATATTTA TATATA	SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding		3241		chrX	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(233): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0142 a0001c0001t0008g0142	1	168	0.0060	240	c.548 others(259): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA13_chr13_24155720_24312069	24189953	T T	TTATATAT others(233): Show TTATATATAATTATATAATATATTACGTAATATATTATATATAATTATAT AATATATTACGTAATATATTATATATAATTATATAATATATTACGTAATA TATTATATATAATTATATAATATATTACGTAATATATTATATATAATTAT ATAATATATTACGTAATATATTATATATAATTATATAATATATTACGTAA TATATTATATATAATTATATAATATATTACATAATATATTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG02040.hp1 others(4): Show HG00438.hp2 HG00673.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02148.hp2 NA18999.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0041 others(1): Show a0001c0001 a0001c0002 a0001c0041 a0008c0021	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0031 a0001c0041t0005 a0008c0021t0119	a0001c0001t0002g0186 a0001c0001t0004g0135 a0001c0002t0001g0053 others(4): Show a0001c0001t0002g0186 a0001c0001t0004g0135 a0001c0002t0001g0053 a0001c0002t0001g0105 a0001c0002t0031g0281 a0001c0041t0005g0161 a0008c0021t0119g0266	7	356	0.0197	240	c.-11 others(261): Show c.-112+29027_-112+29028insTAATTATATAATATATTACGTAAT ATATTATATATAATTATATAATATATTACGTAATATATTATATATAATTA TATAATATATTACGTAATATATTATATATAATTATATAATATATTACGTA ATATATTATATATAATTATATAATATATTACGTAATATATTATATATAAT TATATAATATATTACGTAATATATTATATATAATTATATAATATATTACA TAATATATTATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24189953	T T	TTATATAT others(233): Show TTATATATAATTATATAATATATTACGTAATATATTATATATAATTATAT AATATATTACGTAATATATTATATATAATTATATAATATATTACGTAATA TATTATATATAATTATATAATATATTACGTAATATATTATATATAATTAT ATAATATATTACGTAATATATTATATATAATTATATAATATATTACGTAA TATATTATATATAATTATATAATATATTACGTAATATATTA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0113 a0008c0016t0001g0113	1	356	0.0028	240	c.-11 others(261): Show c.-112+29027_-112+29028insTAATTATATAATATATTACGTAAT ATATTATATATAATTATATAATATATTACGTAATATATTATATATAATTA TATAATATATTACGTAATATATTATATATAATTATATAATATATTACGTA ATATATTATATATAATTATATAATATATTACGTAATATATTATATATAAT TATATAATATATTACGTAATATATTATATATAATTATATAATATATTACG TAATATATTATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATC1L_chr21_46156160_46189459	46161025	G G	GTGGAGGG others(233): Show GTGGAGGGGGAAGGGGGAGGGGGAAGGGGGGAGGGGGAAGGGGAAGGGGG AGGGGGAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGA GGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGGAAGGGGGAG GGGGAAGGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0008 a0001c0003t0009g0008	1	251	0.0040	240	c.35 others(249): Show c.353_*354insGCTTCCCCCTCCCCCTCCCCATCTCCCCTCCCCCCT TCCCCCTCCCCCTTCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCTCCTCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTC CCCCTCCCCCTTCCCCTTCCCCCTCCCCCCTTCCCCCTCCCCCTTCCCCC TCCA	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		134		chr21	TogoVar
SPIRE2_chr16_89823475_89876319	89852381	G G	GATCCCAT others(233): Show GATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGA TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCTGC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	356	0.0028	240	c.645 others(257): Show c.645+1733_645+1734insGTCATCCGTCTTCTCTCTCACCCCCCGG ATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCTGC ATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852566	C C	CCACCCCC others(233): Show CCACCCCCCATATTCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0336 a0001c0001t0003g0336	1	356	0.0028	240	c.646 others(257): Show c.646-1713_646-1712insCATATTCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC CCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCC ATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGATCCGTC TTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852621	C C	CTGGCCCG others(233): Show CTGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGATCCATC TTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC CCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCC ATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCA	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18947.hp2 NA18994.hp1 HG02015.hp1 NA18947.hp2 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0031 a0002c0002t0002g0037 a0002c0002t0002g0024 a0002c0002t0002g0031 a0002c0002t0002g0037	3	356	0.0084	240	c.646 others(257): Show c.646-1623_646-1622insATCCATCTTCCATCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGGATCCCATG	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(233): Show TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	356	0.0028	240	c.646 others(257): Show c.646-1579_646-1578insATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCC	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(233): Show TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTC TCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	356	0.0028	240	c.646 others(257): Show c.646-1579_646-1578insATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCA TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852935	C C	CATCCCAT others(233): Show CATCCCATGGCCCGTCTTCTGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0037	1	356	0.0028	240	c.646 others(257): Show c.646-1333_646-1332insTGTCCTCCCTCTCACCCCCCGCATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS3_chr17_4428940_4493204	4462490	C C	CACCCACC others(233): Show CACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCATCCATCCA CCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATCCATCCACC CACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCACCCACCCA CCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCTACCCACCCATCCATCCACCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01169.hp1 others(1): Show HG01109.hp2 HG01167.hp1 HG01169.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0011t0003 a0002c0002t0001 a0002c0011t0003	a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 others(1): Show a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0011t0003g0285	4	362	0.0111	240	c.111 others(259): Show c.1113+9286_1113+9287insCCCACCCACCAGTCCATCCACCCACC AATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCACCAATCCA TCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATCCACCAATC CATCCATCCATCCACCCACCCACCCACCCACCAATCCATCCATCCACCCA CCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCTACCCACC CATCCATCCACCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar

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