Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
GRIA3_chrX_123179278_123495915	123238708	GTAGGAAA others(846): Show GTAGGAAAAGGGAAGAAAGATTAGTTTTCCTTTATTCTTTTTTTTTCTCT TATCGATCATAGACTCTGGCCTGGAACAAATCAGAATGGAGGTTGAAAAA ACAGGCACTGGGATAAAAGTGATGAAGGTGGGTTCTAGGCAACATTCAGG GAGAAAAGATAAATGGATAGGAAAGGTGTGGTCATGCTGTCACTGGACCA GTTATGAGTTCCCTAGCAGGAGGTCATATGAAAGGGAACTTGAGAGTAGA ACTCTGTATATCTCCAGCATCTGGCACAGTACTTGATGCTGTTCAATAAA TGTTTAATTTAAAATATCTACCAAATTGATACACATACATTAGAGGCTGA TTGAACATACACATCTGATCAAAACACAGAGTGAATATCAGAATGTATGC TTGGCCAATGGCGGTGTTGACAGGGTTTGTTGTTAGCAACTTTATCCCTC CCCTTTGTCTCTGCGTTCAAATGCCAAAAGGTCCCCATGCAGAGGTATCC CCAACTGGAGAGTCATTCTCCTAGAGGACAACTAAAAGACTCAGATCTCC CCTGACTGTCACTAACGGCCCTCAAAATTTTATCTGACCTGTGTCCTGTT TCCTCAGTGCCTGGTTCTCGTCAGAACTAATCTGACAAACCAATCCATAC TGAAGTAGTCATGAGAAATACTGACCGCATGTTTCCCTTCCAGACCACAT TTGTAATTTAATAGGGAATTTTGCCATGCTAGCCAAAAAAAGGTGGATGT TTCAAACCTTGTGGTAGTCAATGGAGAAGAGAAACTGAAGATGGGACATC TTTCTAGGGACCCTCAAACCACACTACAATGCCACTATCTACTCTGCCTA CAAA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	207	0.0048	-853	c.269 others(19): Show c.269-14588_269-13736del		GRIA3	ENSG00000125675.20	transcript	ENST00000620443.2	protein_coding	2/15					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCGF3_chr4_700832_775089	745439	CCCGGGGG others(846): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGG TCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGG	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0041 a0002c0002t0003g0041	1	366	0.0027	-853	c.462 others(16): Show c.462+754_462+1606del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746123	CCCGGGGG others(846): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTC GCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0049 a0002c0002t0049	a0002c0002t0049g0030 a0002c0002t0049g0030	1	366	0.0027	-853	c.462 others(17): Show c.462+1438_462+2290del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746148	CTCCCGTG others(846): Show CTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTA GTGT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	366	0.0027	-853	c.462 others(17): Show c.462+1463_462+2315del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D15_chr12_71834759_71929313	71849788	TCTGAAAA others(846): Show TCTGAAAATTTTAATATCTGTTTCTAACTCTAATAGACTTTTGCCATTCT GTAGTAAAATGTGGAGTTTGCTTCTGTCTATAGAAGAATGTTTGGGGTCC ACCAAAGCTTCCAGCGTCTTGAGGATCAGTGGCTGGAAAAGGCTAAGTTT CCCCTGAAGGGTGTTGATCCAGTATTGCAGGAGTGCTTCTATAGCTCTAA ACTCAAAAAATTAAAGGGTTTCTAACAAGTTGACCCTCTCCAGACAATTG TGAAGAGAGTTCCCGGAACAGCCATCGCTGTGAGTTTAAATTATGATAAT CTAATATCAGAAGACACTCTGGAGTTATCTCAGCTTTCAAATACTCCATT CTCATGATAATCATATTATTTCTGGCTGTGATACTCATTACATAGTGAAA TCTCAAATCTCTGGCTTGAAGACCTAACTCTTGGTATAACTCAGTTTTCT TCCTTTCAAAAGAAGTAACATTTCTCTGTCAAATTTTGTCATGGTAAATA CTGGGGCTATACTGGCTAGAGTGGTTTGAAAGACATCAGAAGTTCTAAAC CAGTGCATTTCACCTGCCATGTGGAGCCGGCGGGGTTCGCACAGTGGGCC ACCCAGCTCCTTCTGAGCAGGTTGGCTGCACAGCCACAGGCAGTCGCAGA GTTTTTGTTCTGTCGCCCAGGCTGAAGTGCAGTGATATGATCATAGCTCA CTACAACCTTGAATTCCTGGGCTCAAGTGATCCTTCCACCTCAGCCTCCC AGGTAGCTAGGACTACAGGCATGTGCCACCATGCCTGGCTATTTTTTTTG TTTTGTGGACGTGGGGTCTAGCTGTGTTGCCGAGGCTGGTCTTGAACTCC TGCC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0097 a0001c0003t0005g0097	1	364	0.0028	-853	c.30+ others(16): Show c.30+9980_30+10832del		TBC1D15	ENSG00000121749.16	transcript	ENST00000485960.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
BRSK2_chr11_1384934_1467689	1430284	TCAGCAGT others(845): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGT GCC	T T	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18973.hp1 NA18967.hp1 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0041 a0002c0002t0005 a0002c0002t0041	a0002c0002t0005g0262 a0002c0002t0041g0144 a0002c0002t0005g0262 a0002c0002t0041g0144	2	360	0.0056	-852	c.92- others(15): Show c.92-5615_92-4764del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1430519	CCAGCAGT others(845): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCG TCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTG CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTC AGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	360	0.0028	-852	c.92- others(15): Show c.92-5427_92-4576del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
DPH7_chr9_137549444_137583925	137565654	TGGGTGAC others(845): Show TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCG	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02273.hp1 NA18999.hp2 others(1): Show HG01257.hp1 HG02273.hp1 NA18999.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0105 a0001c0001t0001g0200 a0001c0001t0001g0008 a0001c0001t0001g0105 a0001c0001t0001g0200	4	340	0.0118	-852	c.641 others(16): Show c.641-1352_641-501del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137565747	GTGACTCT others(845): Show GTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAA GCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCT GTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGA GGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCT GTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGG GTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAA GCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCT GTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGT GACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGA GGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT GTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCT GGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGG AAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCT GTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCT GGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18955.hp1 NA18957.hp2 others(2): Show HG00597.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0276 a0001c0001t0002g0277 others(2): Show a0001c0001t0002g0271 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0290 a0001c0001t0002g0301	5	340	0.0147	-852	c.641 others(16): Show c.641-1445_641-594del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137565774	GGGGTGAC others(845): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCC CCT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	340	0.0029	-852	c.641 others(16): Show c.641-1472_641-621del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
ZNF804B_chr7_88754700_89343528	89219308	GCAATTCT others(845): Show GCAATTCTCAATAAAAGATTACATTTTCCTAAGCATACTCTCTTAAGAAA GTCAAAGTTGTTATTTAATAAATGAAACATTGAAAACAGGCAAACAAAAA ATCCAAAAGGGAAAAGCCTAGGGGTAATCACAGGTGAAAACATTTCAGTT TATTTACTTGAAAGATCATATGGGCATCTATATTATTAGTGTGGATATAC TACATATGGCTGCCTAAATTACCTACTCTCCAAATGTGAAGGAAGAGGCT ATTGTTCTCATCTGGTTAGATGTTATCCTTGCTGATTGAGGTATGGCGAT ACTGGCAATTTAGGAATGTTAAATACCACCGACTGAGAAAAAAAATTTCA TGTGGCCAAAGATTATTGCTAACAGCTGTAACAAGGTACACATTCCTGAT ACCAAATGGACCTGGCATGTTGGAATGTGTGGGTAAGTCTTGTATACTCT ATCTCAAATATTTATTCAGATTAAACAAAAATAAATCTTTCGTCAGACAT CACTAGCATTATATTGAGTGTATACTAAATATATATGTATATATATGTAT ATATGTGTGTATATGTAGTATATGTGTGTATATATGTATATATGTGTGTG CATATATATGTATATACATATATGTGTGCATATATATGTATATACATATA TGTGTGCATATATATGTATATACATATGTGTGCATATATGTATATGCACA TATATGTGTGTATACATATATATACGCACATATATGTGCATATATACATA TATACGCACATATATGTGTATATACATATATATACGCACATATATATGTG TGTATATACATATATATACGCACACATATATGTGTGTATATACATATATA TAT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA20129.hp1 HG02818.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0009 a0001c0004t0002g0060 a0001c0001t0002g0009 a0001c0004t0002g0060	2	166	0.0121	-852	c.249 others(17): Show c.249+1014_249+1865del		ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	2/3						chr7	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(844): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGC AGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCT GCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAG TGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAG TTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGC CCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTG GC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0187 a0002c0004t0001g0187	1	248	0.0040	-851	c.226 others(19): Show c.2268-4256_2268-3406del		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC77_chr12_396644_447642	413519	ATGAGCCA others(844): Show ATGAGCCACTGCGCCCGGCCTCTCTAGCTACTCTTTTTATATAAATGGCT CTTTCTTTTCCCAGTCACACTTCCAGAATCTTTTGACTTTCCCATTCACT GAATGGGATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGACGCAACCTCAGCTCACTGCAAGCTCTGCCTC CTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAC AGGTGCACGCCACCACACCTGGCTAATTTTTTGTATTTTAGTAGAGGCAG GGTTTCACTGTGTTGCCCAGGCTGGTCTCAAACACCTGAGTTCAGGCAAC CTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCAGCTGGGAAATGTCTTGACTGCAGTTTCATCTCGGTCCTTGCCAT GCCACTAAAACCGTGCCGTCTGCGGTCTCCAAATACCTGTTTACCAAACT TTTCTCTTTTTGCCCTTTGCAGTGTCTGTCACTTTTGACCTCTCTTTTTC TAAAATTTTCTTCCTTTCTTGATTTCCTTTTTTTTTTTTTTGAGACGGAG TCTCACCCTGTCTGCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACT GCAACCCCTGTCTCCCGGGTTCAAACGATTCTCCTACCTCAGCCTCCCAA ATAGCTGGGATTATAGGTGCCCACCACCACACCTAACTAATTTTTGTATT TTTAGTAGAGGTGGGTTTTCACCATGTTGGCCAAGCTCATCTCAAACTCC TGACCTTGTGATCCGCTTGCCTTGGCCTCCTGAAGTGCTGGGATTACAGG CG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG01891.hp2 HG02647.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0004 a0003c0003t0002 a0003c0003t0004	a0003c0003t0002g0374 a0003c0003t0004g0212 a0003c0003t0002g0374 a0003c0003t0004g0212	2	432	0.0046	-851	c.270 others(17): Show c.270+1548_270+2398del		CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
DYM_chr18_49031387_49465645	49440063	TATGCTCA others(844): Show TATGCTCAATATTTTATATTTGTGAAATATTTGATAAATACATAAAGTCA ATCTCCTCTTTTATGTGTACTGACTATCTCTTGATTTGATGTGCCTTAAA TGGAAAGTAAACATTAGTGGATCTGAAAATCCATGATAACCAAATTCTGT TCTAACACCCTCAAAATGTGTAAATGATGCCCTAATGCCCTTTGTCCCTT CTCAGGCTGATAATCCACAAATTCTACACTCTATTCCAGAATCGCTTTCC TCCTAAATATACATATACTATTATATATGATATATAATATAGTATATGAT ATATAATATAGCATATTATATATGATATATAATATAGCATATTATATATG CTATATAATATATATTTAGGAGTAAAGTGACTATATATTATATATTTATA TAATATATGACTATATATTATATATTTATATAATATATGACTATATATTA TATATTTATATAATATATGACTATATATTATATATTTATATAATATATGA CTATATATTATATATTTATATAATATATGACTATATATTATATATTTATA TAATATATGACTATATATTATATATTTATATAATATATGACTATATATTA TATATTTATATAATATATGACTATATATTATATATTTATATAATATATGA CTATATATTATATATTTATATAATATATGACTATATATTATATATTTATA TAATATATGACTATATATTATATATTTATATAATATATGACTATATATTA TATATTTATATAATATATTTATATAAATACATTATATTTTATATATTTAT ATTATATATAATATATATTATATATATAATATATTTATATAAATATATTA TA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00621.hp1 others(57): Show HG00323.hp1 HG00597.hp2 HG00621.hp1 HG00741.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01346.hp2 HG01433.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02300.hp2 HG02523.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 NA18747.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18959.hp1 NA18961.hp2 NA18964.hp2 NA18971.hp2 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19012.hp2 NA19057.hp1 NA19063.hp2 NA19065.hp2 NA19074.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0010 others(1): Show a0001c0001 a0001c0004 a0002c0010 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0032 a0001c0001t0034 a0001c0004t0001 a0002c0010t0023 a0003c0009t0002	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 others(57): Show a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0002g0034 a0001c0001t0002g0056 a0001c0001t0003g0026 a0001c0001t0003g0053 a0001c0001t0008g0011 a0001c0001t0008g0012 a0001c0001t0008g0014 a0001c0001t0008g0016 a0001c0001t0008g0019 a0001c0001t0008g0033 a0001c0001t0014g0036 a0001c0001t0014g0063 a0001c0001t0015g0015 a0001c0001t0015g0018 a0001c0001t0032g0013 a0001c0001t0034g0055 a0001c0004t0001g0035 a0002c0010t0023g0009 a0003c0009t0002g0054	60	290	0.2069	-851	c.-53 others(18): Show c.-53-10467_-53-9617del		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17						chr18	TogoVar
FGGY_chr1_59292094_59767730	59640572	TCCATGTA others(844): Show TCCATGTACAATTTCTTCTTTTGGCCCCTAAAACGTTTCCCTGGACACAG AGTAAGTGCTCAGTATATGCTTATTTATAATTTATAGGCAACATAGAGAT AATAAAGAGGTCATTTGTTGCCTTAGATAAAACAAACATATGAAGAATTT AATAATACCAAATGAATTAAGTGGCTACTGACACTGACTATCCATATCGT AAGTATTTAATACCAATATTAATTTCCAAGTAAATGAAGATAAACTCCAA TTGTATCATAATTATGAGACTGTTTATTCATCAAACAAATACAGGCCCTG TTACAGTTGTTGGGGGATATAAGAGTAGCTAGACACAATCCCAGCCCTCA GGAATATCACCATCTTTGGGAGGCAGACAAAATATATAAACAGGGAATGG AAAGATAGTATTAAGCTCCAGATGTCCTTCACTGTCCAGAGCTCTCCAGA TGCATGGAAGACGATTGCCCAACCTGGTCCCAGCGGTCAGGAAAGCTCCA GACAGGAAGTAACATTGACACTGAGTGAAGCTGGGAAGGGGGTTTGAGGC CAAGGGAATCATAGTATGTGCAGTATTCTAGAGGGAAGAGAGCATGGCAT GTGAATGTCTACAATTTTGGCTCCTTGTATCATTGTCTAACCAATGATAG ATTGCCTTTAGCATTTTATCTTAATAATAAAAAAAGAAAATTTTCTCGGA TTTCTCAGAGAACCACTGGATATCTGTATATTCCGGCTTTGGCAGCGTTG CACTCTCCCAGTTCTCTACTCTCCCCTCAGGTGACTCTTTTCTTGCATTG TTAAACATTTACCCATTCACTGTGTTTTTATTGAATACCTGCTATGTGCA GG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01891.hp1 others(7): Show HG00280.hp1 HG01070.hp1 HG01891.hp1 HG02055.hp2 HG02723.hp1 HG02818.hp2 HG03453.hp1 HG03486.hp1 HG04199.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0002c0016	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0004t0001 a0002c0004t0002 a0002c0016t0001	a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0002g0156 others(7): Show a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0002g0156 a0002c0002t0001g0001 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0004t0001g0112 a0002c0004t0002g0095 a0002c0004t0002g0109 a0002c0016t0001g0054	10	166	0.0602	-851	c.122 others(19): Show c.1221+2200_1221+3050del		FGGY	ENSG00000172456.18	transcript	ENST00000303721.12	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
MTUS2_chr13_28815339_29510947	29176693	TGACTTAA others(844): Show TGACTTAATCACTTCCCTACAGGCCACACCTCTTAATACTATCACATTGA GAATTAGGTTTCAACATATGAATTTGGGGGCACCCCAAAATTCAGACCAT GATAACAGCTCTTCGTGAGGCTTGGCCATCTCCACATCTCTGCCATCGTT GGCACAGCAGCCTCCCTGCATCCCTCCTCCCTCCTCTCTCTGGACAGTCA CCCCTGAGCTTCTGCTATGGAGTCCCCGGCAGGCATGGTGGCTCTTTACT GTCAATGATCTCTGTTGCCGTAGAGAGATTGTAGGGAGATTTTGAGGTTT CTTCCATGCCAGTATACCTGGATGGGGAGAGATGGGTCATCTCATCCATC TCTCTTTCTAGACTTGCTCAGCCATCATTTTCACTCTCTTGATGGCCACC CATGTTGGTGCAGAGAACAGGTTGGAGGAGGACATGAGAAGTTTACTTTT AGCCTAAGATCTTACATTTGCGATATCTAATAAGCATACAGTGGAGCAGG CAGTTGCAGACATAGTTCTAGAATTTAGGGGAGAGTTCTGGGTTGGAGAT AATAATTTGGAAGTCAGTAACCTTTAAGTCATACTTAAAGCTATGAGACT AGATAAAATCACAAAGGAAGTGTATATAGATGAAAACTAAGGAGATAAAA TGGGTTCATAAAAAATACTGAAAAGAAGCTACTGGACATAATAATAATAA TTATTTAAAGAAAATTATCATAGGCCCTAAGGCTAGATGGGACATTCAAG TTTTACCTGTGAAAGTTGTAAGGAATAGATCCAAATGGGCAGACATTTCT CCTTTTCCCCAAACTTCCCTAATTGATCTCAGAACCTTTTTCACCAGGCC TG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01891.hp2 HG02145.hp1 others(4): Show HG01175.hp1 HG01891.hp2 HG02145.hp1 HG02818.hp2 HG02970.hp2 HG03098.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0005 a0001c0010 a0002c0002 others(2): Show a0001c0005 a0001c0010 a0002c0002 a0003c0003 a0013c0014	a0001c0005t0001 a0001c0010t0006 a0002c0002t0003 others(4): Show a0001c0005t0001 a0001c0010t0006 a0002c0002t0003 a0002c0002t0008 a0003c0003t0001 a0003c0003t0004 a0013c0014t0003	a0001c0005t0001g0074 a0001c0010t0006g0004 a0002c0002t0003g0035 others(4): Show a0001c0005t0001g0074 a0001c0010t0006g0004 a0002c0002t0003g0035 a0002c0002t0008g0092 a0003c0003t0001g0075 a0003c0003t0004g0061 a0013c0014t0003g0001	7	92	0.0761	-851	c.264 others(21): Show c.2644+75726_2644+76576del		MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr13	TogoVar
OR8G1_chr11_124236095_124259364	124250538	TGATTTAT others(844): Show TGATTTATAGCCTGAGGAATAAAGATGTCCATGTTTCCCTGAAGAAAATG CTACAGAGAAGAACATTATTGTAAACAGTAATAATAAGAAGATGATATAT TAATCCTAAGTAGTGGACTGTTACATTGTATGAATGGATGTCTTTCACTT TAATGCATCTGTCAATAATTTTTACCATTTGGTGAGATTATATTACCATT ATTTTTTCATTTCATGACCCTTTGATGTCATTTCCCATGTGGGGTTTTAA CTCATATGTATCAATGAGACACAAATTAATATAAATACTAAAATCGACAT GAGTACATAGACTCATTAATGCCAGCCCCATGTTCTTACCTCTTTTCTTT TACACAATTGATAAAATTCAGCTCAGTTCTCAACCATAATGAAAATACCA TCTTCCAAAAGTGATACCAATCTCCCTTATTCTGTCTTTTCAATAACAAC ATAAATTATTGCAATATGATAGCTGTAATTTTAGCCTGCAGCAATCTCTT TTCTGCCTTATTCATCTATTTACCTCATTTGTCTGCTGTATTTCTTCTTT AGCAACATAATCAAAATTTCAGAATATAAGTTACATATCCGTGTATGTGT TATAATTGTGCAATCCAATATATCATCTGCTTTGCATTTTCCTATTCTAG TTTGTACTTGCCTTCAACCTACACTGGACTTCAGTCTTCATGAAGATTCC CCCGTACATGTGGTTTATTGCCACGTCTCCAGCGTCTATCATAGTTCTTG CCACCTTAGGTCCTTGAAAGCTTTTTTATTATTTCCTCATTTAAGCTAAG TATAGGAAAGCCATATGTATGTCATACTTACTTTATCTATTTATCTCTCG AA	T T	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show HG00099.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0002 a0001c0003 a0001c0012 others(2): Show a0001c0002 a0001c0003 a0001c0012 a0004c0006 a0006c0010	a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 others(20): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0025 a0001c0002t0027 a0001c0002t0034 a0001c0002t0035 a0001c0002t0037 a0001c0003t0002 a0001c0003t0026 a0001c0003t0038 a0001c0003t0039 a0001c0003t0040 a0001c0012t0003 a0004c0006t0003 a0004c0006t0014 a0004c0006t0036 a0004c0006t0041 a0006c0010t0002	a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 others(42): Show a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 a0001c0002t0003g0023 a0001c0002t0003g0028 a0001c0002t0003g0047 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0065 a0001c0002t0005g0005 a0001c0002t0005g0059 a0001c0002t0007g0009 a0001c0002t0012g0013 a0001c0002t0018g0029 a0001c0002t0018g0045 a0001c0002t0019g0030 a0001c0002t0019g0067 a0001c0002t0020g0022 a0001c0002t0025g0058 a0001c0002t0025g0060 a0001c0002t0027g0066 a0001c0002t0034g0046 a0001c0002t0035g0048 a0001c0002t0037g0068 a0001c0003t0002g0002 a0001c0003t0002g0016 a0001c0003t0002g0021 a0001c0003t0002g0044 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0057 a0001c0003t0026g0002 a0001c0003t0038g0051 a0001c0003t0039g0016 a0001c0003t0040g0002 a0001c0012t0003g0064 a0004c0006t0003g0056 a0004c0006t0014g0014 a0004c0006t0036g0014 a0004c0006t0041g0055 a0006c0010t0002g0002	217	430	0.5047	-851	c.866 others(8): Show c.866_*780del	p.Ile others(5): Show p.Ile289fs	OR8G1	ENSG00000197849.7	transcript	ENST00000641972.1	protein_coding	3/3	1232/5055	866/936	289/311		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC1A7_chr1_53082183_53147638	53128425	TGTGGTCA others(844): Show TGTGGTCATGCCACTGCACTCCAGCCTGAGGGACAGAGTAAGACCCTGTC TCAATTAAAAACAAAAAAGAATAGGAATTCATGACAGATAAGGAGGCTCT GACTGTCATGGCGCAAGGAATGGCTCTGGGTGCCAGGTGAGTGCATCATG GAGAAGTGGGCAGGACCTGGCCAGGGCCCCTGCGGAGGCCCTGTGGATGT GCAGGTGTGCACGACTCAGGTGAAGCAGGGCATGCTGCATGGTCTGTACC AGTGTTGAGGGAGCACCCGGGTGTGCCTCAGTCAAGGGTGGCTTTCCAGG GCAGGGGACAGGTGAGCTGCAGGTGCTAATTAGAACCATGAAGATGGAAG AAGCCATCCAAGGGGCTTCCTGCTGAGAGCAGTGACAGAGGTGGCCACGG GCTGGGGGAGCATTCATGACACATCTGAGGAGCCTGGTGATGCTTTAATA AGTTAGAAAAACATGGGACATCTGCCAGGCATGGTGGCTCACGCATGTAA TCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGT TCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAGAATTC AAAAATTTGCTGGTCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGATTGCAGTGA GCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTATG TCTCAAAAAAGAAAAAAAAAAAGAAAAAAGAAAAACATGGGACATCCATA ACGTACCAGGAGCCATGCTGGGTCTTCACGTACATTCTCTTACTTACTTT TC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00438.hp2 others(81): Show HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00741.hp2 HG01070.hp1 HG01106.hp1 HG01255.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02080.hp1 HG02080.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18955.hp2 NA18956.hp2 NA18961.hp2 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18986.hp2 NA18991.hp1 NA18998.hp2 NA18999.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19063.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0002 a0001c0003 a0001c0006 others(11): Show a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0012 a0001c0014 a0001c0016 a0001c0028 a0002c0001 a0003c0013 a0005c0030 a0007c0027	a0001c0002t0002 a0001c0002t0005 a0001c0002t0011 others(16): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0011 a0001c0003t0003 a0001c0003t0006 a0001c0006t0005 a0001c0007t0004 a0001c0008t0006 a0001c0008t0014 a0001c0008t0024 a0001c0010t0002 a0001c0012t0005 a0001c0014t0006 a0001c0016t0009 a0001c0028t0017 a0002c0001t0001 a0003c0013t0001 a0005c0030t0003 a0007c0027t0002	a0001c0002t0002g0003 a0001c0002t0002g0013 a0001c0002t0002g0016 others(71): Show a0001c0002t0002g0003 a0001c0002t0002g0013 a0001c0002t0002g0016 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0098 a0001c0002t0002g0112 a0001c0002t0002g0160 a0001c0002t0002g0169 a0001c0002t0002g0181 a0001c0002t0002g0184 a0001c0002t0002g0190 a0001c0002t0002g0192 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0200 a0001c0002t0002g0202 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0213 a0001c0002t0002g0219 a0001c0002t0005g0173 a0001c0002t0011g0183 a0001c0003t0003g0014 a0001c0003t0003g0176 a0001c0003t0003g0189 a0001c0003t0003g0206 a0001c0003t0003g0211 a0001c0003t0006g0056 a0001c0003t0006g0170 a0001c0003t0006g0171 a0001c0003t0006g0180 a0001c0003t0006g0207 a0001c0006t0005g0002 a0001c0006t0005g0004 a0001c0006t0005g0177 a0001c0006t0005g0182 a0001c0006t0005g0199 a0001c0006t0005g0201 a0001c0006t0005g0216 a0001c0006t0005g0217 a0001c0006t0005g0236 a0001c0006t0005g0237 a0001c0007t0004g0175 a0001c0007t0004g0185 a0001c0007t0004g0346 a0001c0008t0006g0031 a0001c0008t0006g0150 a0001c0008t0014g0027 a0001c0008t0024g0358 a0001c0010t0002g0172 a0001c0010t0002g0210 a0001c0012t0005g0193 a0001c0014t0006g0203 a0001c0016t0009g0166 a0001c0028t0017g0033 a0002c0001t0001g0015 a0002c0001t0001g0179 a0002c0001t0001g0186 a0002c0001t0001g0191 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0212 a0002c0001t0001g0218 a0002c0001t0001g0248 a0003c0013t0001g0214 a0003c0013t0001g0249 a0005c0030t0003g0215 a0007c0027t0002g0174	84	400	0.2100	-851	c.215 others(17): Show c.215+5074_215+5924del		SLC1A7	ENSG00000162383.13	transcript	ENST00000371494.9	protein_coding	2/10						chr1	TogoVar
TACR3_chr4_103581031_103724985	103596672	GATACATG others(844): Show GATACATGTCCCATGTTGGTCTGCTGCACCCATTAACTCGTCATTTACAT TAGGTATATCTCCTAATGCTATCCCTCCCCCGTCCCCCTACCCCACAAGA GTCCCCAGTGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTT CAATTCCCACCTGTGAGTGAGAACATGCAGTTTGGTTTTTTGTCCTTGCG ATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTACAAAG GACACGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATAT GTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGT TCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACACATGTGTGCAT GCGTCTTTATAGCAGCATAATTTATAATCCTTTGGGTATATACCCAGTAA TGGGAAGGCTGGGTCAAATGGTATTTCTAGTTCTAGTTCCCTGAGGAATT GCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAG TGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCC TGACTTTTTAAAGATTGCCATTCTAACTGGTGTGAGATGATATCTCATTG TGGTTTTGGTTTGCATTTCTCTGTTGGTACAAGATTGATTCTTTCTAAAT GCTTGGAATAAAAATGGTCAGCTTGGTGTGACAAAAAACAAAACACAACA AAACTGCTTGTTTTGATTAGAATCCTTTTTTTTAAATTTTATTATTATTA TACTTTAAGTTTTAGGGTACAAGTGCACAACGTGCAGGTTTGTTACATAT GT	G G	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19080.hp2 NA19058.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0076 a0001c0001t0003g0077	2	280	0.0071	-851	c.889 others(17): Show c.889-5840_889-4990del		TACR3	ENSG00000169836.5	transcript	ENST00000304883.3	protein_coding	3/4						chr4	TogoVar
TACR3_chr4_103581031_103724985	103596681	CCCATGTT others(844): Show CCCATGTTGGTCTGCTGCACCCATTAACTCGTCATTTACATTAGGTATAT CTCCTAATGCTATCCCTCCCCCGTCCCCCTACCCCACAAGAGTCCCCAGT GTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCA CCTGTGAGTGAGAACATGCAGTTTGGTTTTTTGTCCTTGCGATAGTTTGC TGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTACAAAGGACACGAAC TCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACAT TTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCT TTGCTATTGTGAATAGTGCCGCAATAAACACATGTGTGCATGCGTCTTTA TAGCAGCATAATTTATAATCCTTTGGGTATATACCCAGTAATGGGAAGGC TGGGTCAAATGGTATTTCTAGTTCTAGTTCCCTGAGGAATTGCCACACTG ACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGT GTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTT AAAGATTGCCATTCTAACTGGTGTGAGATGATATCTCATTGTGGTTTTGG TTTGCATTTCTCTGTTGGTACAAGATTGATTCTTTCTAAATGCTTGGAAT AAAAATGGTCAGCTTGGTGTGACAAAAAACAAAACACAACAAAACTGCTT GTTTTGATTAGAATCCTTTTTTTTAAATTTTATTATTATTATACTTTAAG TTTTAGGGTACAAGTGCACAACGTGCAGGTTTGTTACATATGTATACATG TG	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0145 a0001c0001t0043g0145	1	280	0.0036	-851	c.889 others(17): Show c.889-5849_889-4999del		TACR3	ENSG00000169836.5	transcript	ENST00000304883.3	protein_coding	3/4						chr4	TogoVar
ZNG1C_chr9_68236983_68305035	68273111	TCCGAGTA others(844): Show TCCGAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTTTT GTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGGTTGGTGTCAAAC TCCTGGCCTCAAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGGAGCCCC CATGCCCCTTGTTTGTGACCTGTCAATATAAATATGCTCAGTAGCGGGGG GAGGGGTGGGGGGTGAAAAAGGAAATATGTTTAATATTAAGACTTTGGCC TTTTAGTGTAAACTGATATTCAAAAATTTCTTCATAGAACATTTGCTTCT TTGCTTGATCATTTTTCTAATTCTGTACATCTAAAATGCCCAGAATTTGA GTTGCTGTTATAGTCTACTAACATAGAACTTTGGAGTAATAAGATGGGAA TTTGTCTCTCTTTTGCCAAGACAAGCATTCATAATCTAACACAGTATTGT TGCCACGAGTACGAGTATGTGATAGACTGTTGAGAATAAAGAAAGCAGGC ACAGTTGGTCAGTCCTAAGATAAAGGAGATGTTTTTTCTTATATGTTTGT GCATTAAAGAAAAAAAAATCTTGAATCTGACCAATGATGTTTTTTTTCCT TGTAAGAAAATTTAACAAATGTTTGGCAAGCTTCTGGAATCTAAATTTGA AATTATACATTTGTCATTTTCTTTAAATATTTCTTCACCTTAGCTTTGAT TATGAGAAATCACTGTCCTCTGCTGTTCTTTTTTTTTTTTTTTTCTTTTG AGGCGGAGTCTCACTCTGTGCCAGGCTGGAGTGCAGTGGTGCAATCTCGG CTCACTGCAACCTCCACTTCCTAGGTTCAAATGATTCTCCTGCCGCAGCC TC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	322	0.0031	-851	c.708 others(16): Show c.708-1756_708-906del		ZNG1C	ENSG00000196873.16	transcript	ENST00000360171.11	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
CROCC2_chr2_240901336_240998311	240908219	GGGTGACC others(843): Show GGGTGACCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTG GGGTGAGCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTG GGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTG GGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTC GGGTGACCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTG GGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTC AGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTG GCGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTC GGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTG GGGTGAGCTCTACCTCCTCCACCTGGGGTGACCTCTACCTCCTCCACCTC GGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTG GGGTGAGCTCTACCTCCTCCACCTCAGGTGACCTCTACCTCCTCCACCTG GGGTGAGCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCACCTG GGGTGAGCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTG GGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTG GGGTGACCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTG GGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTC A	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG02922.hp2 others(2): Show HG01243.hp2 HG02486.hp2 HG02922.hp2 HG03130.hp2 NA19240.hp2	a0011 a0014 a0023 others(2): Show a0011 a0014 a0023 a0051 a0055	a0011c0043 a0014c0014 a0023c0055 others(2): Show a0011c0043 a0014c0014 a0023c0055 a0051c0071 a0055c0035	a0011c0043t0001 a0014c0014t0001 a0023c0055t0001 others(2): Show a0011c0043t0001 a0014c0014t0001 a0023c0055t0001 a0051c0071t0001 a0055c0035t0003	a0011c0043t0001g0171 a0014c0014t0001g0173 a0023c0055t0001g0172 others(2): Show a0011c0043t0001g0171 a0014c0014t0001g0173 a0023c0055t0001g0172 a0051c0071t0001g0170 a0055c0035t0003g0232	5	350	0.0143	-850	c.78+ others(15): Show c.78+1652_78+2501del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPH7_chr9_137549444_137583925	137565456	TGTCTGTG others(843): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG A	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	340	0.0029	-850	c.641 others(16): Show c.641-1152_641-303del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
P2RX5_chr17_3668227_3701155	3685620	GACAGCGG others(843): Show GACAGCGGGGCCCCCAGGGACCCTCCCAGCGTCCCCCTCCCAGCCTGAGA ACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTC CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGG CCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCCAGCCTCAGAAC AGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCC TCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGG AGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCC GCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCC CAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCC AGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGA ACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTG AGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCC CGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGG GACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACG C	G G	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	362	0.0028	-850	c.981 others(17): Show c.981+1542_981+2391del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
CECR2_chr22_17364460_17563151	17409196	GATCTTGG others(842): Show GATCTTGGCTCACTGCAACCTCCACCTCGCGGGTTCAAGCGATTCGCGTG CCTCAGCCTTCTGAGTAACTGGGATTACAGGCGCCCGCCACCACACCCAG CTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGA TGGTCTCAGTCTCTTGACCTCGTGATCTGCCTGCCTCCCACCACACCCAG CTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGA TGGTCTCAATCTCTTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTAATTTTAAGTAAGT TTTATAAAGAGAGTAACACAATGAATTCCTGTCAGTGTCAGTGATTATTA ATATTTTGTGTTCATGATCACCCAGTGAAAAGTATATCCTCGCCTCTCTT CCCAACCCAGTCAATCTCTGTCATATAACTCTTTTCTGTTTTCTTCTTCT GGGGTGACCTTTTTGGTTTACTTTAGTCTGTTTTCTCCCTAAGAATGTGA GTTATATCAGAGCAGGGATCTTCTCTATCCTATGCATTCTTGTATTTACA GTACCTAGAATTGTCCTATACATAGTAGATGTACTCAATAAATATTTACT GAGTGAGTGAATGAATGAAATAAAATTTCCAAAAGCAGGGACTGTGTTTT ATCCATATTTGTGTTCTGAACTGTGTCTAGTAAAGGGCTTCACACATATT CAATCAAGTGTTTGCTGTCTATTTATTTATTTATTTATTTATTTATTTAT TTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCAGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00621.hp2 others(86): Show HG00099.hp2 HG00140.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG01978.hp2 HG01993.hp1 HG02071.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18944.hp2 NA18945.hp2 NA18962.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18999.hp2 NA19007.hp1 NA19011.hp1 NA19058.hp2 NA19062.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0013 a0014	a0001c0001 a0001c0008 a0001c0013 others(10): Show a0001c0001 a0001c0008 a0001c0013 a0001c0019 a0002c0002 a0002c0010 a0003c0003 a0003c0025 a0004c0004 a0005c0005 a0006c0007 a0013c0016 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0040 a0001c0001t0042 a0001c0001t0046 a0001c0001t0049 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0073 a0001c0001t0077 a0001c0008t0083 a0001c0013t0001 a0001c0019t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0022 a0002c0002t0032 a0002c0010t0041 a0003c0003t0007 a0003c0003t0062 a0003c0025t0007 a0004c0004t0006 a0004c0004t0012 a0005c0005t0016 a0006c0007t0001 a0006c0007t0008 a0013c0016t0002 a0014c0021t0050	a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0063 others(86): Show a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0063 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0280 a0001c0001t0002g0058 a0001c0001t0002g0070 a0001c0001t0002g0096 a0001c0001t0002g0128 a0001c0001t0002g0147 a0001c0001t0002g0160 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0234 a0001c0001t0002g0242 a0001c0001t0003g0043 a0001c0001t0003g0118 a0001c0001t0003g0161 a0001c0001t0003g0170 a0001c0001t0004g0064 a0001c0001t0004g0179 a0001c0001t0005g0050 a0001c0001t0005g0157 a0001c0001t0005g0211 a0001c0001t0005g0216 a0001c0001t0005g0222 a0001c0001t0005g0241 a0001c0001t0007g0260 a0001c0001t0008g0308 a0001c0001t0009g0187 a0001c0001t0010g0040 a0001c0001t0011g0113 a0001c0001t0012g0264 a0001c0001t0013g0114 a0001c0001t0013g0236 a0001c0001t0019g0159 a0001c0001t0019g0285 a0001c0001t0022g0309 a0001c0001t0023g0318 a0001c0001t0025g0297 a0001c0001t0029g0151 a0001c0001t0030g0054 a0001c0001t0040g0283 a0001c0001t0042g0322 a0001c0001t0046g0009 a0001c0001t0049g0296 a0001c0001t0068g0150 a0001c0001t0069g0265 a0001c0001t0071g0129 a0001c0001t0073g0158 a0001c0001t0077g0257 a0001c0008t0083g0047 a0001c0013t0001g0122 a0001c0019t0002g0104 a0002c0002t0001g0078 a0002c0002t0001g0162 a0002c0002t0001g0185 a0002c0002t0003g0018 a0002c0002t0003g0056 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0082 a0002c0002t0003g0139 a0002c0002t0003g0201 a0002c0002t0003g0218 a0002c0002t0005g0232 a0002c0002t0008g0298 a0002c0002t0008g0305 a0002c0002t0022g0274 a0002c0002t0032g0086 a0002c0002t0032g0087 a0002c0010t0041g0269 a0003c0003t0007g0073 a0003c0003t0007g0183 a0003c0003t0007g0209 a0003c0003t0007g0212 a0003c0003t0062g0220 a0003c0025t0007g0088 a0004c0004t0006g0197 a0004c0004t0006g0268 a0004c0004t0012g0144 a0005c0005t0016g0181 a0006c0007t0001g0210 a0006c0007t0008g0277 a0013c0016t0002g0228 a0014c0021t0050g0005	89	324	0.2747	-849	c.126 others(19): Show c.126+39292_126+40140del		CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
CREB5_chr7_28407518_28830894	28534679	ATGCTTGT others(842): Show ATGCTTGTTTAAAAACCCTGGATTTTCAGACACCATCTGCATCATCATCT TAACAAATATTTATGTAGTGCTTATAGAAATTAATTTTTGTAATCCTCAC AATAACCCTATGAGGTACACGCTATTATGTCCCCATTTTGGAGACCAGAA AACAGGCCCAGAGGGATAAAGTGACTTTCTCAGGGTAACAGGCCTTCTAA GTGAGAAAGCCCAGGTTTGAACCTAATAGTTTGACTCTGGAGTCTGAGTT CTCAAGGCCCTGATGTCCCGTATCACCTCCCAGTTATTTATTTATATTTA GAAATGTACTCATCCTTGGCCATGTGTTTCTTACCTGAGGGCTTGCGGAC TGCAGCTCGCATCTCTGGTTCCTGCTGGTCCTGGTGAATTAGGCAATGGG ATATTGTGGCCCCTTTGCTGTCCCATGGTCACCCCATCTACACCGGCTCT TTAAGGCCCAGTGTGGTCACACGAAGGCAGCCTTACAAGGAAGGCTAGGT CGGGCCCAATTTGGTAACAGACTCAAGTCTTTTTGCAGGAACATTCATAC TTGTGGATTACATAGTAGAGGTTTTTCCTCTACTGGCTGCAAATAGTCCT CTGTGGTTAAACCAATTTCTTTAGGAAAAGTGAAAGGAGGGAGGGAGGGA GGGAAGGAAAGAAGGAGGGAAGGATGGAAGGGAGGAAAGGTGGAAGGGAG GAAGGGAGGAGGAGGGAAGGAAAGAAGGAAGAAGAGAGGGAGGCAGGGAA GGAAGGAGAGAAGGAAGGAAAAAATGGGAGTAGAAGTCTCATAATATTTC CTTCTCTTCATCTCGACTTCCTCTTTCATTTACCTTACTTTCCTTCACTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp2 HG01168.hp2 others(29): Show HG01069.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG02300.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG03453.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG04115.hp2 NA18957.hp1 NA18957.hp2 NA18969.hp1 NA19030.hp2 NA19043.hp1 NA19062.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0026 a0001c0001t0028 a0001c0001t0035 a0001c0001t0045	a0001c0001t0001g0079 a0001c0001t0001g0107 a0001c0001t0002g0023 others(29): Show a0001c0001t0001g0079 a0001c0001t0001g0107 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0155 a0001c0001t0002g0165 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0177 a0001c0001t0003g0186 a0001c0001t0003g0189 a0001c0001t0004g0073 a0001c0001t0004g0149 a0001c0001t0005g0026 a0001c0001t0005g0054 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0124 a0001c0001t0007g0075 a0001c0001t0010g0144 a0001c0001t0010g0171 a0001c0001t0013g0093 a0001c0001t0013g0157 a0001c0001t0014g0050 a0001c0001t0019g0021 a0001c0001t0026g0182 a0001c0001t0028g0037 a0001c0001t0035g0138 a0001c0001t0045g0046	32	198	0.1616	-849	c.291 others(19): Show c.291+26943_291+27791del		CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10						chr7	TogoVar
DDX51_chr12_132131594_132149319	132134723	CGAGTGTG others(842): Show CGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACG GTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCA CCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGC CCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCC TCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGA GTGTGCCCACGGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGGTG CCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCAC CTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC ACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCT CCCACCTCCCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGT GCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCA CTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCC GAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTG CCCGCTACCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCC ACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTG CCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGC TCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0012 a0008c0010t0012	a0008c0010t0012g0015 a0008c0010t0012g0015	1	334	0.0030	-849	c.37 others(11): Show c.3700_*4548del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1870		chr12	TogoVar
ETF1_chr5_138501095_138548236	138535049	CAAGCGAT others(842): Show CAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATG TGCCAACACACCCAACTAATTTTTTTATTTTTAGTAGAGACAGGTTTTCA CCATGTTGGCCAGGCTGGTCTTGAACTCCTTACCTCAGTGATCTACCTGC CTAGACCTCCCAAAGTACTGGGATTACAGGCATGAGCAACCATACCCAGC CAATGTTACCTTTTTTAAAGAAGAAGAAGAAAGCATTAGTTCCCCCATGA AGCAGATGGGGAAACTGAAGCCCATGGATGAATAATTGGCTTTTTTTTTT GAGACAGAGACTGGCTATGTTGCCCAGGCTGGAGTGCAGTGGCACGATCT CGGCTCACTGCAACCTCCTTTTAATAAAAGATGAATTTCGGCCAGGCGCG GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACCTGAGGTCAGGAGTTCGAGACCAGCTTTGCCAACATGGCAAAACTCT GTCTCTACTAAAAAATGCAAAAATTAGCCGGCTGTGGTGGCGGGTGCCTG TAATCTCAGATACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGG AGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGG CAAGAGAGCAAGACCGTCTCAAAAAAAAAAAAAGAAAAAATTAGCCAGGC TTGGTGGGACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGCTGAACC TGGGAGGTGGAGGTTGCAGTAAGCTGAGATCGCACCACTGCACTCAAGCC TGGGCGGGAAAGCGAGACTCCGCCTCAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02293.hp1 HG01975.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	2	334	0.0060	-849	c.86+ others(15): Show c.86+6935_86+7783del		ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	2/10						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160657021	GGATAAGG others(841): Show GGATAAGGATAGCAAAATGGCGGCACTGACCGTCCTGTGTGGACTGCTCA GCTGACTGTGCCAAGGAATAGGGGTTACAGGGTAGGCAAACCATGCCAAC CAAGGAAGCTACACAGGAGGTATGTTGCAACCTTGGAAGAACACTAAAGT TTTTTTTTTCATTTTAAGTTATCAGTTGTCTAAATGGTGAAAGCAAATGT TCTTCACGCCCCAGCTGCTGAGCTAGGTGATTGAGGTTTTCTTCCTGGTA TACAAATTAAGCAACCCTCTGATTTCTGAGAATCCTATCTGAAAACTAAT GACAGTTACCAGCATTTGATAACCTTTCTGCTTCCTGGTAGGTGAAGGTT CTTTTCAAGATAACCCACAACAGAGTGACTGGCAGTTACTTTCCTCTGGC TCTGGATGAGGAAATCATTTGCATATTCAATCACTCTAGAGGTCCCTGCC TGCCCTAGTGATTCTCCCACAAAAGCAGGCAGATTGGGCTGGAGGGCTCT GAGGGAGACTATCTTAAGGATTTTTTACAGTTTGAGTTCCCTTTTGTCAA GTGGACAAATATTCTGTTTCCCAGTTGGGCTGACTAAAAGTAATCTTGAG ATCTTGCTATGGCATTTCCTGAACATACAGGGCATGGGCTTGGCATGCCA AGCAAATACTGGAAATAGGATGATTTCTTCTGTCATTTCTAAAAGGAACT AATTGTTGGCAAAATTGTTAACAATTGTCTGTGTAATTCCCTGTAAGGGC ATGCAGTCGCACCCTGTATCTCTCTTGTTTACTTCTGGGTCCCCAGAGCA TGCTACAGCATCCGGCAGATAGAAGGCTTTTAATAAATACTTGATGAAT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0226 a0001c0002t0011g0226	1	236	0.0042	-848	c.676 others(17): Show c.676-8613_676-7766del		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
BANP_chr16_87946434_88082316	87999604	ACACGCAC others(841): Show ACACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACGTGTCTCCAT GCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACCCAGACAC GTCTCCATGCACGCACGTGCGCGGCTGGACTCACCTGTCCTTCCAGACAC GTCTCCATGCCCGCACGTGCGCGGCTGGACTCACCTGTCCTTCCAGACAC GTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACAC GTCTCCATGCACGCACGTGCACGGCTGTACTTACCTGTCCTTCCAGACAC CCAGACACGTCTCCATGCACGCACGTGCGCGGCTGGACTTACCTGTCCTT CCAGACGTGTCTCCATGCACGCACGTGCGCGGCTGTACTTGCCTGTCCTT CCAGACACCCAGACACGTCTCCATGCACGCATGTGCGCGGCTGTACTTAC CTGTCCTTCCAGACACGTCTCCATGCCCGCACGTGCGCGGCTGTACTTAC CAGGCCTTCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTAC CTGTCCTTCCAGACACGTCTCCATGCACGCACTTGCACGGCTGTACTTAC CAGGCCTTCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTCAC CTGTCCTTCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTAC CTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCACGTGCGCGGCT GTACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCACGT GCGCGGCTGTACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(115): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG01074.hp2 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18973.hp2 NA18982.hp2 NA18985.hp1 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0008 others(7): Show a0001c0001 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0014 a0001c0023 a0001c0027 a0001c0032 a0001c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0007t0002 a0001c0007t0005 a0001c0008t0001 a0001c0009t0001 a0001c0009t0005 a0001c0012t0001 a0001c0014t0019 a0001c0023t0005 a0001c0027t0007 a0001c0032t0005 a0001c0033t0001	a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0168 others(115): Show a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0288 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0002g0181 a0001c0001t0005g0253 a0001c0001t0006g0196 a0001c0001t0006g0198 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0006g0263 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0013g0205 a0001c0001t0014g0193 a0001c0001t0020g0264 a0001c0007t0002g0211 a0001c0007t0002g0215 a0001c0007t0005g0088 a0001c0007t0005g0089 a0001c0007t0005g0119 a0001c0007t0005g0282 a0001c0008t0001g0275 a0001c0009t0001g0189 a0001c0009t0005g0096 a0001c0009t0005g0097 a0001c0009t0005g0098 a0001c0009t0005g0099 a0001c0009t0005g0100 a0001c0009t0005g0101 a0001c0009t0005g0102 a0001c0009t0005g0103 a0001c0009t0005g0104 a0001c0009t0005g0105 a0001c0012t0001g0160 a0001c0012t0001g0161 a0001c0014t0019g0199 a0001c0023t0005g0289 a0001c0027t0007g0090 a0001c0032t0005g0107 a0001c0033t0001g0178	118	352	0.3352	-848	c.363 others(17): Show c.363-4650_363-3803del		BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	87999654	GCACGCAC others(841): Show GCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACCCAGACAC GTCTCCATGCACGCACGTGCGCGGCTGGACTCACCTGTCCTTCCAGACAC GTCTCCATGCCCGCACGTGCGCGGCTGGACTCACCTGTCCTTCCAGACAC GTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACAC GTCTCCATGCACGCACGTGCACGGCTGTACTTACCTGTCCTTCCAGACAC CCAGACACGTCTCCATGCACGCACGTGCGCGGCTGGACTTACCTGTCCTT CCAGACGTGTCTCCATGCACGCACGTGCGCGGCTGTACTTGCCTGTCCTT CCAGACACCCAGACACGTCTCCATGCACGCATGTGCGCGGCTGTACTTAC CTGTCCTTCCAGACACGTCTCCATGCCCGCACGTGCGCGGCTGTACTTAC CAGGCCTTCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTAC CTGTCCTTCCAGACACGTCTCCATGCACGCACTTGCACGGCTGTACTTAC CAGGCCTTCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTCAC CTGTCCTTCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTAC CTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCACGTGCGCGGCT GTACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCACGT GCGCGGCTGTACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCATGC ACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACGCGTCTCCATA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02683.hp2 HG03927.hp2 others(1): Show HG02602.hp1 HG02683.hp2 HG03927.hp2 HG04115.hp2	a0002 a0002	a0002c0013 a0002c0024 a0002c0013 a0002c0024	a0002c0013t0001 a0002c0024t0003 a0002c0013t0001 a0002c0024t0003	a0002c0013t0001g0169 a0002c0013t0001g0170 a0002c0013t0001g0172 others(1): Show a0002c0013t0001g0169 a0002c0013t0001g0170 a0002c0013t0001g0172 a0002c0024t0003g0171	4	352	0.0114	-848	c.363 others(17): Show c.363-4601_363-3754del		BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88000257	TCCTTCCA others(841): Show TCCTTCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTG TCCTTCCAGACACCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTA CTTACCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCACGTGCG CGGCTGTACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACG CACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACGCGTCTCCATACACG CACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACGTGTCTCCATGCACG CACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACCCAGACACGTCTC CATGCACGCACGTGCGCGGCTGGACTCACCTGTCCTTCCAGACACGTCTC CATGCCCGCACGTGCGCGGCTGGACTCACCTGTCCTTCCAGACACGTCTC CATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCTC CATGCACGCACGTGCACGGCTGTACTTACCTGTCCTTCCAGACACCCAGA CACGTCTCCATGCACGCACATGCGCGGCTGGACTTACCTGTCCTTCCAGA CGTGTCTCCATGCACGCACGTGCGCGGCTGTACTTGCCTGTCCTTCCAGA CACCCAGACACGTCTCCATGCACGCATGTGCGCGGCTGTACTTACCTGTC CTTCCAGACACGTCTCCATGCCCGCACGTGCGCGGCTGTACTTACCAGGC CTTCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTC CTTCCAGACACGTCTCCATGCACGCACTTGCACGGCTGTACTTACCAGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(148): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01255.hp2 HG01358.hp2 HG01496.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0006 others(9): Show a0001c0002 a0001c0005 a0001c0006 a0001c0011 a0001c0012 a0001c0016 a0001c0017 a0001c0022 a0002c0003 a0002c0015 a0002c0021 a0002c0025	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(19): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0011 a0001c0005t0003 a0001c0005t0005 a0001c0006t0002 a0001c0011t0001 a0001c0011t0003 a0001c0011t0005 a0001c0012t0001 a0001c0016t0003 a0001c0016t0005 a0001c0017t0001 a0001c0022t0003 a0002c0003t0003 a0002c0003t0009 a0002c0003t0010 a0002c0015t0002 a0002c0015t0003 a0002c0021t0003 a0002c0025t0003	a0001c0002t0001g0047 a0001c0002t0002g0004 a0001c0002t0002g0006 others(145): Show a0001c0002t0001g0047 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0044 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0066 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0008g0003 a0001c0002t0008g0008 a0001c0002t0008g0010 a0001c0002t0008g0022 a0001c0002t0008g0023 a0001c0002t0008g0025 a0001c0002t0008g0036 a0001c0002t0008g0043 a0001c0002t0008g0051 a0001c0002t0011g0030 a0001c0002t0011g0052 a0001c0002t0011g0058 a0001c0005t0003g0002 a0001c0005t0003g0225 a0001c0005t0003g0286 a0001c0005t0003g0295 a0001c0005t0003g0296 a0001c0005t0003g0297 a0001c0005t0003g0298 a0001c0005t0003g0299 a0001c0005t0003g0300 a0001c0005t0003g0301 a0001c0005t0003g0302 a0001c0005t0003g0303 a0001c0005t0003g0304 a0001c0005t0003g0307 a0001c0005t0003g0309 a0001c0005t0003g0310 a0001c0005t0003g0311 a0001c0005t0003g0312 a0001c0005t0005g0063 a0001c0005t0005g0064 a0001c0006t0002g0001 a0001c0006t0002g0005 a0001c0006t0002g0067 a0001c0006t0002g0071 a0001c0006t0002g0072 a0001c0006t0002g0073 a0001c0006t0002g0075 a0001c0006t0002g0077 a0001c0006t0002g0078 a0001c0006t0002g0079 a0001c0006t0002g0083 a0001c0006t0002g0128 a0001c0006t0002g0280 a0001c0006t0002g0281 a0001c0006t0002g0337 a0001c0011t0001g0040 a0001c0011t0003g0027 a0001c0011t0005g0120 a0001c0011t0005g0121 a0001c0011t0005g0345 a0001c0011t0005g0346 a0001c0012t0001g0011 a0001c0016t0003g0068 a0001c0016t0005g0344 a0001c0017t0001g0026 a0001c0017t0001g0242 a0001c0022t0003g0308 a0002c0003t0003g0007 a0002c0003t0003g0050 a0002c0003t0003g0053 a0002c0003t0003g0054 a0002c0003t0003g0278 a0002c0003t0003g0279 a0002c0003t0003g0283 a0002c0003t0003g0284 a0002c0003t0003g0287 a0002c0003t0003g0292 a0002c0003t0003g0293 a0002c0003t0003g0294 a0002c0003t0003g0305 a0002c0003t0003g0306 a0002c0003t0003g0315 a0002c0003t0003g0316 a0002c0003t0003g0317 a0002c0003t0003g0318 a0002c0003t0003g0322 a0002c0003t0003g0324 a0002c0003t0003g0325 a0002c0003t0003g0326 a0002c0003t0003g0327 a0002c0003t0003g0328 a0002c0003t0003g0331 a0002c0003t0003g0334 a0002c0003t0003g0335 a0002c0003t0003g0336 a0002c0003t0003g0338 a0002c0003t0003g0343 a0002c0003t0009g0024 a0002c0003t0009g0290 a0002c0003t0009g0291 a0002c0003t0009g0319 a0002c0003t0009g0320 a0002c0003t0009g0323 a0002c0003t0010g0274 a0002c0003t0010g0285 a0002c0003t0010g0332 a0002c0003t0010g0333 a0002c0015t0002g0065 a0002c0015t0003g0321 a0002c0021t0003g0340 a0002c0025t0003g0028	151	352	0.4290	-848	c.363 others(17): Show c.363-3975_363-3128del		BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMSS1_chr3_99812862_100186732	99909937	GTCATCTG others(841): Show GTCATCTGACCAAAATGAGTGAGAAATTTCAGTTCTCGGGGCAAAATGTG TATTCAGAGCTGAAATTTTGTTTAAGAATAAGGCTGATTACTTAACAGTG AAGGGCTTCAGTGTGGGGTCAGCTCACCCTCATTGCACTTTCAAGTATAA TATTAGGTATTCTTAGATGTCCAGAACCTGTGAAATTCTTAATAGAGTTG GTTTATACGTAATTTCTATTCTTTGACTTACAAGAACTTAAATCTTGTCT AAAAACCTGTATGGATTTCAAAGGCTTAGAGAGGATTAAAAGGCTATAAA AATTTAAATAACTTCATCCAGTGAGTATGTTTACCTAAATGTGTCATCAA ACTTCTCAGCTTTCTGGTTAGAAAACTGGTTTGGGACACACTGACTCACA CTGTCGACTGATAGAATGCAAACACATTCAGAATTCTCCTGGCAAGACTA ATGTAACAAAAACAGGGTTCTGTGAGCTTTTAGAGGTGAAATGTTTCATT TCTTTAATAAATCTTCCTATCACTGAGAGCTTTTAAAGTAAACAAACACA TGTCTTCACAGTTGTTAGGTGCTAGGTGAAGTGGCAGATGCATGTTGTTA TATCCAGTACCCCTTACCACTTTCCAAGGAAACAATTTTTGTAGGTAACC TGGGGAGTATTATGTTTTAGCCCTTAGGCTGAAAAAAAGTAATACGCTAT AATTCTAACTATTATCTCCATATGTAAATAAACATTTTATGGGGTTTATA TTTTCCCTTTGGCCTATAGATCTCAAATTCTTTGCCCAAATAGTTACCCA TACTCTTCTCAGAACCCTCATGCAAGAAAGTAGATAACTAGAATATTTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(70): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03130.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18943.hp2 NA18954.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA19007.hp2 NA19065.hp2 NA19083.hp1 NA19088.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0002c0002t0003 a0002c0002t0017 a0002c0002t0020	a0001c0001t0001g0102 a0001c0001t0001g0132 a0001c0001t0002g0086 others(69): Show a0001c0001t0001g0102 a0001c0001t0001g0132 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0140 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0008g0087 a0001c0001t0008g0088 a0001c0001t0008g0089 a0002c0002t0003g0001 a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0111 a0002c0002t0003g0112 a0002c0002t0003g0113 a0002c0002t0003g0114 a0002c0002t0003g0115 a0002c0002t0003g0117 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0124 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0127 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0133 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0141 a0002c0002t0017g0131 a0002c0002t0020g0116	73	232	0.3147	-848	c.64+ others(17): Show c.64+91896_64+92743del		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
DLGAP2_chr8_732628_1713476	1406290	CCCTCCTT others(841): Show CCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTACTGAGCGCACCACA GTGCTTACTGAGCGCCACCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGC TTACTGAGCGCCACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTAC TGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAG CGCCACCTCCTCGTCCTCCAAAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCT CCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTT GTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCC TCCAGAGTCGTGTATTGAGTGCTTACTGAGCACTCCCTCCTTGTCCTCCG GAGTCGTATATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTG TATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGT GCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAGAGCTT ACTGAGCACTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAGAGCTTACTGAGCG CTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	-848	c.107 others(19): Show c.107-95061_107-94214del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DSC1_chr18_31124236_31167856	31137975	GTGTGTGT others(841): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGATTAAAGTTCAAAG AAACAAAATCCATCATATCACTATATGGTTTTTCACTAAAATGTGTAACA TCCTTATCTTTACTTTTTTATTAAACACACCCAGGTTATCTACGGCCCTG GAATGTAGATTTGTTAAAGTTTGCTTTTTATTTTCTACACTACATTCACT GTGCTTACAGACTTTGTCTTTTAGCACCAAAAAACAAAGTTACTTTTTAA ATACTTTGTTCTCCATAATTTTCTCCTCTCCAGATAGCATTTTATTTTTA AAAAATTAGGCCTCTGCATTTCTGTAATCTCTTCTCTTTCATCCTTAATC TGAGCAGGTCTTAACTGATCGCCACTTCTGATAATATTCATACATTCTTT TTGAGGAAAGTTCTCACATCATAGAATCTCTTGTGAAACTATAATAATTC TATAGTTGATATCGTGTAAGAATTTGGCCTTATCTTAACATTCTTAATTT CCATGTCAGCTTGTCTAATACTTAGAACTTAATAGACAAACCACCAGTTG GGGAATAAATGAGTAAACATAAAGTCTTCTTTGCCAACATAGAAAAAAGT AGGGGTATAATATCTGAGAACACATTGTTTGCATTTTGTTATTAAAAAAA AAAACAAAGGGACAAATAAATAAGCATGAACATTTTCACTACTACCAACT TATATTAATTACCATGGAATTTCATATGTATTTATTAATACAGTCAACCA TTCCTTCTAAAGAAATGCAATAGACACAGGAAAAAAAAACCCATAGCATT GTATCAGCTAGTTTGTTTTGAACATCCAGCATATGCATGTAAAAAGAGT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0221	1	378	0.0027	-848	c.166 others(18): Show c.1663+925_1663+1772del		DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	11/15						chr18	TogoVar
ERC1_chr12_986223_1500931	1087199	ATTGTTGT others(841): Show ATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGG CCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAA TATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGC TGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGT TGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCAT TATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGC CTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGA TTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTG TTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTA TTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATG CCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACA GGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGTT GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCATTATTATTATTGTTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0076 a0002c0002t0076	a0002c0002t0076g0146 a0002c0002t0076g0146	1	162	0.0062	-848	c.108 others(19): Show c.1086+3737_1086+4584del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FILIP1L_chr3_99823811_100119501	99909937	GTCATCTG others(841): Show GTCATCTGACCAAAATGAGTGAGAAATTTCAGTTCTCGGGGCAAAATGTG TATTCAGAGCTGAAATTTTGTTTAAGAATAAGGCTGATTACTTAACAGTG AAGGGCTTCAGTGTGGGGTCAGCTCACCCTCATTGCACTTTCAAGTATAA TATTAGGTATTCTTAGATGTCCAGAACCTGTGAAATTCTTAATAGAGTTG GTTTATACGTAATTTCTATTCTTTGACTTACAAGAACTTAAATCTTGTCT AAAAACCTGTATGGATTTCAAAGGCTTAGAGAGGATTAAAAGGCTATAAA AATTTAAATAACTTCATCCAGTGAGTATGTTTACCTAAATGTGTCATCAA ACTTCTCAGCTTTCTGGTTAGAAAACTGGTTTGGGACACACTGACTCACA CTGTCGACTGATAGAATGCAAACACATTCAGAATTCTCCTGGCAAGACTA ATGTAACAAAAACAGGGTTCTGTGAGCTTTTAGAGGTGAAATGTTTCATT TCTTTAATAAATCTTCCTATCACTGAGAGCTTTTAAAGTAAACAAACACA TGTCTTCACAGTTGTTAGGTGCTAGGTGAAGTGGCAGATGCATGTTGTTA TATCCAGTACCCCTTACCACTTTCCAAGGAAACAATTTTTGTAGGTAACC TGGGGAGTATTATGTTTTAGCCCTTAGGCTGAAAAAAAGTAATACGCTAT AATTCTAACTATTATCTCCATATGTAAATAAACATTTTATGGGGTTTATA TTTTCCCTTTGGCCTATAGATCTCAAATTCTTTGCCCAAATAGTTACCCA TACTCTTCTCAGAACCCTCATGCAAGAAAGTAGATAACTAGAATATTTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(73): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01123.hp1 HG01192.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03130.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18943.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18981.hp2 NA19007.hp2 NA19065.hp2 NA19083.hp2 NA19086.hp1 NA19088.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0008 a0006c0009 a0002c0002 a0002c0008 a0006c0009	a0002c0002t0002 a0002c0002t0020 a0002c0008t0002 others(1): Show a0002c0002t0002 a0002c0002t0020 a0002c0008t0002 a0006c0009t0002	a0002c0002t0002g0001 a0002c0002t0002g0039 a0002c0002t0002g0042 others(72): Show a0002c0002t0002g0001 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0054 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0147 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0197 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0020g0153 a0002c0008t0002g0053 a0006c0009t0002g0223	76	258	0.2946	-848	c.605 others(19): Show c.605+13445_605+14292del		FILIP1L	ENSG00000168386.19	transcript	ENST00000477258.2	protein_coding	4/5						chr3	TogoVar
FUT2_chr19_48690971_48710951	48700582	TGGCCTCC others(841): Show TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCA GCTACCATTTCTTAGCTGTATCATCTCACGGTCCCAAAAGGGCTGCTACA CATCCAGCCATCACATGCAGATAATTTCTTTCAAAAACAGCAGAAAGAGG CTCGTTCTTGTCTTGGTCCCTTTTGAAGAATGAATGAAACCTTCCTAAGC CTTCCAGCAACTCCCCCCACAACTCCGATGGGTAGGAATTGTCACATAAC CATGTGGCCCGATAGGAGGCAAAAGAAATGAGACTTCTGGGATTAGTTTA GCCTCAGATTCTGCAGCTGAGAAGTTGATCAGCCACCTCTGAAGGACAAG CAGCTTGCAGAAAATTAGGGTGGTGTTACCAAGGAGAAAAGGGGAAATGG CTTTAGAGTAGACAACAGGGATGCCCTGAGGGGTTGTGTAGGTTGTTCAC TGCACGAAGTCCCCTGGTCAAGAAGGTAAGCGGGGTTTAAACAGACCCAC AGTCTACTCATCAAACCAGGTGTCCTTGGCATTGTGTCCACCCAGAGAGC TCACTATTTTCTTTTCTTTTCTTTTCTTTTTTTGAAATGGAGTCTTGCTG TGTCCCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAGCCTC CGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTTCAAGC AATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCGTCCGCCA CCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGCCTTGTCATG TTGGCCAGGTTGGTCTCCAGCTCCTGACCTCAGCTAATCTGCCCACCTC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0089 a0003c0003t0001g0089	1	394	0.0025	-848	c.-2- others(15): Show c.-2-2328_-2-1481del		FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr19	TogoVar
NRIP1_chr21_14956235_15070000	15030925	GTACACTC others(841): Show GTACACTCTGGAAGGCACTCAGAGGATCACCACATTCCCTTTCTATGTGT GTACACTCTGGAAGGTGTTCAGAGGTTCACCACATTCCCTTTCTATGTGT ATACTCTGGAAGGCGGTTGGAGGTTCACTACATTCCCTTTCTATGTGTGT ACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGTAT ACACTCTGGAAGGCGCACGGAGGATCACCACATTCCCTTTCTATGTGTGT ACACTCTGGAAGGCGTTCAGAGGTTCACCACATTCCCTTTCTATGTGTAT ACACTCTGGAAGGTGGTTGGAGGTTCACCACATTCCCTTTCTATGTGTAT ACACTCTGGAAGGCGGTTGGAGGTTCACCACATTCCCTTTCTATGTGTAT ACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTGTGTGTAT ACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGTAT ACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGTGT ACACTCTGGAAGGCGTTCAGAGGTTCACCACATTCCCTTTCTATGTATAT ACACTCTGGAAGGCGGTTGGAGGTTCACCACATTCCCTTTCTATGTGTAT ACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGTAT ACACTCTGGAAGGCGCTCGGAGGATCACTACATTCCCTTTCTATGTGTAT ACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGTAT ACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0184 a0006c0008t0001g0184	1	398	0.0025	-848	c.-45 others(21): Show c.-458+11722_-458+12569del		NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3						chr21	TogoVar
RPH3AL_chr17_207389_357807	287529	TCTCTCCA others(841): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCAC ACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGAGC TCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGA CAGACCTCGCACCCTCTCTCTCCACCGACAGACCTCGCACTCTCTCTCCA CCGACAGACCTCGCACGCTCTCTCTCCACCGTCAGACCTCACACTCTCTC TCCACCGTCAGACCTCACTCCCTCTCTCCACCGACAGACCTCACACTCTC TCTCCACCGACAGAGCTCACACTCTCTCTCCACCGTCAGACCTCACTCTC TCTCTCCACCGTCAGACCTCCCACCCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTC ACTCCCTCTCTCCACCGTCAGACCTCACTCCGTCTCTCCACCGTCAGACC TCGCACCCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCA GACCTCACTCCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGT CAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCA CCGTCAGGCCTCACACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTC CACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTC TCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGCACC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19043.hp1 HG02165.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0034 a0001c0001t0008g0113 a0001c0001t0003g0034 a0001c0001t0008g0113	2	133	0.0150	-848	c.352 others(17): Show c.352-6523_352-5676del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
AUTS2_chr7_69593475_70798506	70495780	ACACACAC others(840): Show ACACACACACACACCCCACACATGCACACGTCACATCAGCATCGATCACA CACCCCACTCACACCACGTACACAAACACACACACGCCCCACACATGCAC ATGTCACATCAGCGTCGATCACACATCCCACTCACACACACCACGTACAC AGTCACACACACACACCCCACACATGCACACGTCACATCAGCATCGATCA CACACACCACTCATACCACATACACAGTCACACACACACACCCCCCCCAC ACACATGCACACGTCACATCAGCATCTATCACACACCCCACTCACAGACA CCACATACACAGTCAGACACACACCCCACACATGCACACGTCACATCAGC ATCGATCACACACCCCACTCACACACACCACGTACACAGTCACACACACA CACACCCCACACATGCACACGTCACATCAGCATCGATCACACACACCACG TACACAGTCACACACACACACACACCCCACACATGCACACGTCACATCAG CGTCGATCACACACCCCACTCACACACACCACGTACACAGTCACACACAC GCACACCCCACACATGCACATGTCACATCAGCGTCGATCACACACCCCAC TCACACACACCACGTACACAGTCACACACACACCCCACACATGCACATGT CACATCAGCATCGATCACACACACCACGTACACAGTCACACACACACACA CCCCACACACATGCACACGTCACATCAGCGTCGATCACACACCCCACTCA CACACACCACGTACACAGTCAGACACACACACACACCCCACACATGCACA CGTCACATCAGCATCAATCACACACCCCACTCACACCACGTACACAGG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0007 a0005c0011t0007	a0005c0011t0007g0004 a0005c0011t0007g0004	1	76	0.0132	-847	c.690 others(19): Show c.690+60073_690+60919del		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
FHIP1A_chr4_151404176_151675503	151419553	GGTCTGTT others(840): Show GGTCTGTTCCTCATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGCTAGTTAC ATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATC TAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCC ACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTC ATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTG TTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCC CTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATG GTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTT GGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATAC GTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATA CCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCT GAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCC ACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTG TTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATA TCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGC ATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(127): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18953.hp1 NA18954.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp2 NA19006.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19240.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0007 a0010 a0013	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0004 a0003c0003 a0006c0015 a0007c0014 a0010c0018 a0013c0013	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(38): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0046 a0001c0001t0048 a0001c0001t0060 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0014 a0001c0002t0016 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0002t0038 a0001c0002t0041 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0047 a0001c0002t0062 a0001c0005t0017 a0001c0006t0002 a0002c0004t0042 a0003c0003t0015 a0006c0015t0020 a0007c0014t0020 a0010c0018t0002 a0013c0013t0026	a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 others(127): Show a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0006g0028 a0001c0001t0006g0034 a0001c0001t0006g0042 a0001c0001t0006g0054 a0001c0001t0006g0063 a0001c0001t0006g0068 a0001c0001t0007g0001 a0001c0001t0007g0002 a0001c0001t0007g0003 a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0021g0118 a0001c0001t0021g0119 a0001c0001t0022g0006 a0001c0001t0022g0025 a0001c0001t0026g0012 a0001c0001t0027g0011 a0001c0001t0027g0065 a0001c0001t0033g0124 a0001c0001t0034g0097 a0001c0001t0035g0114 a0001c0001t0036g0109 a0001c0001t0037g0246 a0001c0001t0039g0056 a0001c0001t0040g0009 a0001c0001t0046g0067 a0001c0001t0048g0007 a0001c0001t0060g0008 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0046 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0055 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0064 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0006g0024 a0001c0002t0006g0039 a0001c0002t0006g0041 a0001c0002t0007g0083 a0001c0002t0008g0047 a0001c0002t0008g0069 a0001c0002t0008g0084 a0001c0002t0008g0085 a0001c0002t0008g0093 a0001c0002t0014g0050 a0001c0002t0014g0073 a0001c0002t0014g0089 a0001c0002t0016g0079 a0001c0002t0016g0080 a0001c0002t0016g0081 a0001c0002t0023g0029 a0001c0002t0023g0030 a0001c0002t0024g0016 a0001c0002t0024g0026 a0001c0002t0025g0017 a0001c0002t0025g0027 a0001c0002t0038g0082 a0001c0002t0041g0211 a0001c0002t0043g0062 a0001c0002t0044g0045 a0001c0002t0045g0066 a0001c0002t0047g0074 a0001c0002t0062g0048 a0001c0005t0017g0247 a0001c0005t0017g0248 a0001c0005t0017g0249 a0001c0006t0002g0023 a0001c0006t0002g0072 a0002c0004t0042g0010 a0003c0003t0015g0013 a0003c0003t0015g0014 a0003c0003t0015g0015 a0006c0015t0020g0110 a0007c0014t0020g0096 a0010c0018t0002g0053 a0013c0013t0026g0210	130	252	0.5159	-847	c.-35 others(21): Show c.-356+10106_-356+10952del		FHIP1A	ENSG00000164142.16	transcript	ENST00000435205.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
HSD17B14_chr19_48808018_48841491	48834421	TTGGACTC others(840): Show TTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGG GCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTG GACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCT GAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGC CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTC CTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGG AGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTG GGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGTGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGT CCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGG TGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCC	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19000.hp2 NA18998.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0038 a0001c0001t0001g0039	2	394	0.0051	-847	c.127 others(14): Show c.127+537_128-64del		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834421	TTGGACTC others(840): Show TTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGG GCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTG GACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCT GAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGC CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTC CTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGG AGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTG GGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGTGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGT CCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGG TGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0011 a0007c0009t0001g0011	1	300	0.0033	-847	c.20 others(11): Show c.2021_*2867del		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2675		chr19	TogoVar
SIGIRR_chr11_400716_419999	411859	GACCATGT others(840): Show GACCATGTCTGGATACAGTCGGGGAGGGGGGTGCCCAGCTCTGACCATGT CTGGATACAGTCGGGGGGGGGGGGTGCTCAGCTCTGACCATGTCTGGATG CAGTCGGGGAGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTGGGG GGGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGTGC CCAGCTCTGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGAC CATGTCTGGATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGA TACAGTCGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGG GAGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAG CTCTGACCATGTCTGGATACAGTCGGGGGGGGGGTGCCCAACTCTGACCA TGTCTGGATGCAGTCGGCGGGGGTGCCCAGCTCTGACCATGTCTGAATGC AGTCGGGGAGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGG GGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGCGGGGGGGGGTGCT CAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCAT GTCTGGATACAGTCGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATAC AGTCGGGGGGGGGTGCCCAGCTCTGAACATGTCTGGATACAGTCGGGGGG GGGTGCCCAGCTCTGAACATGTCTGGATACAGTCGGGGAGGGGTGCTCAG CTCTGACCATGTCTGGATACAGTCGGGGGGGGGGGGTGCCCAGCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03540.hp2 NA21309.hp1 HG02717.hp2 HG03540.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0004g0238 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0004g0238	3	242	0.0124	-847	c.-15 others(19): Show c.-154+2117_-153-1833del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9						chr11	TogoVar
SRGAP2B_chr1_144882288_145100328	144882892	GCAAAAAG others(840): Show GCAAAAAGCCGGGTCGGGCAAAAAGCCGCGTCGGCGGGGGGGAAAAAGCC GCGGCGGCAAAAAGCCGGGTCGGGCAAAAAGCCGCGGAGGCAAAAAAAGC CGCGGTGGCAGGGGGCAAAAAGCCGCGGCGGGCAGAAAGTCCTGGGGGCG GGGGGCAAAAAGCCACGGCCGGCAAAAAACCGCGGCGGCAGGGGGCAAAA AGCCGGGTCTGGCAAAAAGCCGTGGAGGCAAAAAGCCGCGGTGGGCAGAA AGCCATGGCGGCGGGGTGCAAAAAGCCGCAGCGGGCAGAAAGCCGCGGCG GGGGGGCAAAAAGCCGCGGCCCGCAAAAAGCAGCGGCGGCGGGGGTGCAA AAAGCCGCTGCGGGCAAATAAGTGCGGCACCGGCGGGGGGGGTAAAAGGC CGGGTCGGGCAAAAAGCCACGGCGGCGGGGGTGCAAAAAGCCACAGCGGC GCGGGGGAAAAAGCCGTGGCGGGCAGAAAGGCGCGGCGGCGTGGGGGAAA AAGCCGCGGCGTTGGGGGCAAAAAGCCGCGGTGGCGGGGGGGCAAAAAGC TGCGGTGGCGGGGGGGCAAAAAGCCGTGACCGGCAAAAAGCCGTGGTGGC GGGGAACAAAAAGCCGCGGCGGCGGGGGCGGGCAAAAAGCCGGGGCGGGC AAAACCCCGAGGCGCCGTGGGGGCAAAAAGCCGGGGCGGGCAAAAAGCCG GGGCGGGCAAAAACCCGCGGCGGCGGTGGGGCAAAAAGCTGGAGCGGGTA AAAAGCCGCGGCAACAAAAAGCCTCGGCGGCGGGGGCGCAAAAAGCCGCG GTGGGCATAAACCCGAGGCGGCGGGGGGGGGGGGGTGCAAAAAACCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0054 a0003c0003t0004g0055 a0003c0003t0004g0054 a0003c0003t0004g0055	2	56	0.0357	-847	c.84 others(11): Show c.8421_*9267del		SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding					4395		chr1	TogoVar
ADARB2_chr10_1172313_1742525	1239182	CCCCCCTG others(839): Show CCCCCCTGCCTCCCGGAGTTTACTCCCCTCTCCCTCTCCCTCCCGGTGTT TACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTCCCTCCCGGTGTTTACTC CCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGCTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCG GTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGT GTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTC CCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0083 a0001c0001t0054g0083	1	106	0.0094	-846	c.136 others(19): Show c.1361+2103_1361+2948del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
C7orf50_chr7_992006_1143247	1128367	TCACCCGG others(839): Show TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGG GCTGGAGTGCAGTGGCACAATCTCGGCTCATCTCACCGTCACCCGGGCTG GAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGT GCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAG TGGCGCCATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGC ACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGA TCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCGCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTC GGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGG CTCATCCCACCATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCA TCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATC CCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCC ACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCA TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCAC CTGGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCGG GCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03579.hp1 HG02818.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0212 a0001c0001t0005g0227 a0001c0001t0005g0212 a0001c0001t0005g0227	2	326	0.0061	-846	c.-1- others(14): Show c.-1-1827_-1-982del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
CCDC200_chr17_43216420_43233623	43232777	GCCCAGAG others(839): Show GCCCAGAGAAGGGCCGCTGGAGGGCTCCTTGGCCTAGCGGTAATGCCAGT GCCTGGGAAGGCCCTGGTTACTTAGCAGGCCTTGGTCTAGCGGTGGCCCC AGTGCCTGGGAAGGCACCCGTTACTTAGCAGAATTACTACGCAGCCATAA AAAAGGATGAGTTCATGACCTCTGCGGGAACGTGGAGGGAGGAAAAGGCC TCATTCTCAGCAAACTGACACAGGAAGCGAAAACAAACACCGCATGTTCT CGCTCCTAAGTGGGAGTTGAACAGCGAGAACACATGGGACACAGGGAGGG GAACATCACACGCCGGGCCCTGACGGGGCGTGGGGGGCAAGGGGAGAGAG AGCATTAGGACAAATAGCCAACGCATGCGGGGCTTCAAACCTAGACGACT GGTGGATAGGTGCAGCAAAGCACCGTGGCACACGTGTACCTATGTTCCAA ACCTGCACGTCCTGCACATGTACCCCAGAACTTGGGAGGGGGTGGGGGAA ACCAAAAGAGCGAGGGAGAGGCGGGGGGGGGGAAGAGAGAGAGAGAGGGA AAGAGAGAGAGAGACAGAGAGAGGAGAGAGAGAGAGAGAGAGAGACAGAG AGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGACGGAGAGACAGAGAG AGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAG GAGAAAGAAGAACTCCGGGTGGGTCCCATTCCTTTAAAAGGTCGCCACCC ACTCGACTGCCAAGCTGAGATCCTAAGGACCTCCCCAAAGGAGGAGGTCG TGGCCTTCCCAAAGCGCAGTAGCCACGGTGGAAACGACAGCGTGCCG	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	334	0.0030	-846	c.-50 others(11): Show c.-5069_-4224del		CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding					4155		chr17	TogoVar
ECSCR_chr5_139443560_139467743	139452831	NNNNNNNN others(839): Show NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNGTGTGGGGCATGTGTATA	N N	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	369	0.0027	-846	c.512 others(16): Show c.512+926_512+1771del		ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	8/9						chr5	TogoVar

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