Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

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)

Samplehapid

No_hapid

No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MSI2_chr17_57251523_57689689	57509673	GGCCTCCC others(1000): Show GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCTGG TTGCTTGCTTTTTGCTCCTTCTTCAACTCCAAACCCAAGGCATTGCCAAG CAAATGCAGTCCCCCCATGATTAATTCAGTTGTCTCTACCACATGACACC TTCACAAGGTCTTTTCTGCTTTTTCAAAACTTTCCCATCCTTTACGATTA GTGTCATTCCTGAAGATTTTTGGCCAAATGGCAGTTTCTCCATTCCTTCT GTTGTAGCACCTGATTGTGCCACAATCAGTCACTGCATTTGCCCATTGGT TTAAATGTCTGTTTCAGCTTGCCTCTTCACCTGGGGCATGGGAGGCAGAA AGGGTGCATTTTTCATGTGTGCTGGGCCTGCCACGTATTTGTTGTCAGTT TGTTCTTAATTGCGCTGTTTGTCACACCACCGTTCTGCCCCACGAGGTTT CCCCATCTACTCCTTCCTCTGTCTTGGTCCCATAGGACTTTCAGCCTTTT GTGTGGCTGGGTTTTCTGCAGGCCTCTTTGGGGGCTGGTATGGATGGCCT TGGGTGGGGAGGGTGCCTGGGCCCCTGAGGCCCTCTTGATGAGGTGGGAT GTTGTGAATGGTGGCCCCATCCCCAGGGAGCCCTCTCGTTTCTTCCTACC CTGATATTTTATAACAAGATGCTCATAAGCCTTTGGTTCCACTGGCGTGA GCTCCTAAATAATGTTGCACTCCTCTTGTTTTTTTTTTTGTTTGTTTGTT TGTTTTGTCTTTTGTTTTTCTGGAGACAGAGTTTTGCTCTTGTCGCCCAA GCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGG GTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGT GTGTGCCACCACGCCCGGCTAATTTCTGTATTATTAGTAGAGACAGGGTT TCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCAC CCACCTCT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02896.hp2 HG03139.hp2 HG01884.hp2 HG02896.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0056 a0001c0001t0006 a0001c0001t0056	a0001c0001t0006g0022 a0001c0001t0006g0128 a0001c0001t0056g0020 a0001c0001t0006g0022 a0001c0001t0006g0128 a0001c0001t0056g0020	3	168	0.0179	-1007	c.406 others(19): Show c.406-19964_406-18958del		MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
NOC4L_chr12_132139457_132157468	132149573	ACTCACAC others(1000): Show ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	294	0.0034	-1007	c.901 others(15): Show c.901+683_902-397del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149740	GGCCGCCT others(1000): Show GGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCC	G G	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	294	0.0034	-1007	c.901 others(15): Show c.901+863_902-217del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NPIPB11_chr16_29376310_29411711	29382620	GGAAGGTG others(1000): Show GGAAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCCGCA GACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAG GGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATC GGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCGGAAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCCG CAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTG AGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCA TCCGCTGACGGTGGAAGCGGAACCCGCAGATGCTCAGCAGGTATCTTGAT ATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGAC GCTCGGAAGGTCTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGAACT GCAGATGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCT GAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATC ATCCGCTGAGGGTGGAAGCGGCCCCCGCAGATGCTCGGCAGTTGTCTTGA TATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGA CGCTCAGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCC CCGCAGATGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAG CTGAGGGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATTA TCATCGGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTT GATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCT GACGCTCA	G G	frameshift_variant frameshift_variant	HIGH	NA18962.hp1 NA18962.hp1	a0094 a0094	a0094c0070 a0094c0070	a0094c0070t0001 a0094c0070t0001	a0094c0070t0001g0080 a0094c0070t0001g0080	1	428	0.0023	-1007	c.130 others(9): Show c.1305_2311del	p.His others(5): Show p.His502fs	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	5058/6369	1305/3486	435/1161			chr16	TogoVar
DPH7_chr9_137549444_137583925	137567400	ACTCTGTC others(999): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTG TCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	340	0.0029	-1006	c.641 others(17): Show c.641-3252_641-2247del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
PXDN_chr2_1626887_1749515	1710528	TCTACGAA others(999): Show TCTACGAACACCCACTCCACCAGCACCCACTCTCCACCAGCACCCTCTCC ACTAGCACCCTCTCCACCAGCACCCACTCTCCACCAGCACCCACTCTCCA CCAGCACCCACTCTATGAACACCCACTCTCCACCAGCACCCGCTCTACCA GCACCCACTCTATGAACACCCACTCTCCACCAGCACCCACTCCACCAGCA CCCTCTCCACCAGCACCCACTCCACCAGCACCCACTCCACCAGCACCCAC TCTCCACCAGCACCCACTCCACCAGCACCCACTCCACCAGCACCCACTCT CCACCAGCACCCACTCCACCAGCACCCACTCCACCAGCACCCACTCTCCA CCAGCACCTGCTCCACCAGCACCCACTCTCCACCAGCACCCACTCCACCA GCACCCACTCTATGAACACCCGCTCCACCAGTACCCACTCTCCACCAGCA CCCGCTCCACCAGCACCCACTCCACCAGCACCCACTCTCCACCAGCACCC ACTCCACCAGCATCCACTCTACCAGCACCCGCTCCACAAGCACCCACTCT CCACCAGCACCCACTCTCCACTAGCACCCACTCCACCAGCACCCACTCTC CACCAGCACCCACTCTCCACCAGCACCCGCTCCACCAGCACCCACTCTCC ACCAGCACCCGCTCCACCAGCACCCGCTCCACCAGCACCCACTCTCCACC AGCACCCACTCCACCAGCATCCACTCTACCAGCACCCGCTCCACCAGCAC CCACTCTCCACCAGCACCCACTCTCCACCAGCACCCGCTCCACCAGCACC CGCTCCACCAGCACCCACTCTCCACCAGCACCCGCTCCACCAGCATCCAC TCTACCAGCACCCGCTCCACAAGCACCCACTCTCCACCAGCACCCACTCT CCACTAGCACCCACTCCACCAGCACCCACTCTCCACCAGCACCCGCTCCA CCAGCACCCGCTCCACCAGCACCCACTCTCCACCAGCACCCACTCCACCA GCATCCA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG06807.hp1 NA21309.hp1 HG02647.hp2 HG06807.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0002 a0001c0007t0006 a0001c0001t0001 a0001c0002t0002 a0001c0007t0006	a0001c0001t0001g0078 a0001c0002t0002g0077 a0001c0007t0006g0076 a0001c0001t0001g0078 a0001c0002t0002g0077 a0001c0007t0006g0076	3	322	0.0093	-1006	c.201 others(19): Show c.201-18400_201-17395del		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
ZNF516_chr18_76352682_76500242	76393227	GGGGAGGG others(999): Show GGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG GGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAG GTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTG GTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTG GGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0286 a0001c0001t0010g0286	1	346	0.0029	-1006	c.181 others(21): Show c.1811-13930_1811-12925del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393232	GGGCAGGT others(999): Show GGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGG AAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAG CCGGGAA	G G	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0160 a0001c0001t0160	a0001c0001t0160g0136 a0001c0001t0160g0136	1	346	0.0029	-1006	c.181 others(21): Show c.1811-13935_1811-12930del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
GALNT9_chr12_132191372_132334589	132231783	GTGCTACA others(998): Show GTGCTACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGG GGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGG TGACAGGGACAGCGTGGAGCCCCTAGTGCTACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGTGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG TGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTG GAGTCCCTACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGT CCCTAC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0066 a0001c0002t0005g0066	1	183	0.0055	-1005	c.107 others(21): Show c.1077+15122_1077+16126del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
MUC4_chr3_195741771_195816929	195775620	TCATACCT others(998): Show TCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATA CCTTCCACACCGATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACATCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACGGCCATA CCTTCCACGGTCATACCTTCCACACCCATACCTTCCACGGCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACATCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTC CACATCCATACCTTCCACGGCCATAACTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTTA CCTTCCACACCCATACCTTCCACAGCCATACCTTCCACACCCATACCTTC CACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAT CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAG CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTC CACACCCATACCTTCCGCATCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCGCACCCATACCTTCCACACCCATACCTTCCGCACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0097 a0097	a0097c0129 a0097c0129	a0097c0129t0002 a0097c0129t0002	a0097c0129t0002g0188 a0097c0129t0002g0188	1	249	0.0040	-1005	c.129 others(21): Show c.12943+1678_12944-1316del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
NEU4_chr2_241804193_241822413	241806645	ACCCTCCC others(998): Show ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGG GACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	319	0.0031	-1005	c.-26 others(11): Show c.-2632_-1628del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2547		chr2	TogoVar
PAQR5_chr15_69293912_69412780	69322071	GGCTTATG others(998): Show GGCTTATGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGTGGGAGGGTCA CTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATTTCTAAAAAAAAAA AAAAAAAAAATTAAAAACTAGCCAGGGCCGGGTGCAGTGGCTCATGTCTG TAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCACCTGAGGTCAGG AGTTCGAGACCAGCCTGGCCATCCATGGCTAACATGGTGAAACCCTGTCT CTACTAAAAATACAAAAATCAGCTGGGCGCGGTAGCGGGCACCTGTAATC CCAGCTACTTAGGAGGATAAGACAGGAGGCAGAGGTTGCAGTGAGCCGAG ATCGCACCACTGCACTCCAGCCTGGATGACAGAGGGAGACCCCGTCTCAA AAAAACCAAAAATAAAAAACAAGAAAAAAACCTAGCTAGGTACTGTGGCG TGTGCGTGTGGTCCAAGCTACTCAGGAGGGAGGCTGTGGTAAGAGGATCA TTTCAGCCTAGGAGGTCGAGGCTGCAGTGAGCTGTGTTTGTACCACTGCA CTCCAGGCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAA AAAGAAGAAGAAGGAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AGGGAGAAGAAGAAGACGAGGAAGAAGAAGAAGAGGAAGAGGAAGAAGAA GAAGAAGAAGAAGAAGAGGAAGAAGAAGAGGAATTATTTCATCAAGAAGA GAAGATGGAGTAAGAGATGTCTCATCCAGTGCAAATAACGAGCACAAAGA GCGCATGGGGGTGGGAAGTTCCTGGTGCACTAAGGACCGAGATGACAGGA GGGCAGGCATATGGCAAGGCTGGTGGGAGGTGGGGCTGGGGGACTGCGGA GGGCTTGAGGATATGCTAAGGAGTGGGGTTTTCCAGGACCTACTGCTGGG GACTGC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(34): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG01167.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG02080.hp2 HG02109.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02897.hp2 HG03098.hp1 HG03239.hp1 HG03453.hp2 NA18939.hp1 NA18942.hp1 NA18954.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18979.hp2 NA18981.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19012.hp2 NA19063.hp1 NA19067.hp2 NA19081.hp2 NA19086.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0003t0003 a0001c0003t0020 a0002c0002t0002	a0001c0001t0001g0249 a0001c0001t0001g0257 a0001c0001t0001g0276 others(34): Show a0001c0001t0001g0249 a0001c0001t0001g0257 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0233 a0001c0001t0003g0131 a0001c0001t0004g0269 a0001c0001t0006g0251 a0001c0003t0003g0028 a0001c0003t0003g0083 a0001c0003t0003g0106 a0001c0003t0003g0114 a0001c0003t0003g0142 a0001c0003t0003g0220 a0001c0003t0003g0248 a0001c0003t0003g0259 a0001c0003t0003g0262 a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0265 a0001c0003t0003g0267 a0001c0003t0003g0271 a0001c0003t0003g0272 a0001c0003t0003g0273 a0001c0003t0003g0274 a0001c0003t0003g0275 a0001c0003t0003g0279 a0001c0003t0003g0281 a0001c0003t0003g0282 a0001c0003t0020g0132 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0266	37	284	0.1303	-1005	c.-27 others(21): Show c.-276-15266_-276-14262del		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PLEKHG4B_chr5_87168_194966	100445	AAAAAGCC others(998): Show AAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCC TGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAG CCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCAT ATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATC CATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTA ATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGG TTAATCCATATAAAGCCCTGGGAAAAGTCTGTAGGGGAGAGACTGTTGTG AGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTT GTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACT GTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAG ACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGA GAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGG GGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTAT AGGGGAGAGATTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTC TGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAA GTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGGAAA AGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGA AAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCT GGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGC CCGGGG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0127 a0002c0005t0127	a0002c0005t0127g0124 a0002c0005t0127g0124	1	210	0.0048	-1005	c.45+ others(15): Show c.45+8222_45+9226del		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100902	TAATCCAT others(998): Show TAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTG TGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTATAGGGGAG AGATTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTA GGGGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGGAAAAGCCTGT AGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCC TGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAA GCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCGGGGA AAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTG GGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCT CTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAA GCCCTGGGAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATAT AAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCA TATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAAT CCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTT AATCCATATAAAGCCCTGGAGAAAGTCTATAGGGGAGAGACTGTTGTGAG GTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGT GAGGTA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03139.hp2 HG03209.hp2 others(2): Show HG02886.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp2 NA19043.hp1	a0009 a0017 a0009 a0017	a0009c0012 a0009c0034 a0017c0029 a0009c0012 a0009c0034 a0017c0029	a0009c0012t0033 a0009c0012t0114 a0009c0012t0115 others(2): Show a0009c0012t0033 a0009c0012t0114 a0009c0012t0115 a0009c0034t0033 a0017c0029t0112	a0009c0012t0033g0161 a0009c0012t0114g0156 a0009c0012t0115g0157 others(2): Show a0009c0012t0033g0161 a0009c0012t0114g0156 a0009c0012t0115g0157 a0009c0034t0033g0162 a0017c0029t0112g0155	5	210	0.0238	-1005	c.45+ others(15): Show c.45+8655_45+9659del		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101090	GTAGGGGA others(998): Show GTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAG TCTATAGGGGAGAGATTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAA AAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGG AAAAAGTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTG GGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCC CTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAA GCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATAT AAAGCCCGGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCA TATAAAGCCCTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAAT CCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTA AATCCATATAAAGCCCTGGGAAAAGTCTGTAGGGGAGAGACTGTTGTGAG GTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGT GAGGTAAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGT TGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGAC TGTTGTGAGGTTAATCCATATAAAGCCCTGGAGAAAGTCTATAGGGGAGA GACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGG AGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTATAG GGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAGAAAGTCTA TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGT CTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAA AGTCTA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0014 a0014	a0014c0065 a0014c0065	a0014c0065t0038 a0014c0065t0038	a0014c0065t0038g0166 a0014c0065t0038g0166	1	210	0.0048	-1005	c.45+ others(15): Show c.45+8864_45+9868del		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
RPH3AL_chr17_207389_357807	256891	CGTGACTA others(998): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGTGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGG AGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTAC GTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAG GAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTG TCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGG GAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTA CGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTA GGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCT GTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGG GGAGCCGCACGGTGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCCT ACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTTCTGTCCCT AGGAAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0100 a0001c0001t0005g0100	1	133	0.0075	-1005	c.439 others(18): Show c.439-10611_439-9607del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
TRIML1_chr4_188134441_188152743	188151209	TTGAGAAG others(998): Show TTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGAGGAATGAGAGTGGGGGT GAGAAGGGGAATGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGCTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGGAATGAGAGTGGGGGTGAGAGG GGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGG GGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGGAG TGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTG AGAGAGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGGATTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG GGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGG GGTGAGAAGGGGAGTGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAG AAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGGGAGAGGGGTTGAGAAGGGGAG TGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTG AGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAG AGGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02257.hp1 NA18522.hp2 HG01109.hp2 HG02257.hp1 NA18522.hp2	a0003 a0006 a0003 a0006	a0003c0005 a0006c0008 a0003c0005 a0006c0008	a0003c0005t0002 a0006c0008t0001 a0003c0005t0002 a0006c0008t0001	a0003c0005t0002g0105 a0006c0008t0001g0076 a0006c0008t0001g0077 a0003c0005t0002g0105 a0006c0008t0001g0076 a0006c0008t0001g0077	3	228	0.0132	-1005	c.38 others(11): Show c.3838_*4842del		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					3467		chr4	TogoVar
ZNF516_chr18_76352682_76500242	76393228	GGGAGGGC others(998): Show GGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGG TGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGG GAAGCC	G G	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0022 a0001c0001t0047g0022	1	346	0.0029	-1005	c.181 others(21): Show c.1811-13930_1811-12926del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
DPH7_chr9_137549444_137583925	137566514	TCTGTCTG others(997): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0314 a0001c0001t0006g0314	1	340	0.0029	-1004	c.641 others(17): Show c.641-2364_641-1361del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567020	TCTGTCTG others(997): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGA	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	340	0.0029	-1004	c.641 others(17): Show c.641-2870_641-1867del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
NTM_chr11_131365615_132341822	132069068	AAACACGT others(997): Show AAACACGTCACACAGCCAAGTTAACACAACAAACTGACGATCACAGGTTA GTTTACACGTCACACAGCCAAAACACGTCAAACTGACCATCACAGGTTAG TTAACACGTCACACAGCCAAGTTAACACGTCAAACTGACCATCACAGGTT AGTTAACACGTCACTCAGCCAAGTTAACACGTCACACTGACCATCACAGA TTAGTTAACACGTCACTCAGCCAAGTTAACACGTCACACTGACCATCACA GGTTAGTTAACACGTCACACAGCCAAGTTAACACGTCACACTGACCATCA CAGGTTAGTTAACACGTCACTCAGCCAAGTTAACACGTCAAACTGACTGT CACCGGTTAGTTAACACGTCACACAGCCAAGTTAACACGTCAAACTGACC GTCACAGGTTAGTTAACATGTCACACAGCCAAGTTAACACGTCACACTGA CCGTCACAGGTTAGTTAACACGTCACCCAGCCAAGTTAACACGTCAAACT GACCGTCACAGGTTAGTTAACACGTCACACAGACAAGTTAACACATCACA CTGACCGTCACAGGTTAGTTAACAGGTCACCCAGCCAAGTTAACACGTCA CACTGACCATCACAGGTTAGTTAACACGTCACACAGCCAGGTTAACACGT CACACTGACCATCACAGGTTAGTTAACACGTCACACAGCCAAGTTAACAC GTCAAACTGACGATCACAGGTTAGTTAACACGTCACACAGCCAAAACACA TCAAACTGACCATCACAGGTTAGCTAACACGTCACACAGCCAAGTTAACA CGTCACACTGACCGTCACAGGTTAGTTTACACGTCACACAGCCAAAACAC GTCAAACTGACCATCACAGGTTAGTTAACATGTCACACAGCCAAGTTAAC ACGTCAAACTGACGATCACAGGTTAGTTAACACGTCACACAGCCAAGTAA GTTAACACGTCAAACTGACCGTCACAGGTTAGTTAACACGTCACACAGCC AAGTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	86	0.0116	-1004	c.168 others(19): Show c.168-77187_168-76184del		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE6A_chr5_149852953_149949793	149881851	CAAAACCA others(997): Show CAAAACCAGCCTAGGCAACATGGCAAAACCTGTTTCTACCAAAATTACAA AAATTAGCCAGGTATAGTGCGTGTGCCTGTAGTCCCAACTACTAAGGAGG CTGAGGTGAGGGGATTGCTTGAGCCTGGAAGGTTGAGGCTGCAGTGAGCC CTGATCGCCACTGCACTCCAGCCTGGGCAATAGAGCAAGACCCTGTCTCA AAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAATGTCC AGGGGGGCAGCTCCTGGCCAGTCTATGAGTAACTGTGGGCTGAGCATGCC CCCTTGTTCAGTGAAAGCAGATTGCACTGCTCCCAGAATCAGGGGACCTT TGTGGGAGGCCTGGTTGGACAACTGCAGGGCTGAAGGAGTGGCAACTTGC TGCTGCCCCCCCCGTTTCCGGAGCCTGTCCCAGTGGTCTCCTCTTCTCTG TTGCAGACATTTGCAATGCTTGTGACTTAATCAAGCCTCATTTCCACAGA AGCATCTGGGGATAAACAAATAACCCAATGCTTCCTAGGCAACTAGTCAG CCTTGTCTCCCCTGCAACTTTTCCTGACCATTGCCTTCAATGCCCAGGAC CCATCACAGAGGAGCCAGGGGACCATTTGGCTTGGGCCACATATTCATAA AAGGCCTCAAATTTACACTTCTCACCCCATTGTCAATTGAGGTGAATCAT GGAAGCACACTGAGAAAACTGAAAAAAGACATTCACCAGACAACTTAAAT TTGAGTCCCATTACCAACCATGCCAGACCATGCACTGTAAATTTCATACC AACCATAACCAATTTGTGACTAGCACAGCTATATTGTGGGATATTGTCCT ATGTAAAGGAATACGTTAAAAATTAAGCCTATATGTTTTGAATAACACAT TAACTATCACTCAAACTTTAATTCGGGCCGGGCATGATGGCTCACGCCTA TAATCCCAGCACTTTGAGAGACAGAGGTGGGTGTATCACTTGAGGTCAGG AGTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0027 a0001c0009t0027	a0001c0009t0027g0175 a0001c0009t0027g0175	1	328	0.0031	-1004	c.213 others(18): Show c.2135+574_2135+1577del		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	17/21						chr5	TogoVar
ACAP3_chr1_1287391_1312930	1288988	TCTGCTCC others(996): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCT CCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTG TCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC CCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGT GTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	295	0.0034	-1003	c.35 others(11): Show c.3573_*4575del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3402		chr1	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(996): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	350	0.0029	-1003	c.21 others(11): Show c.2161_*3163del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2955		chr16	TogoVar
LUC7L_chr16_183990_234449	186264	GACACGGG others(996): Show GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAATACCAACACGGGAGGAAC AGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG01106.hp1 HG02896.hp1 HG02897.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0320 others(1): Show a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321	4	350	0.0114	-1003	c.19 others(11): Show c.1931_*2933del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2725		chr16	TogoVar
MYT1L_chr2_1784113_2336275	2035187	CATCTCCA others(996): Show CATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCC AACCATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTC CCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTC TCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAAC TTCTCCCCAACAATCTCCACCCTCCAATGTGGGTGCAGAAGAGAGCTCCT AACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCT CCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGA GCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAG AGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAG AAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTG CAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCCCCCTCCAATGTGGG TGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGC GGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAAT GCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCC AATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCC TCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCA TCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCT CCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAAT CTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAAC AATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCC AACA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0088 a0001c0005t0005g0088	1	104	0.0096	-1003	c.-15 others(21): Show c.-158+17788_-158+18790del		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24						chr2	TogoVar
RNF212_chr4_1066478_1118564	1095230	TGGTCTCG others(996): Show TGGTCTCGGGATAGCGCACCTGGCTCATCACGGAACCAAGCACACCCCCC ACAGCTCCATGGTCTCGGGATAGCGCACCTGGCTCATCACAGAACCAAGC ACACCTCCCACAGCTCCATGGTCTCAGCATAGCGCACCTGGCTCATCACA GAACCAAGCACAACTCCCACAGCTCCATGGTCTCGGGATAGCGCACCTGG CTCATCACAGAACCAAGCACAACTCCCACAGCTCCACGGTCTCGGGATAG CGCACCTGGCTCATCACAGAACCAAGCACAACTCCCACAGCTCCATGGTC TCGGGATAGTGCACCTGGCTCATCACAGAACCAAGCACACCTCCCACAGC TCCATGGTCTCAGCATAGCGCACCTGGCTCATCACAGAACCAAGCACACC CCCCACAGCTCCATGGTCTCGGGATAGCGCACCTGGCTCATCACAGAACC AAGCACACCTCCCACAGCTCCATGGTCTCGGGATAGCGCACCTGGCTCAT CACAGAACCAAGCACACCTCCCACAGCTCCATGGTCTCAGCATAGCGCAC CTGGCTCATCACGGAACCAAGCACACCCCCCACAGCTCCATGGTCTCGGG ATAGCGCACCTGGCTCATCACAGAACCAACCACACCCCCCACAGCTCCAT GGTCTCAGCATAGCGCACCTGGCTCATCACAGAACCAAGCACACCTCCCA CAGCTCCATGGTCTCGGGATAGCGCACCTGGCTCATCACAGAACCAAGCA CAACTCCCACAGCTCCATGGTCTCGGGATAGCGCACCTGGCTCATCACGG AACCAAGCACACCCCCCACAGCTCCATGGTCTCGGGATAGCGCACCTGGC TCATCACGGAACCAAGCACACCCCCCACAGCTCCACGGTCTCGGGATAGC GCACCTGGCTCATCACGGAACCAAGCACACCCCCCACAGCTCCACGGTCT CGGGATAGCGCACCTGGCTCATCACGGAACCAAGCACACCCCCCACAGCT CCAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	406	0.0025	-1003	c.246 others(16): Show c.246+532_246+1534del		RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	3/9						chr4	TogoVar
SCNN1D_chr1_1275436_1297025	1288988	TCTGCTCC others(996): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCT CCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTG TCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC CCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGT GTCC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0006 a0012c0022t0006	a0012c0022t0006g0269 a0012c0022t0006g0269	1	290	0.0035	-1003	c.166 others(17): Show c.1662+969_1663-263del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP6V1E1_chr22_17587136_17633749	17613902	GCTTGCAG others(995): Show GCTTGCAGCGAGTGGAGATCGTGCCACTGCACTCTAGCCTGGGCGACAGA GCAGAACTCTGTCTCAAAAAAAAACAAAGATCCAGATTACTGCCCATAAA ATGTGGTCGAGTAACCTCAGGCTTAGTGTCCTCTCTTGTAAAATGAACTT AAAAAAATTAAAAAGTTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCAGACAGATCACCTAAGGTCAGGAGTTTGAG ATCGGCCTGATCAACATAGAGAAACCTCGTCTCTACTAAAAATATAAAAC TGGCCAGGCGTGGCGGCGCATGCCTGTAATCCCAGCTAGTCGGAAGGCTG AGGGAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAG ATCGTGCCACTGCACTCTAGCTTAGGGAAGAAGAGGGAAACTCCATCTAA AAAAATAAAAATAAAAAATAAAGGCTAGGCATGGTGGCCTAACGCCTGCC ATCCCAGCACTTTGGGGGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAG TTCGAGACCAGCCTGACCAACATGGAGAAATCCCATCTCTACTAAAAATA CACACACACACACACAAAAATTAGCCGCGCATGGTGGGCACATGCCTGTA ATCCCAGATACTCAAGAGGGAGAGGTAGGAGAAATGCTTGAACCCAGGAG GTGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCA ACAAAAGCGAACTCTTAAAAAAAAAAAAAAAAGTTGCCTGGGCACGGTGG CTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGCGGATCATG AGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCT ACTAAAAAATACAAAAAATTAGGCGGGCGTGGTGGCAGTCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCG GAA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	370	0.0027	-1002	c.100 others(16): Show c.100-1584_100-583del		ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	2/8						chr22	TogoVar
ATP9B_chr18_79064394_79383283	79144992	GCGGTGTG others(995): Show GCGGTGTGGAGAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGC GGTGTGCAGAGTGACTGAAGGTGCAAGCTGCATGTCGGAGCTGGCGGTGT GGAGAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCCGGCGGTGTGC AGAGTGACTGAAGGTGCAGGCTGCATGTCGGAGCTGGCGGTGTGCAGAGT GACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCAGTGTGGAGAGTGA CTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACT GAAGGTCCAGGCTGCATGTCGGGGTTGCTGGCGGTGTGCAGAGTGACTGA AGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAG GTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGT GCAGGCTGCATGTCGGGGCTGCTGGCGGTGTGCAGAGTGACTGAAGGTGC AGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAA GCTGCATGTCAGGGGAGCTGCCGGTGTGGAGAGTGACTGAAGGTGCAGGC TGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTG CATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCA TGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATG TCGGGGGAGCTGACGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTC GGGGGAGCTGGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGG GGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGG GAGCTGGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGA GCTGGCGGTGTGCAGAGTGACTGAAGGTGCAAGCTGCATGTCAGGGGAGC TGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01071.hp1 others(7): Show HG00099.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp1 HG02258.hp2 HG02735.hp2 HG06807.hp2 NA18955.hp2 NA20752.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0006 a0004c0008 a0004c0036 a0001c0006 a0004c0008 a0004c0036	a0001c0006t0003 a0001c0006t0004 a0004c0008t0001 others(1): Show a0001c0006t0003 a0001c0006t0004 a0004c0008t0001 a0004c0036t0001	a0001c0006t0003g0268 a0001c0006t0004g0273 a0004c0008t0001g0001 others(6): Show a0001c0006t0003g0268 a0001c0006t0004g0273 a0004c0008t0001g0001 a0004c0008t0001g0269 a0004c0008t0001g0270 a0004c0008t0001g0272 a0004c0008t0001g0274 a0004c0008t0001g0275 a0004c0036t0001g0271	10	298	0.0336	-1002	c.726 others(17): Show c.726+1206_726+2207del		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
OR9Q1_chr11_58018881_58186616	58051619	GAAAAAAA others(995): Show GAAAAAAAAAAAAAAAAGAAACTACCATCAGAGTGAACAAGCAACCTACA AAATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGGGCTAATATC CAGAATCTACAATGAACTCAAACAAATTTAGGAGAAAAAAACAAACAACC CCATCAAATAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGAC ATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCAT CAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTA GAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGT GGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCA ACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAA TACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGACTAT AAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCATT ATTCACAATAGCAAAGACTTGGAACCAAATGTCCAACAATGATAGACTGG ATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAA AAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCA TCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTC TCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGG GAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGAT AGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCG CACCAGCATGGCACATGTATATATATGTAACTAACCTGCACAATGTGCAC ATGTACCCTAAAACTTAAAGTATAATAATAATAAAAAAAAAGAAAAAAAG GAA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	324	0.0031	-1002	c.-92 others(17): Show c.-92-4236_-92-3235del		OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr11	TogoVar
RAVER2_chr1_64740075_64838232	64751340	TCTCCCAG others(995): Show TCTCCCAGCTTCAAATCATCAGTAGGTACTCCTGCATCTTATGGCAAAAG CTCAGGAAGAAGGGAATTTAAGGAAATTGCTCCTTGAATTAACAAGACTC AGATCAGGGAAGCATTAAATGAAGTCAACTCTGATCAAAGGCTGTTACTG CAAAAGGGGTTCCTATTACTAACTACCTGAGTTTTGTCTCTTGATTCTTC TATTTGCACTTATTCTTCTTTCCTTATGGACAAAAAGTTTTTGTTTTTCA TTTTTAGATACGGGATGTTGCTATGTTGCCCAGGCTGGAGTGCAGTGGCT ATTCACACATTCACAGGCATAATCATAGTGCACTGCACTGTGGCCTCAAG CTCCTGGCCTCAGATCCTGTGCTACCAAGCCCAGCCTTGATTTTTTTAAA ATCTTTACTTTATTTTGTAAATTTATTTTTAATTTTTAATTTAATTTTTT TAAAAAAAGCTTTATGCTTAACTTTCCTCGCTCAGCTAAAACAGGCAAAC CAAGGAATATTAAAATGTAAATAAAATTATTTATATATTTTTAAATCCTA AAATTGCTTATCATGTGTCTCGGCTGTTTGTATTTTGTTTGCCTAATTAC ACAATTGCCTGACTCTAAGGAGATAGTATGAACTGAGAGGGGTAATAAGT GAGAAGTCGGAAGATCAGATCACCTAGAACATTTGGCTATACAGTACTGT ATATTTTTTGGCTGATGATTATGGGCAGGATAGCCCTTGGTGGTTGTGCT GAATAGCTTCCATTTGCTCTTCCAGATCTATTCTCGACCCTTCTCACCCA CTCCTTATCCAGGGAGGCTAACCTGTACTGTGGATTGCACCAACAAGGCT CTCTCTTATCCTCTGTTTTATGGTTGCACTTGGCCAGAGCCACTAGTGGG GGATCAGAGGGTTGAGGAGAGGAGCATTTATTCACCCAGCATTTATTCAC AGGTGACTGTGGGTTGGCTGCTTCCTCTTTAAAAGTCGGTTTCTATCCAG TGG	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	364	0.0028	-1002	c.249 others(17): Show c.249+5925_249+6926del		RAVER2	ENSG00000162437.15	transcript	ENST00000294428.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
SUMO2_chr17_75160586_75187959	75185588	GTCTCTAC others(995): Show GTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGT ATTCCCAGCTACTCAGGGGGCTGAGGCAGGAGAATCGCTTGAACCCAGTA AGTAGAAGTTGCAGTGAGCCAAGATCACACCACTCACTGCACTCTAGCCT GGGCAACAGAGCAAGACTTCGTCTCAAAAAAAAAAACAAAAAAACAAAAA AACACAAAGATACTGCAATATGGAAATACCCTCCTAACTCATCTGTTTTT TTTTGTTGTTGTTGTTGTTTGTTTTGTTTTAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGGCACGATCTCGGCTCACTGCAACTTCTGCCCCCCG GGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGG CACATGCCACCACGCCCGGCTAATTTTTTGTATTTCTAGTAGAGATGGGG TTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATGTGC CCGTCTCGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCC CGGCTGTTTATTTGTTTGTTTGTTTTTTTCAGACAGAATTTTGCTCTTGT GGCCCAGGCTGGAGTGCAATGGCAAGATCTCAGCTCACTGCAAACTCCGC CTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGAT TACAGGCATGCCATGCACCACCGTGCCTGGCTAATTTTGTATTTTTAATA GAGACGGGGTTTCTCCATGTTGGTCACACTGGTCTCGAACTCCCGACTTC AGGTGATCTGCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGACGTGA GCCACCGCGCCCAGCCTAACCCATCTGTTTTAAAGTACCTCCAGGCCGGG TGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC AGATCACGAGGTCAGGAGATCGAGACCACCCTGGCTAACACAGTGAAACC CCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	-1002	c.-37 others(11): Show c.-3756_-2755del		SUMO2	ENSG00000188612.12	transcript	ENST00000420826.7	protein_coding					2630		chr17	TogoVar
LMF1_chr16_848634_975984	857636	GAGTGGTG others(994): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTG TCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCT CGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGG ATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGG GTGTGCAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTG TGCGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCG TGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGT GTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTC TCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGG GATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATG GGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGGGTG TGAGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGC AGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCA CGGGACGGGTGTGAGTGGTGACTCGGGACGGGTGTGCAGTGGTGACTCGG GACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGT GC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0053 a0001c0004t0001g0053	1	294	0.0034	-1001	c.153 others(19): Show c.1530-3931_1530-2931del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
OR9Q1_chr11_58018881_58186616	58051619	GAAAAAAA others(994): Show GAAAAAAAAAAAAAAAAGAAACTACCATCAGAGTGAACAAGCAACCTACA AAATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGGGCTAATATC CAGAATCTACAATGAACTCAAACAAATTTAGGAGAAAAAAACAAACAACC CCATCAAATAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGAC ATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCAT CAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTA GAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGT GGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCA ACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAA TACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGACTAT AAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCATT ATTCACAATAGCAAAGACTTGGAACCAAATGTCCAACAATGATAGACTGG ATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAA AAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCA TCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTC TCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGG GAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGAT AGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCG CACCAGCATGGCACATGTATATATATGTAACTAACCTGCACAATGTGCAC ATGTACCCTAAAACTTAAAGTATAATAATAATAAAAAAAAAGAAAAAAAG GA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18983.hp1 NA18986.hp1 HG00544.hp1 NA18983.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0001g0063 a0001c0001t0002g0064 a0001c0001t0002g0065	3	324	0.0093	-1001	c.-92 others(17): Show c.-92-4235_-92-3235del		OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr11	TogoVar
ZNF516_chr18_76352682_76500242	76393467	GGGCAGGG others(994): Show GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGC AGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGG TAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAG CC	G G	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0116 a0001c0001t0116g0116	1	346	0.0029	-1001	c.181 others(21): Show c.1811-14165_1811-13165del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393631	GAAGGCAG others(994): Show GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGG GAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCA GGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAA GCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0110 a0002c0003t0020g0110	1	346	0.0029	-1001	c.181 others(21): Show c.1811-14329_1811-13329del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393752	GGGTGGTC others(994): Show GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGG CA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0027 a0001c0005t0027	a0001c0005t0027g0019 a0001c0005t0027g0019	1	346	0.0029	-1001	c.181 others(21): Show c.1811-14450_1811-13450del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
CPNE4_chr3_131528569_132040014	131989409	TGTAGGTG others(993): Show TGTAGGTGAGTAAACAGAGGCTTTAACTACAAATACATGTATTAAAAATT TCTTCTTGAGCAGTAACAATGGCCAAAGAATTGCGCAAGTTTGGGAACCT GTAAACCAAGAGTCCTACCCTCATGGTGCTGTATTCTACCAGGAAAACAG ATATGAGAAGAACCAAAGAAAATTCAAGATAGAATGAAATTAATGCTGAA AAGAGAGAGAAGCAACTTTTGTGAAAGCCAAAAGAATGACATATTTTCTC TCACTGGGAGACAAGAAAGCGCTTATTAAAACAATGTAATTTGAGGTGGT GATAGGTGAGGAATAAATCCAAATTTTACGGGTGGAGAAAGCATGTCCAG TCCAAGATAACACCATGTCAAAAATATCAAAAAGCAAAATTGCTTTCAGA TTTTGGGAAACACGTAGTAGTACAGTGAGAATAACGTTCTGGTGAGACCA GGGTGAGCAAGCTTATAACCAAGCATGAAGGGCCCAGAATTCTGGACTAA AGAGGCTTAAATGTAACGCATGGGCTCTGGGAAGCCATTGAAGGAAAGGC AGGAAGCTCCATTTGGAAGGGGAATGTTGCTGGACTATGGGCATAATGAA AATAATGGATTATTGTGAATTTGTAGCCAAAGCCCACATTCTCTTCAGGT GAATTGCAATGCCCATTGTTTCACTGGTAACTTTGTAAAACAGAAGAGAC ATTTAAAATAATGTATCTTCATTTATCATTTTGTGTGTCATACAAGTCTC TGTAAACTTATATGACCACATCTCCAAGATAGAAAGATTTATCTATATTT AATTCTCTAAAAGAAAAGATACAATCAGTAAGTTTAGTTTTACGAAAGAA TAATTTTCACTATCTAAATTATGATTGTGCAGGCTATAGGTTATTTTACT AAAAAATTATTGGTTCAAGGACTGAGTTGAGTTTTGAGTTCTAGCCAATT TTTTAGTGCCTAAGTCTAAACAACTATTGTTATGTAGAGGTGGAATAAAT G	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01071.hp2 others(16): Show HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG04199.hp2 HG04228.hp2 NA18939.hp2 NA18946.hp1 NA18946.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18971.hp1 NA18982.hp1 NA18982.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0003t0001	a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0040 others(16): Show a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0059 a0001c0001t0002g0085 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0005g0073 a0001c0001t0005g0084 a0001c0001t0007g0002 a0001c0001t0009g0067 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0003g0063 a0001c0002t0009g0068 a0001c0003t0001g0033	19	94	0.2021	-1000	c.-2+ others(17): Show c.-2+44158_-2+45157del		CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15						chr3	TogoVar
DVL1_chr1_1330278_1354418	1350166	AGGAGCGA others(993): Show AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC TGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02717.hp2 HG03098.hp1 HG00642.hp1 HG02717.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0078 a0001c0001t0001g0038 a0001c0001t0001g0078	3	344	0.0087	-1000	c.-21 others(11): Show c.-2101_-1102del		DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding					749		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350166	AGGAGCGA others(993): Show AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC TGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02717.hp1 HG03098.hp2 HG00642.hp1 HG02717.hp1 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0014 a0001c0002t0005g0014	3	338	0.0089	-1000	c.24 others(11): Show c.2438_*3437del		MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding					2524		chr1	TogoVar
OR9Q1_chr11_58018881_58186616	58051458	AGGGGAGG others(993): Show AGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAG TGGGTGCAGCGCACCAGCATGGCACATGTATATATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAAAAA AAGAAAAAAAGGAAAAAAAAAAAAAAAAGAAACTACCATCAGAGTGAACA AGCAACCTACAAAATGGGAGAAAATTTTCACAACCTACTCATCTGACAAA GGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTAGGAGAAAAA AACAAACAACCCCATCAAATAGTGGGCGAAGGACATGAACAGACACTTCT CAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCA TCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCT CACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCT GGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGT AAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCT AGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACC CAAATGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTT ATTGCGGCATTATTCACAATAGCAAAGACTTGGAACCAAATGTCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG G	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp1 HG03471.hp1 HG02965.hp1 HG03041.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0022 a0001c0001t0023 a0001c0001t0011 a0001c0001t0022 a0001c0001t0023	a0001c0001t0011g0159 a0001c0001t0022g0161 a0001c0001t0023g0163 a0001c0001t0011g0159 a0001c0001t0022g0161 a0001c0001t0023g0163	3	324	0.0093	-1000	c.-92 others(17): Show c.-92-4015_-92-3016del		OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr11	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(992): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGC AGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCT GCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAG TGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAG TTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGC CCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTG GCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTT AGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCC TGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01256.hp1 HG01891.hp2 others(17): Show HG00609.hp2 HG01256.hp1 HG01891.hp2 HG02109.hp2 HG02280.hp1 HG02647.hp2 HG02970.hp2 HG03098.hp2 HG03471.hp1 HG03486.hp2 HG03688.hp1 HG04228.hp1 NA18960.hp1 NA18971.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18994.hp2 NA19002.hp2 NA19011.hp1	a0001 a0007 a0009 others(2): Show a0001 a0007 a0009 a0017 a0018	a0001c0002 a0001c0003 a0001c0005 others(9): Show a0001c0002 a0001c0003 a0001c0005 a0001c0012 a0001c0013 a0001c0018 a0001c0041 a0001c0048 a0007c0016 a0009c0021 a0017c0047 a0018c0046	a0001c0002t0001 a0001c0002t0008 a0001c0002t0037 others(12): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0037 a0001c0003t0034 a0001c0005t0004 a0001c0012t0001 a0001c0012t0002 a0001c0013t0009 a0001c0018t0009 a0001c0041t0001 a0001c0048t0006 a0007c0016t0007 a0009c0021t0010 a0017c0047t0006 a0018c0046t0016	a0001c0002t0001g0057 a0001c0002t0001g0064 a0001c0002t0001g0103 others(17): Show a0001c0002t0001g0057 a0001c0002t0001g0064 a0001c0002t0001g0103 a0001c0002t0008g0053 a0001c0002t0008g0065 a0001c0002t0037g0242 a0001c0003t0034g0109 a0001c0005t0004g0082 a0001c0005t0004g0091 a0001c0012t0001g0032 a0001c0012t0001g0051 a0001c0012t0002g0050 a0001c0013t0009g0203 a0001c0018t0009g0029 a0001c0041t0001g0182 a0001c0048t0006g0101 a0007c0016t0007g0205 a0009c0021t0010g0004 a0017c0047t0006g0116 a0018c0046t0016g0110	20	248	0.0807	-999	c.226 others(19): Show c.2268-4404_2268-3406del		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46					INFO_REALIGN_3_PRIME	chr9	TogoVar
ELOVL6_chr4_110040846_110203615	110082882	CCACAAAC others(992): Show CCACAAACGCTTTTAACAGCTCCATAGAAATCTCAAATTAAGACATTATT ACTTGTAAGTATCAGAACTAGTGAATGTTAACTGAAGATGGAGACAAGAA TCTAGTGCCCAACATGAGCAAAACAAGAGAACACAGGTATCCTTTTAGGG AATTCTGATTTAATTAGGTTGTTTCTCTCTGGGTTTATTCACTTAAAAAA AAAGCAAACTTTTTCTATGCCGACTACATACTAGGTTCTTCATATCAAGT GATTAAGAAAAAGACAAATCAATTTTCACAAAACCCATATTCTAGTGAGG GAGACTGATGAATACATTAAAAATAGCTTACTAATTTCAGGTAGTAAGTG CCACAGGATAACAAAACCAGGTAAAGTGATAATGGACTAGGGATGAGGGC AAGAAGGTCGTCTTCTGACATGAAAGAAGTCCTCTCAGAAGCGGGGACAT GTGATCTGATAACTGATCAATGAAAAGGGGCCAGGCTGGCCAAGACCTAG AGAAGAACATACCAGGTAGAGGGATAAATCACTAAGCACTAATCAGCTGG GCACGCTTGGTACGAGCCCAGAGGCTGGCGGTGATGGGGACTAAAGAGAG ACATGGTTTAACAGGTGGGCATGGACTACAGCTTATAGGGCCTTTGAGGA TCCTGACACAGAGATAGTAATAATTATACAATTCATTTTATTCTAACTGC ACTGTACAAGCATTGGTAGGTTTTAAGCAGGTAATGACATGATTTGTATT TTTAATAATACAGGCTGCTGTGTGGTGAAAGGACTGTAGTAATTACTACA TTAATATAAATGTTAAAATATTCATATTATTATAAAAGTAGTCAGGCACT TAAAAATATATTGTGTCCCGCATTTCCAAAGATGATGATGGTGGTGGTTA GTATGTGGTAACAATGGGCATAAGAGAAGCAGACAAACATAGGATCTATT TTGGCAGTATAGCTGCTTAGACTCCCTGAGATGCTGTGATGGATGCTGTG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01975.hp2 HG02723.hp1 others(4): Show HG00738.hp1 HG01975.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0028 others(1): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0028 a0001c0001t0077	a0001c0001t0007g0257 a0001c0001t0009g0019 a0001c0001t0009g0021 others(4): Show a0001c0001t0007g0257 a0001c0001t0009g0019 a0001c0001t0009g0021 a0001c0001t0009g0023 a0001c0001t0028g0049 a0001c0001t0028g0247 a0001c0001t0077g0056	7	338	0.0207	-999	c.221 others(19): Show c.221+21616_221+22614del		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3						chr4	TogoVar
HMBOX1_chr8_28885395_29058262	29037741	TTGTTTTG others(992): Show TTGTTTTGTTTATTTCCAGAGATCATTTACCACATAGATACTCTCAAATA GGAGATGGGACTTAGGTTCTAAGTATGTTTAAAGCTGGTTTTTTTCCTTC TTCTGAAAGAGTAATCTTTCTTCTAAAAGCAGGCCTTTCCTGCCCACTGC CCAGTAAGTTTACTTGGTGATGAAGAAATACACACTGAATTGTAGTTAGT GGGAAATGTCTGGCAATCCTAAAACCTTATTTTGGATAACTGAAATGATG AGGTTTGAATATCTCTTTAGCAGAGATAGTTCACATGAAGGCACAGAAGA ACATGTTCATTTACATGGCATTATCCCTTGCTTGGAGAGTCAGTCTCTGT CTTTTCTATATGTTCACGCAGACACAAAAGGAGGAATTATTTGGCTGCAA TTTTTATAGACTTCAGTGTTATTGAAATGAAAGTGGTTCAAGGACATTTC CATTTGTTACTAGCTTATGGTTTCTCATCTCTTATAAATTATTTTGCCAC TTTTCATTTTAATTCTTTGTTGTCATTGTCTGGCAAAAGATCATTTGGTT TCTCCCTGTGAAGACATTCACTGATCACTCAGCCGACAGTGTCCTTTGTA AAAGTGTAGTGCCCTCTGGATTTATTTTATCATTTTTTTATTGCTACCTG TGGACTTTTGTTTATGCTTCTTTTCTGTTTTGTCTTAGAAAATGTTTAGG GCTATATACATTTTATATGGACTAGAAGTATGTTTTGAGCTCCAGAGTTT CATTTCAGAAACAGGTCCCCTTTAGAGTCCAATAGCCAAGTTCTCCTACA GTTTATCCACTTGGTAACAGAAATTTCTAGTCCTTCAAAATAATCTAAAA TGCTGGAAGGTTAATAACAGTGTGTACTGTTCCTAGGGCTGTCTTGAATG CATTTTATCACCATTCCAAAGCATCTCTTGAATCTCACCTTTCCTTTCTA TGTCCAGGCCTCAGCCTATTTGAGGCCTTCTCCACAGCCATCATCACAGC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	344	0.0029	-999	c.852 others(17): Show c.852-7617_852-6619del		HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr8	TogoVar
LUC7L_chr16_183990_234449	186169	GGGGAACA others(992): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01175.hp1 others(39): Show HG00323.hp2 HG00642.hp1 HG01175.hp1 HG01255.hp1 HG01891.hp2 HG02040.hp2 HG02074.hp1 HG02148.hp1 HG02257.hp1 HG02615.hp1 HG02698.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG04199.hp2 NA18939.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18974.hp2 NA18975.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA19002.hp1 NA19010.hp1 NA19030.hp1 NA19057.hp2 NA19063.hp1 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp2 NA19091.hp1 NA20805.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0330 a0004c0006t0001g0048	42	350	0.1200	-999	c.20 others(11): Show c.2030_*3028del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2820		chr16	TogoVar
NRIP1_chr21_14956235_15070000	15030894	CGGAGGAT others(991): Show CGGAGGATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACT CAGAGGATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGTGTT CAGAGGTTCACCACATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTTG GAGGTTCACTACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCG GAGGATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCACG GAGGATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCA GAGGTTCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGGTTG GAGGTTCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTG GAGGTTCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCG GAGGATCACCACATTCCCTTTCTGTGTGTATACACTCTGGAAGGCGCTCG GAGGATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCG GAGGATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCA GAGGTTCACCACATTCCCTTTCTATGTATATACACTCTGGAAGGCGGTTG GAGGTTCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCG GAGGATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCG GAGGATCACTACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCG GAGGATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCG GAGGATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCG GAGGATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCA GAGGTTCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGGTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG03195.hp1 HG02451.hp1 HG02486.hp2 HG03195.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0011 a0004c0006t0001 a0001c0001t0001 a0001c0001t0011 a0004c0006t0001	a0001c0001t0001g0125 a0001c0001t0011g0130 a0004c0006t0001g0124 a0001c0001t0001g0125 a0001c0001t0011g0130 a0004c0006t0001g0124	3	398	0.0075	-998	c.-45 others(21): Show c.-458+11603_-458+12600del		NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3						chr21	TogoVar
OR9Q1_chr11_58018881_58186616	58051621	AAAAAAAA others(991): Show AAAAAAAAAAAAAAAGAAACTACCATCAGAGTGAACAAGCAACCTACAAA ATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGGGCTAATATCCA GAATCTACAATGAACTCAAACAAATTTAGGAGAAAAAAACAAACAACCCC ATCAAATAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACAT TTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCA GAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGA ATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGG AGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAAC CATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATA CCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGACTATAA ATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCATTAT TCACAATAGCAAAGACTTGGAACCAAATGTCCAACAATGATAGACTGGAT TAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAA ATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTC ACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAG CATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCA CCAGCATGGCACATGTATATATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAAAGTATAATAATAATAAAAAAAAAGAAAAAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00741.hp1 HG01069.hp1 others(24): Show HG00621.hp1 HG00741.hp1 HG01069.hp1 HG01175.hp2 HG01192.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG03017.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG04184.hp1 NA18747.hp2 NA18977.hp2 NA19001.hp1 NA19009.hp2 NA19090.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0001c0001t0024 a0001c0002t0017 a0003c0005t0003	a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0087 others(24): Show a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0087 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0313 a0001c0001t0002g0023 a0001c0001t0002g0046 a0001c0001t0002g0149 a0001c0001t0002g0156 a0001c0001t0003g0134 a0001c0001t0003g0138 a0001c0001t0004g0150 a0001c0001t0004g0157 a0001c0001t0005g0135 a0001c0001t0005g0145 a0001c0001t0008g0136 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0019g0131 a0001c0001t0024g0279 a0001c0002t0017g0286 a0003c0005t0003g0154	27	324	0.0833	-998	c.-92 others(17): Show c.-92-4234_-92-3237del		OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr11	TogoVar
C1R_chr12_7075219_7097445	7083656	NNNNNNNN others(990): Show NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGTA	N N	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	320	0.0031	-997	c.127 others(19): Show c.1273+1209_1274-1550del		C1R	ENSG00000159403.18	transcript	ENST00000647956.2	protein_coding	9/10						chr12	TogoVar
OR9Q1_chr11_58018881_58186616	58051622	AAAAAAAA others(990): Show AAAAAAAAAAAAAAGAAACTACCATCAGAGTGAACAAGCAACCTACAAAA TGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGGGCTAATATCCAG AATCTACAATGAACTCAAACAAATTTAGGAGAAAAAAACAAACAACCCCA TCAAATAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATT TATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCAG AGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAA TGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGA GAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACC ATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATAC CATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGACTATAAA TCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCATTATT CACAATAGCAAAGACTTGGAACCAAATGTCCAACAATGATAGACTGGATT AAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAA TGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCA TTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCA CTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAA TATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGC ATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCAC CAGCATGGCACATGTATATATATGTAACTAACCTGCACAATGTGCACATG TACCCTAAAACTTAAAGTATAATAATAATAAAAAAAAAGAAAAAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG01167.hp1 others(24): Show HG00280.hp2 HG00741.hp2 HG01167.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01884.hp1 HG01891.hp1 HG02132.hp1 HG02145.hp2 HG02451.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG06807.hp2 NA18906.hp2 NA19056.hp1 NA19062.hp1 NA19063.hp1 NA19078.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0008 a0001c0001 a0001c0002 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0002t0001 a0001c0002t0007 a0001c0002t0014 a0006c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0262 a0001c0001t0001g0263 others(23): Show a0001c0001t0001g0003 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0280 a0001c0001t0003g0143 a0001c0001t0004g0141 a0001c0001t0004g0151 a0001c0001t0005g0260 a0001c0001t0008g0137 a0001c0001t0013g0271 a0001c0001t0013g0276 a0001c0001t0013g0277 a0001c0001t0025g0274 a0001c0001t0026g0273 a0001c0001t0027g0278 a0001c0001t0028g0275 a0001c0001t0029g0272 a0001c0002t0001g0261 a0001c0002t0007g0255 a0001c0002t0007g0256 a0001c0002t0007g0259 a0001c0002t0007g0266 a0001c0002t0014g0257 a0001c0002t0014g0258 a0006c0008t0001g0265	27	324	0.0833	-997	c.-92 others(17): Show c.-92-4234_-92-3238del		OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr11	TogoVar

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