Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(539): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACATATATAA ATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATAC GTATATACTATATATGTTGTATATACGTATATACAACATAAATATATGTT GTATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAA CATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGTAT ATACGTATATACAACATAAATATATGTTGTATATACGTATATACATATAT AAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATAT ACGTATATACAACATAAATATATGTTGTATATACGTATATGCAACATAAA TATATGTTGTATATACGTATATACAACATAAATATATGTTGTATATACGT ATATACAACATAAATATATGTTGTATATACGTATATACAACATAAAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	236	0.0042	546	c.676 others(563): Show c.676-4666_676-4665insATTTATGTTGTATATACGTATATACAAC ATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTATA TACGTATATACAACATATATTTATGTTGCATATACGTATATACAACATAT ATTTATGTTGTATATACGTATATACAACATATATTTATATATGTATATAC GTATATACAACATATATTTATATATGTATATACGTATATACAACATATAT TTATGTTGTATATACGTATATACAACATATATTTATGTTGTATATACGTA TATACAACATATATTTATGTTGTATATACGTATATACAACATATATTTAT GTTGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATA CAACATATATAGTATATACGTATATACAACATATATTTATATATGTATAT ACGTATATACAACATATATTTATATATGTATATACGTATATACAACATAT ATTTATATATGTATATACGTATATACAACATATATTTATATATGTATATA CGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
BRD3OS_chr9_134020481_134036587	134025265	T T	TCCAGCCC others(539): Show TCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAAC AGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTT CAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCT CCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCC TTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTC CTCCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCCAGCCCTTTCT CCTCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTCCAGCCCCTCC TCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAGCCCCTCCTCC TCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCAGCCCCTCCTC CAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCA GCCCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 NA18980.hp1 HG02132.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0001g0001 a0001c0001t0004g0001	2	334	0.0060	546	c.-10 others(557): Show c.-1058_-1057insCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCC AGCTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATC CAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCT CCTCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCC TCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTC CAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCT CATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCC TCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCC TCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTC CTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCA GCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCC TCCTCCTCCAGC	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		215		chr9	TogoVar
C22orf42_chr22_32144006_32164303	32145651	T T	TATATAAT others(539): Show TATATAATATAATTTATTATATTATATAATGATATATAATATAATTTATT ATATTATATAATGATATATAATATAATTTATTATATTATATAATGATATA TAATATAATTTATTATATTATATAATGATATATAATATAATTTATTATAT TATATAATGATATATAATATAATTTATTATATTATATAATGATATATAAT ATAATTTATTATATTATATAATGATATATAATATAATTTATTATATTATA TAATGATATATAATATAATTTATTATATTATATAATGATATATAATATAA TTTATTATATTATATAATGATATATAATATAATTTATTATATTATATAAT GATATATAATATAATTTATTATATTATATAATGATATATAATATAATTTA TTATATTATATAATGATATATAATATAATTTATTATATTATATAATATAT AATATAATTTATTATATTATATAATGATATATAATATAATTTATTATATT ATATAATGATATATAATATAATTTATTATATTATATAATGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0012 a0002c0007t0002g0012	1	398	0.0025	546	c.38 others(557): Show c.3888_*3889insTATATATCATTATATAATATAATAAATTATATTA TATATCATTATATAATATAATAAATTATATTATATATCATTATATAATAT AATAAATTATATTATATATTATATAATATAATAAATTATATTATATATCA TTATATAATATAATAAATTATATTATATATCATTATATAATATAATAAAT TATATTATATATCATTATATAATATAATAAATTATATTATATATCATTAT ATAATATAATAAATTATATTATATATCATTATATAATATAATAAATTATA TTATATATCATTATATAATATAATAAATTATATTATATATCATTATATAA TATAATAAATTATATTATATATCATTATATAATATAATAAATTATATTAT ATATCATTATATAATATAATAAATTATATTATATATCATTATATAATATA ATAAATTATATTATATATCATTATATAATATAATAAATTATATTATATAT CATTATATAATATAATAAATTATATTATATATCATTATATAATATAATAA ATTATATTATAT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3354		chr22	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(539): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCGCCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGG CTCATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGCCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0043 a0043	a0043c0032 a0043c0032	a0043c0032t0001 a0043c0032t0001	a0043c0032t0001g0227 a0043c0032t0001g0227	1	326	0.0031	546	c.144 others(563): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCC CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCAGGCGTGGGGCTCATCCCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGCGGGGGCCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C4orf19_chr4_37448925_37598510	37585380	T T	TGAGGGAG others(539): Show TGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGG AGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAG GGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGG GAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGG TGTTGAGGGAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAG AGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGG GAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCG AGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAG AGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGG GAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGA GGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGAGGAGAGATATC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03704.hp2 HG03834.hp1 others(1): Show HG02735.hp1 HG03704.hp2 HG03834.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0152 a0001c0001t0015g0208 a0001c0001t0015g0250 others(1): Show a0001c0001t0015g0152 a0001c0001t0015g0208 a0001c0001t0015g0250 a0001c0001t0015g0299	4	354	0.0113	546	c.-22 others(563): Show c.-22-3442_-22-3441insATGTTGAGGGAGGGGAGGGGAGAGGAGA GATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGG AGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAG GGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGT TGAGGGAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGG AGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAG GGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGG GAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGG TGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAG AGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGG GAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGAGGAGAGATATCGAGGGA GGGGAGGGGAGAGGAGAG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004446	G G	GTGATGAT others(539): Show GTGATGATGGTGATGATGTGATGGTGATGATGTTGATGATGGTGATGATG GTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGTTGATGATGGT GATGATGGTGATGATGGTGATGGTGATGATAGTGATGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATGATGATGGTG ATGTGATGGTAATGGTGATGATGGTGATGGTGATGATGATGTGGTGGTGA TGGTGATGCTGATGATGGTGATGATGGTGATGGTGATGATAGTGATGATG GTGATGATGGTGATGGTGATGATGGTGATGGTGATGATATTGATGGTGAT GATATTGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATGGT GATGATGGTGATAGTTATGATGGTGATGGTGATGATGTTGATGATGGTGA TGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00544.hp2 others(48): Show HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01123.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01975.hp2 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp1 HG02738.hp2 HG03017.hp1 HG03130.hp1 HG03927.hp1 HG04184.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18944.hp2 NA18947.hp2 NA18952.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18986.hp2 NA18995.hp1 NA19056.hp2 NA19057.hp1 NA19084.hp1 NA19090.hp2 NA19091.hp2 NA20905.hp2	a0002 a0003 a0006 others(13): Show a0002 a0003 a0006 a0007 a0010 a0012 a0025 a0036 a0040 a0042 a0048 a0052 a0071 a0082 a0084 a0094	a0002c0002 a0003c0004 a0006c0007 others(13): Show a0002c0002 a0003c0004 a0006c0007 a0007c0008 a0010c0010 a0012c0080 a0025c0023 a0036c0040 a0040c0031 a0042c0043 a0048c0051 a0052c0059 a0071c0075 a0082c0108 a0084c0098 a0094c0094	a0002c0002t0000 a0003c0004t0000 a0006c0007t0000 others(13): Show a0002c0002t0000 a0003c0004t0000 a0006c0007t0000 a0007c0008t0000 a0010c0010t0000 a0012c0080t0000 a0025c0023t0000 a0036c0040t0000 a0040c0031t0000 a0042c0043t0000 a0048c0051t0000 a0052c0059t0000 a0071c0075t0000 a0082c0108t0000 a0084c0098t0000 a0094c0094t0000	a0002c0002t0000g0080 a0002c0002t0000g0089 a0002c0002t0000g0090 others(47): Show a0002c0002t0000g0080 a0002c0002t0000g0089 a0002c0002t0000g0090 a0002c0002t0000g0144 a0002c0002t0000g0157 a0002c0002t0000g0161 a0002c0002t0000g0172 a0002c0002t0000g0173 a0002c0002t0000g0180 a0002c0002t0000g0182 a0002c0002t0000g0183 a0002c0002t0000g0185 a0002c0002t0000g0186 a0002c0002t0000g0188 a0002c0002t0000g0189 a0002c0002t0000g0194 a0002c0002t0000g0197 a0002c0002t0000g0200 a0002c0002t0000g0201 a0002c0002t0000g0202 a0002c0002t0000g0271 a0002c0002t0000g0272 a0002c0002t0000g0273 a0003c0004t0000g0076 a0003c0004t0000g0077 a0006c0007t0000g0175 a0006c0007t0000g0187 a0006c0007t0000g0193 a0006c0007t0000g0195 a0006c0007t0000g0204 a0006c0007t0000g0274 a0007c0008t0000g0003 a0007c0008t0000g0075 a0007c0008t0000g0184 a0007c0008t0000g0198 a0007c0008t0000g0199 a0010c0010t0000g0143 a0012c0080t0000g0213 a0025c0023t0000g0320 a0025c0023t0000g0321 a0036c0040t0000g0293 a0040c0031t0000g0234 a0042c0043t0000g0336 a0042c0043t0000g0337 a0048c0051t0000g0052 a0052c0059t0000g0231 a0071c0075t0000g0216 a0082c0108t0000g0292 a0084c0098t0000g0286 a0094c0094t0000g0181	51	346	0.1474	546	c.963 others(563): Show c.963+3549_963+3550insTCACTATCATCACCATCACATCATCACC ATCACCATCATCACCATCATCACCATCATCAACATCATCACCATCACCAT CATAACTATCACCATCATCACCATCATCACCATCACATCATCACCATCAC CATCATCACCATCAATATCATCACCATCAATATCATCACCATCACCATCA TCACCATCACCATCATCACCATCATCACTATCATCACCATCACCATCATC ACCATCATCAGCATCACCATCACCACCACATCATCATCACCATCACCATC ATCACCATTACCATCACATCACCATCATCATCACCACCATCACCATCATC ACCATCACCATCATCACCATCACCATCATCATCACCATCACATCATCACC ATCACCATCATCACCATCACCATCATCACCATCATCACTATCATCACCAT CACCATCATCACCATCATCACCATCATCAACATCATCACCATCATCACCA TCACCATCATCACCATCACCATCATCACCATCATCAACATCATCACCATC ACATCATCACCATCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CACNA1B_chr9_137872782_138129619	138126885	C C	CCCCGGCC others(539): Show CCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGG CCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTG AGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCC ATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGG GGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGC CGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCA GTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAG AGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACA CCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCA AGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAG CAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0010 a0002c0010t0010	a0002c0010t0010g0204 a0002c0010t0010g0204	1	248	0.0040	546	c.48 others(557): Show c.4886_*4887insCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACA CCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAA GGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGC AGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCC CGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCC TGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAG CAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCAT GACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGG CGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCG CCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGT GCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAG GGCCCTGCAGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2267		chr9	TogoVar
CACNA1H_chr16_1148106_1226768	1204952	G G	GGGGCCCC others(539): Show GGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCC AGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGA GGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGACCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19240.hp1 HG02922.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0110 a0002c0002t0002g0085 a0002c0002t0001g0110 a0002c0002t0002g0085	2	338	0.0059	546	c.245 others(563): Show c.2452-159_2452-158insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGTGGGGACCCAGATCAGTGCCGGGGAGGG GTGGGAGCCGCGGGTGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(539): Show ATATATATAATTTTATATATAATTATATATATAATTTTATATATAATTAT ATATATAATTTTATATATAATTATATATATAATTTTATATATATATAATT ATATATATAATTTTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTATATAAT TTTATATATATAATTATATATATTATATAATTATATATATAATTTTATAT ATATATAATTATATATATATATAATTGTATATATAATTATATATATTATA AAATTGTATATATAATTATATATATATAAAATTATATATATAATTATATA TATATATAATTATATATATAAATTATATAATATATAATATATATATATAA AATTATATATATAATTATATATATATAAAATTATATATATATTATATATA TATAAATTATATATATAATTATATATATATAAAATTATATATATAATTTT ATATAATTTTATATATAATTATATATATAATTTTATATATATAATTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0018 a0004c0005t0002g0018	1	330	0.0030	546	c.907 others(561): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAATTTTATATATATATAAT TATATATATAATTTATATATATATAATATATATATAATTTTATATATATA TAATTATATATATAATTTTATATATATATATTATATATTATATAATTTAT ATATATAATTATATATATATATAATTATATATATAATTTTATATATATAT AATTATATATACAATTTTATAATATATATAATTATATATACAATTATATA TATATATAATTATATATATATAAAATTATATATATAATTATATAATATAT ATAATTATATATATAAAATTATATAATATATATAATTATATATATATAAA ATTATATATATAATTATATATATATAAAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATAAAATTATATATATAATTATATATAAAATTATATATATAATTATA TATAAAATTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCTGCCA others(539): Show ACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCAC CTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCAGAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCC TCACCCGCCAGAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTC CTGTCCCCTCACCTGCCACGGCCCACCTTCCCATCCTCACCTGCCACGGC TCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCCATCCTCACCT GCCACGGCCCACCTTCCTGTCCCCTCGCCTGCCACAGCTCACCTTCCTGC CCCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCACAGCTC ACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0083 a0001c0009t0002g0083	1	284	0.0035	546	c.411 others(563): Show c.4112+674_4112+675insCGAGGGGGCAGGAAGGTGGGCTGTGGCA GGCGAGGGGGCAGGAAGGTGAGCTGTGGCAGGCGAGGGGACAGGAAGGTG GGCTGTGGCAGGCGAGGGGGCAGGAAGGTGAGCTGTGGCAGGCGAGGGGA CAGGAAGGTGGGCCGTGGCAGGTGAGGATGGGAAGGTGGGCCGTGGCAGG TGAGGGGACAGGAAGGTGAGCCGTGGCAGGTGAGGATGGGAAGGTGGGCC GTGGCAGGTGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAA GGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGA TGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGT GGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTG AGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGG AAGGTGAGCTGTGGCAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CHMP1A_chr16_89639435_89662708	89647614	T T	TGCGGGGT others(539): Show TGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACAC CCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0165 a0001c0001t0009g0165	1	392	0.0026	546	c.253 others(561): Show c.253-284_253-283insGCTGGGTGTCCACGTCGGCGGCCTTTTCTC CACCGACCCCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCAC TGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGGCGGCCTTT TCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647782	C C	CGCGGGGT others(539): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTTGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCC GCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGT GGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGTGCGGGGTTGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGG GTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTTGGTGGAGAAAAGG CCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGAC GTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGAC CCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03139.hp1 HG03195.hp1 others(1): Show HG02723.hp2 HG03139.hp1 HG03195.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0100 others(1): Show a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0113	4	392	0.0102	546	c.253 others(561): Show c.253-452_253-451insACTGGGTCCCCACGTCGGCGGCCTTTTCTC CACCGACCCCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACC CCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACGGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCAACCCCGCACTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCCACGTCGGCG GCCTTTTCTCCACGGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTC TCCACCAACCCCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGC TGGGTGTCCACGTCGGCGGCCTTTTCTCCACGGACCCCGCGCTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCAACCCCGCACTGGGTCCCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTT TCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647858	A A	AGACCCAG others(539): Show AGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGCAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	392	0.0026	546	c.253 others(561): Show c.253-528_253-527insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTCTCCACGTCGGCGGCCTTTGCTCCACCGACCCCGCGCTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTT TCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACC GACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647901	C C	CACCCAGC others(539): Show CACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGC GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	392	0.0026	546	c.253 others(561): Show c.253-571_253-570insCTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCG CTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTT TTCTCCACCGACCCCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCAC CGACCCCGCGCTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647901	C C	CACCCAGC others(539): Show CACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGC GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTC GGTGGAGCAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGC AAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGCAAAGGCCG CCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	392	0.0026	546	c.253 others(561): Show c.253-571_253-570insCTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCG CTGGGTCTCCACGTCGGCGGCCTTTGCTCCACCGACCCCGCGCTGGGTCT CCACGTCGGCGGCCTTTGCTCCACCGACCCCGCGCTGGGTCTCCACGTCG GCGGCCTTTGCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTT TTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCAC CGACCCCGCGCTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648160	C C	CGCGGGGT others(539): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCC AGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGAC CCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	392	0.0026	546	c.253 others(561): Show c.253-830_253-829insACTGGGTGTCCACGTCGGCGGCCTTTTCTC CACCGACCCCGCACTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACC CCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTC TCCACCGACCCCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTT TCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648236	A A	AGACCCAG others(539): Show AGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAG TGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGACACCCAGTGCGGGGT CGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCG GCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGTGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGG GTCCGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	392	0.0026	546	c.253 others(561): Show c.253-906_253-905insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGGCG GCCTTTTCTCCACGGACCCCGCACTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACGGA CCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTGTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGG CCGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCCGCCTTT TCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACC GACCCCGCACTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648370	C C	CGCGGGGT others(539): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAG AAAAGGCGGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCC AGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGAC CCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	392	0.0026	546	c.252 others(561): Show c.252+980_252+981insACTGGGTCCCCACGTCGGCGGCCTTTTCTC CACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTC CACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTT TCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
COL18A1_chr21_45400165_45518720	45500841	G G	GGTGTGTG others(539): Show GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGG TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTG TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGCTTGGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0098 a0001c0098	a0001c0098t0001 a0001c0098t0001	a0001c0098t0001g0007 a0001c0098t0001g0007	1	292	0.0034	546	c.268 others(565): Show c.2684-3164_2684-3163insGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTTG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG TTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG CTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110219870	G G	GTATATAT others(539): Show GTATATATATGTATATATATGTGTGTATATATGTATATATGTGTGTATAT ATATGTATATATATGTGTGTATATATATGTATATACATATGTGTATATAT GCGTATATATGTATATATATGCGTATATATGTGTATATATGTATATATGT ATATATGTATATATGTGTATATATGTATATATGTGTATATATATGTATAT ATATGTGTGTATATATATGTATATATATGTGTGTATATATATGTATATAT ATGTGTGTATATATATGTATATATATGTGTGTGTATATATGTATATATAT GTGTGTGTATATATATGTATATATATGTGTGTGTATATATGTATATATAT GTGTGTATATATATGTATATATATGTGTGTATATATATGTATATATATGT GTGTATATATATGTATATACATATGTGTATATATGCGTATATATGTATAT ATATGCGTATATATGTGTATATATGTATATATGTGTATATATGTATATAT ATGTATATATGTGTATATGTGTATATATATGTATATATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0081 a0003c0081	a0003c0081t0009 a0003c0081t0009	a0003c0081t0009g0183 a0003c0081t0009g0183	1	344	0.0029	546	c.145 others(563): Show c.145-5856_145-5855insTACACACATATATATACATATATATACA CATATACACATATATACATATATATACATATATACACATATATACATATA TACACATATATACGCATATATATACATATATACGCATATATACACATATG TATATACATATATATACACACATATATATACATATATATACACACATATA TATACATATATATACACACATATATATACATATATACACACACATATATA TACATATATATACACACACATATATATACATATATACACACACATATATA TACATATATATACACACATATATATACATATATATACACACATATATATA CATATATATACACACATATATATACATATATATACACATATATACATATA TACACATATATACATATATACATATATACATATATACACATATATACGCA TATATATACATATATACGCATATATACACATATGTATATACATATATATA CACACATATATATACATATATATACACACATATATACATATATACACACA TATATATACATATATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
CROCC2_chr2_240901336_240998311	240924947	G G	GTCCCCAC others(539): Show GTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAAC CCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACT AACCCGGCCCCCCACACTAACCCAGCCCCCAACACTAACCCGGCCCCCCA CACTAACCCGGCCCCCAACACTAACCCGGCCCCCACACTAACCCAGCCCC CCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGT CCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCA GCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACC CAGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTGAC CCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACT AACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGCCCCCCACACTATCCCGGCCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0048 a0048	a0048c0066 a0048c0066	a0048c0066t0002 a0048c0066t0002	a0048c0066t0002g0269 a0048c0066t0002g0269	1	350	0.0029	546	c.489 others(561): Show c.489-777_489-776insTCCCCACACTAACCCAGCCCCCCACACTAA CCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACAC TAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCA ACACTAACCCGGCCCCCCACACTAACCCGGCCCCCAACACTAACCCGGCC CCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCGG CCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACC CAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAA CCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCACACTA ACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCA CACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGCCC CCCACACTAACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CTU2_chr16_88701503_88720396	88712911	G G	GCCCTGAG others(539): Show GCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAG AGCCCCCCTTCCCCAGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCT GACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTC ATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 NA18612.hp2 others(4): Show HG03490.hp1 HG03492.hp1 NA18612.hp2 NA18747.hp2 NA18980.hp2 NA19064.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	7	418	0.0168	546	c.737 others(558): Show c.737+9_737+10insTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCCTTCCCCAGGCCCTGACCCCCACTCATGCC CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGA GCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGAC CCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCGAGA GCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATGCCCC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(539): Show CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCC CCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTCACCCGC ACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0056 a0001c0001t0011g0056	1	320	0.0031	546	c.39 others(557): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGGTGCGGG TGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTG CGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG CGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875254	C C	CCACCCCC others(539): Show CCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCGCACCCCCACCCGCACCGGCACCCCCACCCCCACCCCCAC CCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCC CCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCGCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCAC CCCCACCCGCACCCCCACCCCCACCCGCACCCGCACCCGCACCCGCACCC CCACCCGCACCCCCACCCCCACCCCGACCCCCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCGCACACCCACCCCCACCCCCACCCGCACCCGCAC CCGCACCCCCACCCGCACCCGCACCCGCACCCCCACCCCCACCCCCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCC ACCCTCACCCCCACCCCCACCCCCACCCTCACCCGCACCCGCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0021 a0021	a0021c0055 a0021c0055	a0021c0055t0001 a0021c0055t0001	a0021c0055t0001g0157 a0021c0055t0001g0157	1	320	0.0031	546	c.39 others(557): Show c.3978_*3979insAGGGTGCGGGTGCGGGTGAGGGTGGGGGTGGGGG TGGGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTGCGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCG GGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGTGTGCGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTCGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGCGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGG GGTGCGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGG TGCGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTG AGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2488		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(539): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCC CCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCC ACCTCCACCCCCACCCGCACCCGCACCCCCCCCCCCACCCGCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCCCCACCCCCACCC GCACCCCCACCCCCACCCTCACCCCCACCCTCACCCGCACCCGCACCCCC ACCCTCACCCCCACCCTCACCCCCACCCTCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0206 a0002c0002t0001g0206	1	320	0.0031	546	c.39 others(557): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGGGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTG GGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DOCK8_chr9_209865_470255	400563	T T	TCACCACC others(539): Show TCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCC ACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTC CACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCACCA CCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACC ACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCAC CACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCATCA CCACCACCTCCACCACCACCTCCACCACCAGCACTTCCACCACCACCATC ACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCACCACCTC CACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACGT CCACCATCACCACCATCACCTCCACCACCACCACCACCACCACCACCTCC ACCACCACCACCACCTCCACCACCACCACCACCACCTCCACCACCAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0004 a0004	a0004c0042 a0004c0042	a0004c0042t0002 a0004c0042t0002	a0004c0042t0002g0197 a0004c0042t0002g0197	1	256	0.0039	546	c.323 others(565): Show c.3234+1314_3234+1315insTCCACCATCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCA CCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACC ATCACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCAC CTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCA CCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACC ACCTCCACCATCACCACCACCTCCACCACCACCTCCACCACCAGCACTTC CACCACCACCATCACCACCACCTCCACCACCACCACCTCCACCACCACCA CCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACC ACCACCACCACGTCCACCATCACCACCATCACCTCCACCACCACCACCAC CACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCACCT CCACCACCACCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89634528	C C	CCCCTTCC others(539): Show CCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTCT CCTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCTTC CTTTCCCTTCCTTCCCTTTCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCCTTCTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCTT CCCTTCCTTCTCCTTTCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	250	0.0040	546	c.105 others(563): Show c.105-1370_105-1369insCCTTTCCCCTTCCTTCCCTTTCCCCTTC CTTCTCCTTCTCCTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCCTTCCTTTCCCTTCCTTCCCTTTCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCCTTCTCTCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCTTCCCTTCCTTCTCCTTTCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGGT others(539): Show GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0248 a0001c0004t0001g0248	1	288	0.0035	546	c.190 others(565): Show c.1909+7364_1909+7365insATGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC2_chr6_480154_698139	519116	A A	AAACCACC others(539): Show AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCAACACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCAACACCCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0115 a0001c0001t0006g0115	1	272	0.0037	546	c.238 others(567): Show c.2380+13352_2380+13353insCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT AGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTTTTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519116	A A	AAACCACC others(539): Show AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCAACACCCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG02738.hp2 others(1): Show HG00280.hp1 HG01070.hp1 HG02738.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0016 a0001c0001t0001g0125 a0001c0001t0001g0126 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0013t0001g0127	4	272	0.0147	546	c.238 others(567): Show c.2380+13352_2380+13353insCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT AGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTTTTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519116	A A	AAACCACC others(539): Show AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCAACACCCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01517.hp2 HG02074.hp2 others(4): Show HG00140.hp1 HG01517.hp2 HG02074.hp2 HG03834.hp1 NA18955.hp2 NA18968.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0177 others(4): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0002g0004 a0001c0001t0004g0140 a0001c0001t0004g0141	7	272	0.0257	546	c.238 others(567): Show c.2380+13352_2380+13353insCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT AGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTTTTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FSHR_chr2_48957157_49159515	48973387	T T	TGAGCTGA others(539): Show TGAGCTGACATTGCATGGATCAGGGCCAGCCATCCAAATGTCTGACACAA AATTGTGAGCAAAATGGAATGGTTGTTTTAAGCCATTAAATTTTAATGAG GCAATAGAGAACCAAAACAAACTCCACTGAGGTCTCCATAATGTTTAACA GTTGAAGAAGTATTTTTCCCTTGAAAACCAGTAAGAGTGCGATAGCATTA TAGTCTGTATACTTTCTGCCTCTTTTACCACTGACTATCTTTTGCTTTAT GTACTAGCTATTTGTATTTTATCTCTCCTTGAAGGTAGAAGGCTCTCGCA TTCTCAGCGGTGCCTTTCATGTAGTGAGTACCCAGAAACTTATTGCTTTG TTAGAAGATATACTGGGGAGTGACATTGGAGAAGGATTAGGAAAGGAAAT AGACAGATCACCCCAGCCAACTGTGATGTTCTCCGACTTCCAGAAATTGC AGAATATTGCACCTTGTGTTATGTCTTCTATTGTTTCCTATGGTTGTCTT TTCATGTATGTTTGTTTGTCTCCTCAGCCAGATTTCAAGTGCCCTGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02886.hp2 HG02970.hp1 others(3): Show HG02486.hp2 HG02886.hp2 HG02970.hp1 HG03209.hp2 NA19030.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0166 a0003c0003t0001g0168 a0003c0003t0001g0235 others(3): Show a0003c0003t0001g0166 a0003c0003t0001g0168 a0003c0003t0001g0235 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0015	6	350	0.0171	546	c.669 others(563): Show c.669-4505_669-4504insTCAGGGCACTTGAAATCTGGCTGAGGAG ACAAACAAACATACATGAAAAGACAACCATAGGAAACAATAGAAGACATA ACACAAGGTGCAATATTCTGCAATTTCTGGAAGTCGGAGAACATCACAGT TGGCTGGGGTGATCTGTCTATTTCCTTTCCTAATCCTTCTCCAATGTCAC TCCCCAGTATATCTTCTAACAAAGCAATAAGTTTCTGGGTACTCACTACA TGAAAGGCACCGCTGAGAATGCGAGAGCCTTCTACCTTCAAGGAGAGATA AAATACAAATAGCTAGTACATAAAGCAAAAGATAGTCAGTGGTAAAAGAG GCAGAAAGTATACAGACTATAATGCTATCGCACTCTTACTGGTTTTCAAG GGAAAAATACTTCTTCAACTGTTAAACATTATGGAGACCTCAGTGGAGTT TGTTTTGGTTCTCTATTGCCTCATTAAAATTTAATGGCTTAAAACAACCA TTCCATTTTGCTCACAATTTTGTGTCAGACATTTGGATGGCTGGCCCTGA TCCATGCAATGTCAGCTC	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	8/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	48973387	T T	TGAGCTGA others(539): Show TGAGCTGACATTGCATGGATCAGGGCCAGCCATCCAAATGTCTGACACAA AATTGTGAGCAAAATGGAATGGTTGTTTTAAGCCATTAAATTTTAATGAG GCAATAGAGAACCAAAACAAACTCCACTGAGGTCTCCATAATGTTTAACA GTTGAAGAAGTATTTTTTCCTTGAAAACCAGTAAGAGTGCGATAGCATTA TAGTCTGTATACTTTCTGCCTCTTTTACCACTGACTATCTTTTGCTTTAT GTACTAGCTATTTGTATTTTATCTCTCCTTGAAGGTAGAAGGCTCTCGCA TTCTCAGCGGTGCCTTTCATGTAGTGAGTACCCAGAAACTTATTGCTTTG TTAGAAGATATACTGGGGAGTGACATTGGAGAAGGATTAGGAAAGGAAAT AGACAGATCACCCCAGCCAACTGTGATGTTCTCCGACTTCCAGAAATTGC AGAATATTGCACCTTGTGTTATGTCTTCTATTGTTTCCTATGGTTGTCTT TTCATGTATGTTTGTTTGTCTCCTCAGCCAGATTTCAAGTGCCCTGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp1 HG03195.hp1 HG01891.hp2 HG02896.hp1 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0145 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0145	3	350	0.0086	546	c.669 others(563): Show c.669-4505_669-4504insTCAGGGCACTTGAAATCTGGCTGAGGAG ACAAACAAACATACATGAAAAGACAACCATAGGAAACAATAGAAGACATA ACACAAGGTGCAATATTCTGCAATTTCTGGAAGTCGGAGAACATCACAGT TGGCTGGGGTGATCTGTCTATTTCCTTTCCTAATCCTTCTCCAATGTCAC TCCCCAGTATATCTTCTAACAAAGCAATAAGTTTCTGGGTACTCACTACA TGAAAGGCACCGCTGAGAATGCGAGAGCCTTCTACCTTCAAGGAGAGATA AAATACAAATAGCTAGTACATAAAGCAAAAGATAGTCAGTGGTAAAAGAG GCAGAAAGTATACAGACTATAATGCTATCGCACTCTTACTGGTTTTCAAG GAAAAAATACTTCTTCAACTGTTAAACATTATGGAGACCTCAGTGGAGTT TGTTTTGGTTCTCTATTGCCTCATTAAAATTTAATGGCTTAAAACAACCA TTCCATTTTGCTCACAATTTTGTGTCAGACATTTGGATGGCTGGCCCTGA TCCATGCAATGTCAGCTC	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	8/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	48973387	T T	TGAGCTGA others(539): Show TGAGCTGACATTGCATGGATCAGTGCCAGCCATCCAAATGTCTGACACAA AATTGTGAGCAAAATGGAATGGTTGTTTTAAGCCATTAAATTTTAATGAG GCAATAGAGAACCAAAACAAACTCCACTGAGGTCTCCATAATGTTTAACA GTTGAAGAAGTATTTTTTCCTTGAAAACCAGTAAGAGTGCGATAGCATTA TAGTCTGTATACTTTCTGCCTCTTTTACCACTGACTATCTTTTGCTTTAT GTACTAGCTATTTGTATTTTATCTCTCCTTGAAGGTAGAAGGCTCTCGCA TTCTCAGCGGTGCCTTTCATGTAGTGAGTACCCAGAAACTTATTGCTTTG TTAGAAGATATACTGGGGAGTGACATTGGAGAAGGATTAGGAAAGGAAAT AGACAGATCACCCCAGCCAACTGTGATGTTCTCCGACTTCCAGAAATTGC AGAATATTGCACCTTGTGTTATGTCTTCTATTGTTTCCTATGGTTGTCTT TTCATGTATGTTTGTTTGTCTCCTCAGCCAGATTTCAAGTGCCCTGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp2 HG02451.hp2 HG01243.hp2 HG02257.hp2 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0164 a0003c0003t0001g0272 a0003c0003t0001g0288 a0003c0003t0001g0164 a0003c0003t0001g0272 a0003c0003t0001g0288	3	350	0.0086	546	c.669 others(563): Show c.669-4505_669-4504insTCAGGGCACTTGAAATCTGGCTGAGGAG ACAAACAAACATACATGAAAAGACAACCATAGGAAACAATAGAAGACATA ACACAAGGTGCAATATTCTGCAATTTCTGGAAGTCGGAGAACATCACAGT TGGCTGGGGTGATCTGTCTATTTCCTTTCCTAATCCTTCTCCAATGTCAC TCCCCAGTATATCTTCTAACAAAGCAATAAGTTTCTGGGTACTCACTACA TGAAAGGCACCGCTGAGAATGCGAGAGCCTTCTACCTTCAAGGAGAGATA AAATACAAATAGCTAGTACATAAAGCAAAAGATAGTCAGTGGTAAAAGAG GCAGAAAGTATACAGACTATAATGCTATCGCACTCTTACTGGTTTTCAAG GAAAAAATACTTCTTCAACTGTTAAACATTATGGAGACCTCAGTGGAGTT TGTTTTGGTTCTCTATTGCCTCATTAAAATTTAATGGCTTAAAACAACCA TTCCATTTTGCTCACAATTTTGTGTCAGACATTTGGATGGCTGGCACTGA TCCATGCAATGTCAGCTC	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	8/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	48973790	C C	CAGATCAC others(539): Show CAGATCACCCCAGCCAACTGTGATGTTCTCCGACTTCCAGAAATTGCAGA ATATTGCACCTTGTGTTATGTCTTCTATTGTTTCCTATGGTTGTCTTTTC ATGTATGTTTGTTTGTCTCCTAAGCCAGATTTCAAGTGCCCTGAGAGCTG ACATTGCATGGATCAGGGCCAGCCATCCAAATGTCTGACACAAAATTGTG AGCAAAATGGAATGGTTGTTTTAAGCCATTAAATTTTAATGAGGCAATAG AGAACCAAAACAAACTCCACTGAGGTCTCCATAATGTTTAACAGTTGAAG AAGTATTTTTTCCTTGAAAACCAGTAAGAGTGCGATAGCATTATAGTCTG TATACTTTCTGCCTCTTTTACCACTGACTATCTTTTGCTTTATGTACTAG CTATTTGTATTTTATCTCTCCTTGAAGGTAGAAGGCTCTCGCATTCTCAG CGGTGCCTTTCATGTAGTGAGTACCCAGAAACTTATTGCTTTGTTAGAAG ATATACTGGGGAGTGACATTGGAGAAGGATTAGGAAAGGAAATAGAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0173	1	350	0.0029	546	c.669 others(563): Show c.669-4908_669-4907insATCTATTTCCTTTCCTAATCCTTCTCCA ATGTCACTCCCCAGTATATCTTCTAACAAAGCAATAAGTTTCTGGGTACT CACTACATGAAAGGCACCGCTGAGAATGCGAGAGCCTTCTACCTTCAAGG AGAGATAAAATACAAATAGCTAGTACATAAAGCAAAAGATAGTCAGTGGT AAAAGAGGCAGAAAGTATACAGACTATAATGCTATCGCACTCTTACTGGT TTTCAAGGAAAAAATACTTCTTCAACTGTTAAACATTATGGAGACCTCAG TGGAGTTTGTTTTGGTTCTCTATTGCCTCATTAAAATTTAATGGCTTAAA ACAACCATTCCATTTTGCTCACAATTTTGTGTCAGACATTTGGATGGCTG GCCCTGATCCATGCAATGTCAGCTCTCAGGGCACTTGAAATCTGGCTTAG GAGACAAACAAACATACATGAAAAGACAACCATAGGAAACAATAGAAGAC ATAACACAAGGTGCAATATTCTGCAATTTCTGGAAGTCGGAGAACATCAC AGTTGGCTGGGGTGATCT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	8/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	48973790	C C	CAGATCAC others(539): Show CAGATCACCCCAGCCAACTGTGATGTTCTCCGACTTCCAGAAATTGCAGA ATATTGCACCTTGTGTTATGTCTTCTATTGTTTCCTATGGTTGTCTTTTC ATGTATGTTTGTTTGTCTCCTCAGCCAGATTTCAAGTGCCCTGAGAGCTG ACATTGCATGGATCAGGGCCAGCCATCCAAATGTCTGACACAAAATTGTG AGCAAAATGGAATGGTTGTTTTAAGCCATTAAATTTTAATGAGGCAATAG AGAACCAAAACAAACTCCACTGAGGTCTCCATAATGTTTAACAGTTGAAG AAGTATTTTTTCCTTGAAAACCAGTAAGAGTGCGATAGCATTATAGTCTG TATACTTTCTGCCTCTTTTACCACTGACTATCTTTTGCTTTATGTACTAG CTATTTGTATTTTATCTCTCCTTGAAGGTAGAAGGCTCTCGCATTCTCAG CGGTGCCTTTCATGTAGTGAGTACCCAGAAACTTATTGCTTTGTTAGAAG ATATACTGGGGAGTGACATTGGAGAAGGATTAGGAAAGGAAATAGAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02976.hp1 HG03486.hp1 HG02258.hp2 HG02976.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0269 a0002c0002t0002g0004 a0002c0002t0002g0012 a0002c0002t0001g0269 a0002c0002t0002g0004 a0002c0002t0002g0012	3	350	0.0086	546	c.669 others(563): Show c.669-4908_669-4907insATCTATTTCCTTTCCTAATCCTTCTCCA ATGTCACTCCCCAGTATATCTTCTAACAAAGCAATAAGTTTCTGGGTACT CACTACATGAAAGGCACCGCTGAGAATGCGAGAGCCTTCTACCTTCAAGG AGAGATAAAATACAAATAGCTAGTACATAAAGCAAAAGATAGTCAGTGGT AAAAGAGGCAGAAAGTATACAGACTATAATGCTATCGCACTCTTACTGGT TTTCAAGGAAAAAATACTTCTTCAACTGTTAAACATTATGGAGACCTCAG TGGAGTTTGTTTTGGTTCTCTATTGCCTCATTAAAATTTAATGGCTTAAA ACAACCATTCCATTTTGCTCACAATTTTGTGTCAGACATTTGGATGGCTG GCCCTGATCCATGCAATGTCAGCTCTCAGGGCACTTGAAATCTGGCTGAG GAGACAAACAAACATACATGAAAAGACAACCATAGGAAACAATAGAAGAC ATAACACAAGGTGCAATATTCTGCAATTTCTGGAAGTCGGAGAACATCAC AGTTGGCTGGGGTGATCT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	8/9			chr2	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(539): Show TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTCCCTCCTCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCC TCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCT CTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCA CTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0115 a0001c0115	a0001c0115t0004 a0001c0115t0004	a0001c0115t0004g0062 a0001c0115t0004g0062	1	408	0.0025	546	c.633 others(563): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTTCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(539): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGAC GCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCT CTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACG CCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0353 a0002c0004t0006g0353	1	408	0.0025	546	c.633 others(563): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCC ACTCCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(539): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC AGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCG GGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGG GGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCT CAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGC AGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCGG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0086 a0001c0003t0001g0086	1	282	0.0036	546	c.623 others(563): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGC AGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGG TGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGC TCGGGAGGGGAGGCGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163304	C C	CCCTCCCT others(539): Show CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGACCCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCC CTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGA ACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCC CCTCCCTCCACAGAACCGGACCCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0004 a0004c0011t0004	a0004c0011t0004g0159 a0004c0011t0004g0159	1	282	0.0036	546	c.258 others(563): Show c.2584-170_2584-169insGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGACCCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCC CCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAG AACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC CCCTCCCTCCACAGAACCGGACCCCCTCCCCTCCCCTCCCTCCACAGAAC CGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCC TCCCTCCACAGAACCGGA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(539): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCCACAGCCGCCC CCACAGCCACCCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGC CACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCCACAGCCACCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCC CCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACC CCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCA CCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCCGCCCCC CCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	312	0.0032	546	c.-41 others(561): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCCACAGCCGCC CCCACAGCCACCCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAG CCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCCACAGCCACCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCC CCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCAC CCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCC ACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCA CAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCCGCCCC CCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGC CCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIAA0930_chr22_45187244_45245894	45229126	C C	CCAACCAC others(539): Show CCAACCACCAAACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACC AAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCC GAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCCGAGAGATCC CTCTCCACCCCCCAACCACTCACCTGAGAGATCCCTCTCCACCCCCCCAC CAAACACTCACCCGAGAGATCCCTCTCCACCCCGCAACCACCAAACACTC ACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATC CCTCCCCATCCCCCCCACCACCAAACACTCACCCGAGAGATCCCTCTCCA CCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCA TCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTC ACCCGAGAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAGATCCCTC TCCACCCCCCCACCAAACACTCACCCGAGAGATCCCTCTCCACCCCG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0344 a0001c0001t0080g0344	1	398	0.0025	546	c.64+ others(563): Show c.64+11513_64+11514insCGGGGTGGAGAGGGATCTCTCGGGTGAG TGTTTGGTGGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGT GGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGA TCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGA GTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGT GGTGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGT GGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGCGGGGTGGAGAGGGA TCTCTCGGGTGAGTGTTTGGTGGGGGGGTGGAGAGGGATCTCTCAGGTGA GTGGTTGGGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGG GGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGG ATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCGG GTGAGTGTTTGGTGGTTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF1A_chr2_240708767_240825219	240781047	A A	ACACACAG others(539): Show ACACACAGCTCCACACACACACACCTCCACACACACACACACACACAGCT CCACACACAGCTCCACACACACACACAGCTCCACACACACACACACACAC AGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACAC ACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACAC ACACACACACAGCTCCACACACACACACACAGCTCCACACACACACAGCT CCACACACACACACACACAGCTCCACACACACACACAGCTCCACACACAC ACACACCTCCACACACACACACACACACAGCTCCACACACAGCTCCACAC ACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACCT CCACACACACACACACACAGCTCCACACACAGCTCCACACACACACACAG CTCCACACACACACACACACACAGCTCCCCACACACACACAGCTCCACAC ACACACACACAGCTCCACACACACACACAGCTCCACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0002 a0001c0004t0004g0002	1	330	0.0030	546	c.882 others(563): Show c.882+1542_882+1543insGAGCTGTGTGTGTGGAGCTGTGTGTGTG TGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGGGAGCTGTG TGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGGAGC TGTGTGTGTGTGTGTGTGGAGGTGTGTGTGTGTGGAGCTGTGTGTGTGTG TGGAGCTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGGAGCTGTGTGTGTG TGTGTGTGTGGAGGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTG TGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTG TGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTG TGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGGAGCTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGGAGGTGTG TGTGTGTGGAGCTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(539): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGG GGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0112 a0001c0001t0007g0112	1	375	0.0027	546	c.317 others(563): Show c.317+1447_317+1448insCGCTGCGGGGGGGGCGGGAACGGCGCTG CGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGG GGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCT GCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGG GGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGGGAACGGCGCTGC GGGGGGGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA5_chr20_62304065_62372312	62360519	G G	GTGGAGGG others(539): Show GTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTGGGT GGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGGGTGGGTGG GTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGT GGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAG ATGGGTGGGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGGTGGGT GGAGGGATAGATGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGG GTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGAT GGGGGGGTGGGTGGGTGGAGGGATAGATGGGTGGATGGGTGGGTAGAAGG ATAGGTAGGTGGGTGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGT GGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGGTGGAGGGATAGAT GGGTGGATGGGTGGGTAGAAGGATAGGTAGGTGGGTGGGTGGGTGGA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0080 a0080	a0080c0128 a0080c0128	a0080c0128t0001 a0080c0128t0001	a0080c0128t0001g0026 a0080c0128t0001g0026	1	186	0.0054	546	c.450 others(563): Show c.450+1880_450+1881insTCCACCCACCCACCCACCTACCTATCCT TCTACCCACCCATCCACCCATCTATCCCTCCACCCACCCACCACCCATCT ATCCCTCCACCCACCCACCACCCATCTATCCCTCCACCCACCCATCCACC CACCCACCCACCTACCTATCCTTCTACCCACCCATCCACCCATCTATCCC TCCACCCACCCACCCCCCCATCTATTCCTCCACCCACCCACCCACCTATC CATCCACCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCATCCA CCCACCCATCTATCCCTCCACCCACCCATCCACCCACCCATCTATCCCTC CACCCACCCACCCACCCATCTATTCCTCCACCCACCCACCCACCTATCCA TCCACCCACCCACCCACCCACCCATCTATTCCTCCACCCACCCACCCACC TATCCATCCACCCACCCACCCACCCACCCATCTATTCCTCCACCCACCCA TCCACCTATCCATCCACCCACCCACCCACCTACCTATCCTTCTACCCACC CACCCATCTATCCCTCCA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(539): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATAATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATATATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATAATACATTTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAATAGTATTATAATATATAATATAT TATATATAATTATATTATAACTTATTATATATAATTATATTATAGATCAT AATCTATAATATAATTATATATAATATGTTATAATATATAATTATATTCT ATATATAATTATATATAATATAATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	288	0.0069	546	c.-32 others(557): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATATATTATATAATATATAATATAATTATATAT TATATAATATGTTTAATATAATTATATATTATATAATTATATTATATATT ATATTATAATTATATAATATATAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATATTATATAATTATATTATATATTATATA TAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(539): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATATATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATAATACATTTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAATAGTATTATAATATATAATATAT TATATATAATTATATTATAACTTATTATATATAATTATATTATAGATCAT AATCTATAATATAATTATATATAATATGTTATAATATATAATTATATTCT ATATATAATTATATATAATATAATTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	546	c.-32 others(557): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATATATTATATAATATATAATATAATTATATAT TATATAATATGTTTAATATAATTATATATAATATAATTATATTATATATT ATATTATAATTATATAATATATAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATATTATATAATTATATTATATATTATATA TAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(539): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATATATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATAATACATTTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAATAGTATTATAATATATAATATAT TATATATAATTATATTATAACTTATTATATATAATTATATTATAGATCAT AATCTATAATATAATTATATATAATATGTTATAATATATAATTATATTCT ATATATAATTATATATAATATAATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG01192.hp1 others(21): Show HG00639.hp2 HG00733.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01517.hp2 HG02004.hp1 HG02738.hp2 HG03704.hp1 HG03834.hp2 NA18612.hp1 NA18942.hp2 NA18945.hp1 NA18952.hp2 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA19010.hp2 NA19070.hp1 NA19078.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0012 a0002c0002t0001g0008 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0002c0002t0001g0008 a0002c0002t0003g0029	24	288	0.0833	546	c.-32 others(557): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATATATTATATAATATATAATATAATTATATAT TATATAATATGTTTAATATAATTATATATAATATAATTATATTATATATT ATATTATAATTATATAATATATAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATATTATATAATTATATTATATATTATATA TAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(539): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATCTATAATTATATTATAGATTATATAAT ATATAATTATATTATATATTATAATACATTTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAATAGTATTATAATATATAATATAT TATATATAATTATATTATAACTTATTATATATAATTATATTATAGATCAT AATCTATAATATAATTATATATAATATGTTATAATATATAATTATATTCT ATATATAATTATATATAATATAATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	288	0.0035	546	c.-32 others(557): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATCTATAATATAATTATAGATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATATATTATATAATATATAATATAATTATATAT TATATAATATGTTTAATATAATTATATATAATATAATTATATTATATATT ATATTATAATTATATAATATATAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATATTATATAATTATATTATATATTATATA TAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(539): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATCTATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATAATACATTTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAATAGTATTATAATATATAATATAT TATATATAATTATATTATAACTTATTATATATAATTATATTATAGATCAT AATCTATAATATAATTATATATAATATGTTATAATATATAATTATATTCT ATATATAATTATATATAATATAATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp2 NA18970.hp2 others(1): Show HG03490.hp1 HG03492.hp2 NA18970.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	288	0.0139	546	c.-32 others(557): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATAGATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATATATTATATAATATATAATATAATTATATAT TATATAATATGTTTAATATAATTATATATAATATAATTATATTATATATT ATATTATAATTATATAATATATAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATATTATATAATTATATTATATATTATATA TAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar

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