Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	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
TEX29_chr13_111315642_111349248	111340261	A A	AATCATAA others(1111): Show AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATA ACCCATGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCCTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCATCT GTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACC TGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTT GTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATG AAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCA TAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCG TGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAG TGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCAC CTGTGCCTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCC TGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGAT GAACATCATTACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATC ATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCC GTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTA GTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCA CCTGTGCTTGTTGATGAAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01106.hp1 others(4): Show HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG02293.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0123 a0001c0002t0001g0006 a0001c0002t0002g0006 a0001c0001t0001g0123 a0001c0002t0001g0006 a0001c0002t0002g0006	7	416	0.0168	1118	c.239 others(1133): Show c.239+382_239+383insATGTTTAGTGAGCACCTGTGCTTGTTGATG AAAATCATAACCCCTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCA TAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCG TGTTTAGTGAGCATCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAG TGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCAC CTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCT TGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGAT GAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATC ATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCC GTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTA GTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCA CCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGC TTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGA TGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAAT CATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACC CGTGTTTAGTGAGCACCTGTGCCTGTTGATGAACATCATAACCCGTGTTT AGTGAGCACCTGTGCCTGTTGATGAACATCATAACCCGTGTTTAGTGAGC ACCTGTGCTTGTTGATGAACATCATTACCCGTGTTTAGTGAGCACCTGTG CTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTG ATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACA TCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAAC CCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTT TAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCC		TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111340261	A A	AATCATAA others(1111): Show AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATA ACCCATGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCCTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCATCT GTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACC TGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTT GTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATG AAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCA TAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCG TGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAG TGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCAC CTGTGCCTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCT TGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGAT GAACATCATTACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATC ATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCC GTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTA GTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCA CCTGTGCTTGTTGATGAAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01496.hp2 HG00738.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0102 a0001c0002t0003g0259 a0001c0002t0001g0102 a0001c0002t0003g0259	2	416	0.0048	1118	c.239 others(1133): Show c.239+382_239+383insATGTTTAGTGAGCACCTGTGCTTGTTGATG AAAATCATAACCCCTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCA TAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCG TGTTTAGTGAGCATCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAG TGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCAC CTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCT TGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGAT GAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATC ATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCC GTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTA GTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCA CCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGC TTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGA TGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAAT CATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACC CGTGTTTAGTGAGCACCTGTGCCTGTTGATGAACATCATAACCCGTGTTT AGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGC ACCTGTGCTTGTTGATGAACATCATTACCCGTGTTTAGTGAGCACCTGTG CTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTG ATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACA TCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAAC CCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTT TAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCC		TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111340992	A A	AATCATAA others(1111): Show AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACC TGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTT GTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATG AACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCA TAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCG TGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAG TGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCAC CTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCT TGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGAT GAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATC ATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCC GTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTA GTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCA CCTGTGCTTGTTGATGAAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0252 a0001c0002t0001g0252	1	416	0.0024	1118	c.239 others(1135): Show c.239+1062_239+1063insCATAACCCGTGTTTAGTGAGCACCTGTG CTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTG ATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACA TCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAAC CCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTT TAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAG CACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGT GCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTT GATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAA ATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAA CCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGT TTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGA GCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTG TGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGT TGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAA AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA ACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACAT		TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr13	TogoVar
TTLL11_chr9_121810674_122098308	121895759	T T	TTGTGTGT others(1111): Show TTGTGTGTGTCCGTAAGTGTGGTTGTGTGGGTTTGTGTGACTGTGATTGT ATCTGTGTGTGTCCGTGTGTGTGGTTGCGTTTGTGAGTGTGTCTGTGTGT ATGTGTGGGTGTGTGTGGATGTTTGTGTGTGTGTGAATGTGTGGGTGTGT GTTTGTGTGTCTGTGGGTGTGTGTTTGTGTGTCTGTGTGGGTGTGTTTTG TTTTTGTGTGTGTGGATGTGCGGGTGTGTTTTGTGTGTCTGTGTGTGGAT GTGTGGGTGTGTTTCGTGTGTTTGTGTATCTGTGGATGTGTGGGTGTGTT TTGTGTGTGTGGATGTGCGGGTGTGTTTTGTGTGTCTGTGTGTGGATGTG TGGGTATGTTTTGTGTGTGTGTATCTGTGTATGTGTGGGTGTGTTTTGTG TGTTTCTGAGTGTGTGTCTGTGTGGATGTGTGGGTGTGTGTCTGTGTGGG GGTGTTTTGTGCAGTGGTGTGTCTGTGTGTGGATGTGTGGGTGTGTTTTA TATGTGAGTGTGTATGTGTGGGTGTGTTTTGTGTGTGGGTGTGTGTCTGT GCTTATGTGTGGGTGTGTCTGTGTGTGTGGATGTGTGGGTGTGTTTGTGT GTTTGTGGATGTGTGGGTGTGTTTTTTGTGTTTGTGTGTAGATGTGTGGG TGTGTGTATATGTGGGTGTGTTTTGTGTTTGTGAGTGTGTGTAGATATGT GGACGTGTTTTGTGTGTGTGTGGATGTTTTGTGTGTGTGTATGTGTGGGT GTTTGTGTGTGCGAATGCGGTTGTATGGGTTTGTGTGACTGTGTGTGATG TGTGTGTTCATTTGTGTGTTTGTGTGTGTGTGGATGTGTGGGTGTGGGTG TGGATGTGTAGGTGTGTTGTTTGTGGGTGTGTTTGTGTGTATGTGTGGGT GTATTTGTGTGTCTGTGTGTAGATGGGTGGCTGTGGGTGTGTGTGGCTGT GTGTGTTTTGTGTGTGTGTCTGTGTGGATGTGTGGGTGTGTGTTTGTGTC TGTGTGAGTGTGTTTGTGTCTGTGTGTGGATGTGTGGGTGTAGTGTTTGT GAGTGTGAGTCTGTGTCGTGTGCTTTGTGTGTTTGTGTGGATGTGTGGGT GTGTTTGTGTGTGTGGATG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	174	0.0058	1118	c.148 others(1139): Show c.1482-25012_1482-25011insCATCCACACACACAAACACACCCA CACATCCACACAAACACACAAAGCACACGACACAGACTCACACTCACAAA CACTACACCCACACATCCACACACAGACACAAACACACTCACACAGACAC AAACACACACCCACACATCCACACAGACACACACACAAAACACACACAGC CACACACACCCACAGCCACCCATCTACACACAGACACACAAATACACCCA CACATACACACAAACACACCCACAAACAACACACCTACACATCCACACCC ACACCCACACATCCACACACACACAAACACACAAATGAACACACACATCA CACACAGTCACACAAACCCATACAACCGCATTCGCACACACAAACACCCA CACATACACACACACAAAACATCCACACACACACAAAACACGTCCACATA TCTACACACACTCACAAACACAAAACACACCCACATATACACACACCCAC ACATCTACACACAAACACAAAAAACACACCCACACATCCACAAACACACA AACACACCCACACATCCACACACACAGACACACCCACACATAAGCACAGA CACACACCCACACACAAAACACACCCACACATACACACTCACATATAAAA CACACCCACACATCCACACACAGACACACCACTGCACAAAACACCCCCAC ACAGACACACACCCACACATCCACACAGACACACACTCAGAAACACACAA AACACACCCACACATACACAGATACACACACACAAAACATACCCACACAT CCACACACAGACACACAAAACACACCCGCACATCCACACACACAAAACAC ACCCACACATCCACAGATACACAAACACACGAAACACACCCACACATCCA CACACAGACACACAAAACACACCCGCACATCCACACACACAAAAACAAAA CACACCCACACAGACACACAAACACACACCCACAGACACACAAACACACA CCCACACATTCACACACACACAAACATCCACACACACCCACACATACACA CAGACACACTCACAAACGCAACCACACACACGGACACACACAGATACAAT CACAGTCACACAAACCCACACAACCACACTTACGGACACACACA		TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8						chr9	TogoVar
U2AF2_chr19_55650035_55679716	55670449	C C	CCCGTGCA others(1111): Show CCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCC GTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCT GCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTG CACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTG CACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCT GCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTG CTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGCCCGTGCACCCTGC TGCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGC TGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGC TGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGC TGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGC TGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCT GTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCT GTCCCGTGCACCCTGCTGT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0018 a0001c0002t0002g0018	2	394	0.0051	1118	c.129 others(1135): Show c.1293+775_1293+776insGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTG TCCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTC CCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCC CGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCC CTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC GTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTG CACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACC CTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGCCCGTGCACCC TGCTGCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCC TGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCC TGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCC TGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCC TGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCT GCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCT GCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCC		U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
VCX3A_chrX_6528618_6540118	6533242	A A	ACACCACC others(1111): Show ACACCACCTCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCTCCCCACA CACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTCCTCCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCA CCTCTCCTCCCTCCCCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCC TCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCCACACACCTCCTCTCCTCCCTCCCTCCCTCCCCACAC ACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCC TCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTC CTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCC CACACACCTCTTCTCCCTCCCTCCCCACACACCTCCTCTCCTCCCTCCCT CCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTC CTCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCTCCCC ACACACCTCTCCCTCCCTCCCTCCCTCCCCACACACCTCTCCTCCCTCCC TCCTCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTC CTCCCTCCCTCCTCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACA CACCTCTTCCTCCCTCCCTCCCCCCACACACACCACCTCCTCCCTCCCTC CCTCCCCACACACTTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCT CCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCC TCCCTCCCTCCCCACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	74	0.0135	1118	c.50 others(1127): Show c.502_*503insGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAAGTGTGTGGGGAGGGAGGGAGGGAGGAGGTG GTGTGTGTGGGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGAGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGAGGAGGGAGGGAGGAGAGGTG TGTGGGGAGGGAGGGAGGGAGGGAGAGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAGAGGA GGTGTGTGGGGAGGGAGGGAGAAGAGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGGAGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGAGGTGTGTGGGGAGGGGGGAGGGAGGAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAGAGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGGAGAGGTGGTG		VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding					375		chrX	TogoVar
ZNF774_chr15_90347284_90367847	90357016	T T	TTGAAGTA others(1111): Show TTGAAGTATAATTTTTTTTTTTTAATTTATTTATTTTTTTTTTTATTGAT CATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAA TAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTT TCCTAGGCAGAGGACCCTGCGGCCTTGGCCTTCTGCAGTGTTTGTGTCCC TGGGTACTTAAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCC TTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTT AACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGATA AGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAG AACAAAATGAAAAGTCTCCCATGTCTACTTCTATCCACAGAGACCCGGCA ACCATCCGATTTCTCAATTTTTTCCCCACCCTTCCCGCCTTTCTATTCCA CAAAACCGCCATTGTCATCATGGCCCATCCCCAATGAGCCGCTGGGCACA CCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAAGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCACCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGACGGCCGGGCAGAGGCGCCC CTCACCTCCTGGATAGGGCGGCTGGCTGGGCGGGGGGCTGTCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGACGGGCAGAGGGGTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCG GCCGGAAGGGGGGCTGACCCCCCCCACTTCCCTCCCGGATGGGGCGGCTG GCCGACCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGTCTCCTCACTTTCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGACTGGCCAGGCGGGGGGCTGATCCCCCCACCT CCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0171 a0001c0001t0019g0171	1	416	0.0024	1118	c.105 others(1135): Show c.105-1821_105-1820insTTTTTTTTAATTTATTTATTTTTTTTTT TATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCAT AGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCT CTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTGGCCTTCTGCAGTGTTT GTGTCCCTGGGTACTTAAGATTAGGGAGTGGTGATGACTCTTAACGAGCA TGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAA TCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTT GGGGATAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTT AGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTATCCACAGAGA CCCGGCAACCATCCGATTTCTCAATTTTTTCCCCACCCTTCCCGCCTTTC TATTCCACAAAACCGCCATTGTCATCATGGCCCATCCCCAATGAGCCGCT GGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAAGCGCCCCTCACCTCCCGGATGGGGCG GCTGGCCGGGTGGGGGGCTGACCCCCCCACCACCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGACGGCCGGGCAGA GGCGCCCCTCACCTCCTGGATAGGGCGGCTGGCTGGGCGGGGGGCTGTCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGACGGGCAGAGGGGTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCCGGCCGGAAGGGGGGCTGACCCCCCCCACTTCCCTCCCGGATGGG GCGGCTGGCCGACCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGTCTCCTCACTTTCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGACTGGCCAGGCGGGGGGCTGATCCC CCCACCTCCCTCCCGGACGGGGCGGCTGAAGTATAATTTT		ZNF774	ENSG00000196391.11	transcript	ENST00000354377.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr15	TogoVar
CACNA1C_chr12_2047987_2702950	2539500	G G	GCTTCATA others(1112): Show GCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAA AGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGG CAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTA AGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAA GGAGGCCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTT CATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGAT GCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGAAAGATGCAGG CAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTA AGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAA GGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTT CATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGAT GCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGAAAGATGCAGG CAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTA AGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAA GGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTT CATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGAA AGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGG CAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTA AGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAA GGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTT CATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGAT GCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGG GTTTAAGGACTTAAGGAGGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0019 a0001c0029t0019	a0001c0029t0019g0060 a0001c0029t0019g0060	1	104	0.0096	1119	c.139 others(1140): Show c.1391-10402_1391-10401insCTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGT TTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGCCTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCA GGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAG GACTTAAGGAGGGTTTCATAAAGAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC TTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCA GGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAG GACTTAAGGAGGGCTTCATAAAGAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC TTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCA GGGTTTAAGGACTTAAGGAGGGCTTCATAAAGAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC TTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCA GGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAG GACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGG AGGCCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGG		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(1112): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGCCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAT TGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGT GAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATT GATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTG AGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTG ATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGA GAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGA TCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAG AAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGAT CAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGA AGGCTCAGGCATTGATCAGC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0069 a0001c0002t0015g0069	1	214	0.0047	1119	c.565 others(1136): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGCCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAT TGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGC		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10						chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(1112): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAT TGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGT GAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATT GATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTG AGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTG ATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGA GAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGA TCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAG AAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGAT CAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGA AGGCTCAGGCATTGATCAGC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0214 a0001c0002t0052g0214	1	214	0.0047	1119	c.565 others(1136): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAT TGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGC		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10						chr10	TogoVar
CFAP20DC_chr3_58737008_59055025	58798137	T T	TAAGAAAT others(1112): Show TAAGAAATACATTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCC TACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGG TGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTG GGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACG TGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATAC CCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTG AGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCA CCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGT TGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATAT CTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCA TTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTC TGTTCATGTCCTTCACCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTG TAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGA TGAGTAGGTTGCGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTC TGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCC CATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCAT TGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0180 a0002c0003t0001g0180	1	204	0.0049	1119	c.223 others(1138): Show c.2237+8257_2237+8258insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATG TGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGC GCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTA TCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCC CCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAG AATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGAT AAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCT AATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGA ACAGGCAACCTACAACATGGGAGAAAATTTTCGCAACCTACTCATCTGAC AAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAA AAAAACAAACAACCCCATCAAAAAGTGGGTGAAGGACATGAACAGACACT TCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCA TCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCA TCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGT GCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGAC TGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGA TCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATAT ACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATG TTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATG TCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGG AATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACA TGGATGAAATTGGAAACCATCATTCTCAGTAAATGTATTTCTT		CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16						chr3	TogoVar
FBXL14_chr12_1560993_1599581	1574377	G G	GGTGTGGA others(1112): Show GGTGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCACTGTGGATG GAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCCGTGTGGGTGGAGGCTGGG GTGAGGGGAGGCTAGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGA GGCTGGGGTGGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTG AGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGTGAGGGGAGGC TGGGGTGGGGGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTG GGGGAGGCTGGCGGCAGCAGTGTGGATGGAAGCTGGGGTGAGAGGAGGCT GGTGGCAGCAGTGTGGATGGAAGCTGGGGTGAGAGGAGGCTGGTGGCAGC AGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGGGGGAGGCTGGT GGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCA GCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGTGGTGTGG GTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCT GGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGG GAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGT GGCAGCGGTGTGGATGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGT GTGGGTGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGATGGA GGCTGGGGTAGGGGAGGCTGGCGGCAGCAGCGGTGTGGGCGGAGGCTGGG GTGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGA GGCTGGCAGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGCAG CAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGT GGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGA GGCTGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTG AGGGGAGGCTGGTGGCAGCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02647.hp1 HG03195.hp1 others(4): Show HG01884.hp2 HG02647.hp1 HG03195.hp1 NA18945.hp1 NA19003.hp1 NA19080.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0002t0006 others(1): Show a0001c0001t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0012	a0001c0001t0001g0144 a0001c0001t0001g0194 a0001c0001t0001g0229 others(3): Show a0001c0001t0001g0144 a0001c0001t0001g0194 a0001c0001t0001g0229 a0001c0002t0005g0381 a0001c0002t0006g0042 a0001c0002t0012g0002	7	418	0.0168	1119	c.119 others(1138): Show c.1195-7568_1195-7567insTGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCACCCAGCCTCCACC CACACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCG CTGCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCA GCCTCCCCTCACCCCAGCCTCCATCCACACCGCTGCTGCCAGCCTCCCCT CACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGC CTCCGCCCACACCGCTGCTGCCGCCAGCCTCCCCTACCCCAGCCTCCATC CACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCGCT GCCACCAGCCTCCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGC CTCCCCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCA CCCCAGCCTCCACCCACACCGCTGCCACCAGCCTCCCCTCACCCAGCCTC CACCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACAC CACTGCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGC CGCCAGCCTCCCCCACCCCAGCCTCCACCCACACCGCTGCTGCCACCAGC CTCCCCCACCCCAGCCTCCCCTCACCCCAGCCTCCACCCACACTGCTGCC ACCAGCCTCCTCTCACCCCAGCTTCCATCCACACTGCTGCCACCAGCCTC CTCTCACCCCAGCTTCCATCCACACTGCTGCCGCCAGCCTCCCCCACCCC AGCCTCCACCCACACCGCTGCTGCCACCAGCCTCCCCCACCCCAGCCTCC CCTCACCCCAGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCACCCC AGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCACCCCAGCCTCCACC CACACTGCTGCCACCAGCCTCCTCTCACCCTAGCCTCCCCTCACCCCAGC CTCCACCCACACGGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATCCA CAGTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACAC		FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1						chr12	TogoVar
FHIT_chr3_59742277_61256452	60551500	G G	GGAAGAGG others(1112): Show GGAAGAGGTGAGATGGGAGGGGGGAGGAGGGGAGATGGGAGGGGGGAGGA GGGGAGGGGAGGGGAGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGAGGGG AAGAAGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGG GAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGG AGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAG AAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGG GAGGGGAAGGGGAGGGGAGAGGAGGGGGAGGGGAAGAAGGGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGGAGGGGGGAGGAGGGGAGGAGAGGGGAG GGGGAGGGGGGAGGAGGGGAGGAGGTGTGGGGGGAGGGTGGAGGGGGAGG GGAGGGGGAGGAGGGGAGGGGAGGGGAGGGGAGCGGGGAGGAGGGGAGGG GGAGGAGGGGAGGGGAGGGGAGGGGAGCAGGGAGGAGGGGAGCGGGGAGG AGGGGAGGGGGAGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGAGGGG AGGGGGAGGGGGAGGAGGGGAGGGGGGAAGGGAGGGGGAGGAGGGGGGAG TAGGGGAGGGGAGGGGGAGGAGGGGGGAGGAGGAGGGGAGGAGGGGAGGG GAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGGGGAGGAGGGGGAGGA GGGGAGGGGAGGGGGAGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGG GAGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGGGGAGGAGGGG GAGGAGGGGGGGAGGAGGGGGAGGAGGGGGGAGGAGGGGGAGGAGGGGAG GGGAGGGGGAGGAGGGGAGGGGAGGAGGAGGAGGGGAGGGGAGGGGGAGG AGGGGAGGGGAGGAGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGAG GGGGGAGGAGGGGGGAGGAGGGGAGGGGGAGGAGGAGAGGGGAGGGGGAG GAGGGGAGGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	46	0.0217	1119	c.-17 others(1138): Show c.-17-14522_-17-14521insTCCCCCTCCCCCCTCCCCTCCTCCCC CTCCCCTCTCCTCCTCCCCCTCCCCTCCTCCCCCCTCCTCCCCCCTCCCC TCCCCTCCTCCCCCTCCCCTCCCCTCCTCCTCCTCCCCTCCCCTCCTCCC CCTCCCCTCCCCTCCTCCTCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCC TCCTCCCCCTCCTCCCCCCTCCTCCCCCTCCTCCCCCCCTCCTCCCCCTC CTCCCCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCC TCCCCCTCCCCTCCCCTCCTCCCCCTCCTCCCCCTCCCCTCCCCTCCTCC CCCTCCTCCCCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCC CCTCCTCCCCTCCTCCTCCCCCCTCCTCCCCCTCCCCTCCCCTACTCCCC CCTCCTCCCCCTCCCTTCCCCCCTCCCCTCCTCCCCCTCCCCCTCCCCTC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCC CGCTCCCCTCCTCCCTGCTCCCCTCCCCTCCCCTCCCCTCCTCCCCCTCC CCTCCTCCCCGCTCCCCTCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCC CCTCCACCCTCCCCCCACACCTCCTCCCCTCCTCCCCCCTCCCCCTCCCC TCTCCTCCCCTCCTCCCCCCTCCCCCTCCCCTCTCCTCCCCTCCCCTCTC CTCCCCTTCTTCCCCTCCCCCTCCTCTCCCCTCCCCTTCCCCTCCCCTCC TCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCC CTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCC CTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTCC CCTCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTTCTTCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCC CCCCTCCCATCTCCCCTCCTCCCCCCTCCCATCTCACCTCTTC		FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9						chr3	TogoVar
GALR1_chr18_77244848_77282900	77252941	C C	CCACCATC others(1112): Show CCACCATCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCAC CACCACCACCACCACCACCATCACCATCACCACCATCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ATCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAT CACCATCACCACCACCATCACCACCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCATCACCACCATCACCACCACCATC ACCACCACCATCACCACCATCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCATCACCACCATCACCACCACCATCACCACCATCACCACCATC ACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCATCA CCACCACCACCATCACCACCATCACCACCATCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCATCACCACCACCAC CACCACCATCACCACCATCACCACCACCACCATCACCACCATCACCACCA TCACCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCA CCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0293 a0001c0001t0092g0293	1	366	0.0027	1119	c.666 others(1136): Show c.666+1732_666+1733insTCACCACCACCATCACCACCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACC ATCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCACCACCATCACCATCACCACCACCATCACCACCACCACCACCACCA CCACCACCACCACCATCACCATCACCACCACCATCACCACCACCACCACC ACCACCACCACCATCACCACCATCACCACCACCACCACCACCATCACCAC CATCACCACCACCATCACCACCACCATCACCACCATCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCAT CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCATCACCACCATCACCACCACCATCAC CACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ACCATCACCACCATCACCACCACCACCATCACCACCATCACCACCATCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCATCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATC ACCACCATCACCACCATCACCACCATCACCACCACCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCACCATCACCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTATTT others(1112): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0221 a0002c0002t0002g0221	1	394	0.0025	1119	c.41- others(1134): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA		HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1						chr14	TogoVar
HTRA3_chr4_8264754_8312098	8294667	T T	TACATCTG others(1112): Show TACATCTGTCCATCCATCCATCCACCCACCCACCTATCCACCCATCCATT CACCCATCCATTCATCCATCCGTCCATCCATCCATCCATCCATCCATCCA TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATC CATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCA CCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACC CATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATC CACCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCA TCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCC ATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCATCTTT CCACCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCATCCA CTTATCCACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATT CACTCATTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCA CCCACCCACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACC ATCCATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCAT CCATCTATCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATAC ATCCGCCCACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACAC CCATCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCC ATCCATCCATCCATCCACCCATCCATCCAATCATCCATTCATCCATCCAC TCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACC TTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCACCCA TCTTTCCACCTACCCATTTA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	388	0.0026	1119	c.105 others(1136): Show c.1051+466_1051+467insACATCTGTCCATCCATCCATCCACCCAC CCACCTATCCACCCATCCATTCACCCATCCATTCATCCATCCGTCCATCC ATCCATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCAT CCATCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCC ACCCACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCAC CCATCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCC ACTCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACA CCTTTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCA TTTACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCC ATCCACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCAT CCATCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATC CACCCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCC ATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTAT CCATCCATTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCC ACCCAGCCACCCATCCATCCACCCACCCACCCATCCACCCACACACCCAT CCATCCACCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTA TCCACCCATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATT CACTCATTCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCA CCCACCCATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATC TATCCATTCACCCACCCACCCATCCATCCATCCATCCACCCATCCATCCA ATCATCCATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATC CACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACCC ACCCATCTTTCCATCCACCCATCTTTCCACCTACCCATTTA		HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8						chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294675	T T	TACATCTG others(1112): Show TACATCTGTCCATCCATCCATCCACCCACCCACCTATCCACCCATCCATT CACCCATCCATTCATCCATCCGTCCATCCATCCATCCATCCATCCATCCA TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATC CATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCA CCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACC CATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATC CACCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCA TCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCC ATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCATCTTT CCACCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTA TCCACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACT CATTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCA CCCACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCC ATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCAT CTATCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCC GCCCACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCAT CCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCC ATCCATCCATCCACCCATCCATCCAATCATCCATTCATCCATCCACTCAT CCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACC TTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCACCCA TCTTTCCACCTACCCATTTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02015.hp1 HG02027.hp1 others(6): Show HG00423.hp1 HG02015.hp1 HG02027.hp1 HG02083.hp2 HG02559.hp1 HG06807.hp2 NA18967.hp2 NA18982.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0202 a0001c0001t0002g0012 a0001c0001t0002g0016 others(4): Show a0001c0001t0001g0202 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0196 a0001c0001t0002g0271	9	388	0.0232	1119	c.105 others(1136): Show c.1051+474_1051+475insACATCTGTCCATCCATCCATCCACCCAC CCACCTATCCACCCATCCATTCACCCATCCATTCATCCATCCGTCCATCC ATCCATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCAT CCATCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCC ACCCACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCAC CCATCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCC ACTCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACA CCTTTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCA TTTACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCC ATCCACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCAT CCATCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATC CACCCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCC ATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCAT CCATTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCC AGCCACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCAT CCACCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCA CCCATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACT CATTCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCA CCCATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATC CATTCACCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCA TCCATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATC CACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACCC ACCCATCTTTCCATCCACCCATCTTTCCACCTACCCATTTA		HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8						chr4	TogoVar
ICA1_chr7_8108184_8267167	8152669	C C	CATTATCT others(1112): Show CATTATCTCCTTCACCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTATCACCATCACCTCTTCCACCACTACCACCATCTCCTCCAC CACCACTACCACCACCACCACCATTATCTCCTTCACCACCACTACCCCCA CCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCACC ATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTC CACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCACCA TCACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTACCCCC ACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAA CACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACCA TCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATCACC ACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCAC CACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCA CCATCACCTCCACCACCACCACCATCTCCTTCAACACCACTACCCCCACC ACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCATCAC CACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCA TCTCCTTCAACACCACTACCCCCAGCACTACCACCATCACCTCTTCCACC ACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATTATCTC CTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCA CCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACT ATCACCATCACCATCACCTCCACCACCACCACCACCACCATCTCCTTCAA CACCACTACCCCCACCACTACCACCATCACCTCCTCCGCCACCATCACCA TCACCTCCACCACCACCACA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	274	0.0037	1119	c.804 others(1136): Show c.804+4446_804+4447insTGTGGTGGTGGTGGAGGTGATGGTGATG GTGGCGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGA GATGGTGGTGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGG GGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTG GAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAAT GGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAG AGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTG GTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAA GGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGG TAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTG ATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGT GGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGA AGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTA GTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGA GATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAG TGGTGATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTA GTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGAT GGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTG TGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTA GTGGTGGTGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGA GATGGTGGTAGTGGTGGAAGAGGTGATGGTGATAGTGGTGGGGGTAGTGG TGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTG ATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGATAAT		ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13						chr7	TogoVar
ICA1_chr7_8108184_8267167	8152704	C C	CCACCATC others(1112): Show CCACCATCACCATCACCTCCACCACCACCACCACCACCACCACCACCATC TCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCAT CACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCA CTATCACCATCACCATCACCTCCACCACCACCACCACCATCTCCTTCAAC ACCACTACCCCCAGCACCACCACCATCACCTCTTCCACCACTACCACCAT CTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCACCACCA CTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCACC ACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCAC CATCACCTCCACCACCACCACCATCTCCTTCACCACCACTACCCCCACCA CTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACC ACCACCACCACAATTATCTCCTTCATCACCACTACCCCCACCACTACCAC CATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCA TCACCACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACC ACCATCTCCTTCAACACCACTACCCCCACCACTACCACCATCACCTCTTC CACCACTACCACCATCTCCTCCACCACCACCACCACCACCACAATTATCT CCTTCATCACCACTACCCCCACCACTACCACCATCTCCTCCACCACCACT ACCACCACCACCACCATCTCCTTCACCACCACTACCCCCACCACTATCAC CATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCA CCACCACAATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATC TCCTCCACCACCACTACCACCACCACCACCATCTCCTTCACCACCACCAC CACCACCACAATTATCTCCTTCATCACCACTACCCCCACCACTACCACCA TCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATC ACCACTACCCCCACCACTAT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	274	0.0037	1119	c.804 others(1136): Show c.804+4411_804+4412insATAGTGGTGGGGGTAGTGGTGATGAAGG AGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTA GTGGTGGGGGTAGTGGTGATGAAGGAGATAATTGTGGTGGTGGTGGTGGT GGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGG TAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATTGTGGTGGTGGTGGTA GTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGATAGT GGTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGG TGGAGGAGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATT GTGGTGGTGGTGGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGT GATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGG TGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAG ATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGT GGTGGGGGTAGTGGTGATGAAGGAGATAATTGTGGTGGTGGTGGTGGTGG TGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGG GTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGT GATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGG TGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGTG AAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGT AGTGGTGGAAGAGGTGATGGTGGTGGTGCTGGGGGTAGTGGTGTTGAAGG AGATGGTGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGG GTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGA GGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGGAGGTGATGGTGATGGTG		ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13						chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33322916	T T	TATATGGA others(1112): Show TATATGGAATACATATATACGGAATATATATATAATATATATATGGAATA CATATATACGGAATATATATATAATATATATGGAATATATATATAATATA TATGGAATATATATATAATATATATATGGAATATATATATACGGAATATA TATATAATATATATATGGAATATATATATACGGAATATATATATAATATA TATATGGAATATATATATAATATATATATGGAATATATATACGGAATATA TATATAATATATATACGGAATATATATATAATATATATATGGAATATATA TATAATATATATATGGAATATATATATACGGAATATATATATAATATATA TACGGAATATATATATAATATATATATGGAATATATATATAATATATATA TGGAATATATATATACGGAATATATATATAATATATATATGGAATATATA TATACGGAATATATATATTATATATATGGAATATATATATATGGAATGTA TACATATGGAATATATATACGGAATGTATATATAATATATATATGGAATA TATATATACGGAATATATATATAATATATATATGGAATATATATATACGG AATGTATATATATGGAATATATATACGGAATGTATATATATGGAATACAT ACGGAATGTATATATATGGAATACATATATACGGAATGTATATATATGGA ATACATATATACGGAATGTATATATGGAATACATATATGGAATACGTATA TAAGGAATACATATATATGGAATACGTATATAAGGAATACATATATATGG AATACGTATATAAGGAATACATATATATGGAATACGTATATAAGGAATAC ATATATATGGAATACGTATATAAGGAATACATATATATGGAATACGTATA TAAGGAATACATATATATGGAATACGTATATAAGGAATACATATATATGG AATACGTATATAAGGAATACATATATATGGAATACGTATATAAGGAATAC ATATATATGGAATACGTATATAAGGAATACATATATATGGAATACGTATA TAAGGAATACATATATATGGAATACGTATATATGGAATACATATATATGG AATACGTATATATGGAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	323	0.0031	1119	c.-21 others(1130): Show c.-2140_-2139insATATGGAATACATATATACGGAATATATATATAA TATATATATGGAATACATATATACGGAATATATATATAATATATATGGAA TATATATATAATATATATGGAATATATATATAATATATATATGGAATATA TATATACGGAATATATATATAATATATATATGGAATATATATATACGGAA TATATATATAATATATATATGGAATATATATATAATATATATATGGAATA TATATACGGAATATATATATAATATATATACGGAATATATATATAATATA TATATGGAATATATATATAATATATATATGGAATATATATATACGGAATA TATATATAATATATATACGGAATATATATATAATATATATATGGAATATA TATATAATATATATATGGAATATATATATACGGAATATATATATAATATA TATATGGAATATATATATACGGAATATATATATTATATATATGGAATATA TATATATGGAATGTATACATATGGAATATATATACGGAATGTATATATAA TATATATATGGAATATATATATACGGAATATATATATAATATATATATGG AATATATATATACGGAATGTATATATATGGAATATATATACGGAATGTAT ATATATGGAATACATACGGAATGTATATATATGGAATACATATATACGGA ATGTATATATATGGAATACATATATACGGAATGTATATATGGAATACATA TATGGAATACGTATATAAGGAATACATATATATGGAATACGTATATAAGG AATACATATATATGGAATACGTATATAAGGAATACATATATATGGAATAC GTATATAAGGAATACATATATATGGAATACGTATATAAGGAATACATATA TATGGAATACGTATATAAGGAATACATATATATGGAATACGTATATAAGG AATACATATATATGGAATACGTATATAAGGAATACATATATATGGAATAC GTATATAAGGAATACATATATATGGAATACGTATATAAGGAATACATATA TATGGAATACGTATATAAGGAATACATATATATGGAATACGTATATATGG AATACATATATATGGAATACGTATATATGGAATAC		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2053		chr21	TogoVar
IL18R1_chr2_102350796_102403776	102352800	T T	TAATATAA others(1112): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATAAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATATAATATAATATATAA TATAATATATAATATAATAAATAATATATAATATATAATATAATATATAA TATATAATATATAATATAATATATAATGTAATATATAATATATAATATAA TATATAATATATAATATATAATATAATATATAATATATAATATATAATAT ATAATATATAATATATAATATAATATATAATATACAATACATAATATATA ATGTATAATATAATATATAATATAATATAAAATATATAATATATAATATA TAATATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTT CCCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGC TCTCAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGAC TCCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTT CACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCT CAGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTC AATGTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCA ATGCATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAAC ACCAAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTG TCTATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTC TTCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATC CATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCA TATATATTATATATGATATATATTTTATATATTATTTTATATGTGATATA TATTTTATATATCTATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG01167.hp1 others(25): Show HG00558.hp1 HG00609.hp1 HG01167.hp1 HG01891.hp1 HG02055.hp1 HG02615.hp1 HG03195.hp1 NA18522.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA18990.hp1 NA18999.hp2 NA19011.hp2 NA19058.hp2 NA19070.hp2 NA19083.hp2 NA19085.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0028 a0001c0001t0003 a0001c0001t0007 a0001c0001t0028	a0001c0001t0003g0005 a0001c0001t0003g0016 a0001c0001t0003g0038 others(15): Show a0001c0001t0003g0005 a0001c0001t0003g0016 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0158 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0007g0168 a0001c0001t0028g0005	28	366	0.0765	1119	c.-36 others(1130): Show c.-3629_-3628insAATATAATATGTATTTTATATATTATATTATATA AAATATAGTATATTATATATAATATAATAAATAATATAATATATAATATA TAATATAATAAATAATATAATATATAATATAATATATAATAAATAATATA ATATATAATATATAATATATAATATAATATATAATATAATATATAATATA TAATATAATATATAATATAATATATAATATAATAAATAATATATAATATA TAATATAATATATAATATATAATATATAATATAATATATAATGTAATATA TAATATATAATATAATATATAATATATAATATATAATATAATATATAATA TATAATATATAATATATAATATATAATATATAATATAATATATAATATAC AATACATAATATATAATGTATAATATAATATATAATATAATATAAAATAT ATAATATATAATATATAATATTATATATTTTATATATGCATTTCTTCTCT CAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGCAGGTAGA AGTAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAAATGTACTCA AGAACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCCACATC TGGCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCT AGTTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACACTCAA GCTTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGAATGGTTTTC TACTTCCCTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACCAAAATAA ATGAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAAAGTTCATGA CTGACTAAGGTACTGTCTATAGTCTCATGCAACTTATCTTGCATTTGCCC CATCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTGGGTGGCT GATCATCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTT GGCCAATGGGAGGCATATATATTATATATGATATATATTTTATATATTAT TTTATATGTGATATATATTTTATATATCTATACAA		IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding					2995		chr2	TogoVar
IL18R1_chr2_102350796_102403776	102352800	T T	TAATATAA others(1112): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATAAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATATAATATAATATATAA TATAATATATAATATAATAAATAATATATAATATATAATATAATATATAA TATATAATATATAATATAATATATAATGTAATATATAATATATAATATAA TATATAATATATAATATATAATATAATATATAATATATAATATATAATAT ATAATATATAATATATAATATAATATATAATATACAATACATAATATATA ATGTATAATATAATATATAATATAATATAAAATATATAATATATAATATA TAATATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTT CCCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGC TCTCAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGAC TCCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTT CACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCT CAGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTC AATGTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCA ATGCATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAAC ACCAAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTG TCTATAGTCTCATGCAACTTGTCTTGCATTTGCCCCATCAAAATCCTCTC TTCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATC CATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCA TATATATTATATATGATATATATTTTATATATTATTTTATATGTGATATA TATTTTATATATCTATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	366	0.0027	1119	c.-36 others(1130): Show c.-3629_-3628insAATATAATATGTATTTTATATATTATATTATATA AAATATAGTATATTATATATAATATAATAAATAATATAATATATAATATA TAATATAATAAATAATATAATATATAATATAATATATAATAAATAATATA ATATATAATATATAATATATAATATAATATATAATATAATATATAATATA TAATATAATATATAATATAATATATAATATAATAAATAATATATAATATA TAATATAATATATAATATATAATATATAATATAATATATAATGTAATATA TAATATATAATATAATATATAATATATAATATATAATATAATATATAATA TATAATATATAATATATAATATATAATATATAATATAATATATAATATAC AATACATAATATATAATGTATAATATAATATATAATATAATATAAAATAT ATAATATATAATATATAATATTATATATTTTATATATGCATTTCTTCTCT CAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGCAGGTAGA AGTAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAAATGTACTCA AGAACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCCACATC TGGCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCT AGTTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACACTCAA GCTTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGAATGGTTTTC TACTTCCCTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACCAAAATAA ATGAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAAAGTTCATGA CTGACTAAGGTACTGTCTATAGTCTCATGCAACTTGTCTTGCATTTGCCC CATCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTGGGTGGCT GATCATCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTT GGCCAATGGGAGGCATATATATTATATATGATATATATTTTATATATTAT TTTATATGTGATATATATTTTATATATCTATACAA		IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding					2995		chr2	TogoVar
IL18R1_chr2_102350796_102403776	102352800	T T	TAATATAA others(1112): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATAAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATATAATATAATATATAA TATAATATATAATATAATAAATAATATATAATATATAATATAATATATAA TATATGATATATAATATAATATATAATGTAATATATAATATATAATATAA TATATAATATATAATATATAATATAATATATAATATATAATATATAATAT ATAATATATAATATATAATATAATATATAATATACAATACATAATATATA ATGTATAATATAATATATAATATAATATAAAATATATAATATATAATATA TAATATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTT CCCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGC TCTCAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGAC TCCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTT CACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCT CAGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTC AATGTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCA ATGCATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAAC ACCAAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTG TCTATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTC TTCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATC CATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCA TATATATTATATATGATATATATTTTATATATTATTTTATATGTGATATA TATTTTATATATCTATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	366	0.0027	1119	c.-36 others(1130): Show c.-3629_-3628insAATATAATATGTATTTTATATATTATATTATATA AAATATAGTATATTATATATAATATAATAAATAATATAATATATAATATA TAATATAATAAATAATATAATATATAATATAATATATAATAAATAATATA ATATATAATATATAATATATAATATAATATATAATATAATATATAATATA TAATATAATATATAATATAATATATAATATAATAAATAATATATAATATA TAATATAATATATAATATATGATATATAATATAATATATAATGTAATATA TAATATATAATATAATATATAATATATAATATATAATATAATATATAATA TATAATATATAATATATAATATATAATATATAATATAATATATAATATAC AATACATAATATATAATGTATAATATAATATATAATATAATATAAAATAT ATAATATATAATATATAATATTATATATTTTATATATGCATTTCTTCTCT CAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGCAGGTAGA AGTAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAAATGTACTCA AGAACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCCACATC TGGCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCT AGTTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACACTCAA GCTTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGAATGGTTTTC TACTTCCCTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACCAAAATAA ATGAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAAAGTTCATGA CTGACTAAGGTACTGTCTATAGTCTCATGCAACTTATCTTGCATTTGCCC CATCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTGGGTGGCT GATCATCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTT GGCCAATGGGAGGCATATATATTATATATGATATATATTTTATATATTAT TTTATATGTGATATATATTTTATATATCTATACAA		IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding					2995		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352800	T T	TAATATAA others(1112): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATAAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATATAATATAATATATAA TATAATATATAATATAATAAATAATATATAATATATAATATAATATATAA TATATAATATATAATATAATATATAATGTAATATATAATATATAATATAA TATATAATATATAATATATAATATAATATATAATATATAATATATAATAT ATAATATATAATATATAATATAATATATAATATACAATACATAATATATA ATGTATAATATAATATATAATATAATATAAAATATATAATATATAATATA TAATATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTT CCCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGC TCTCAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGAC TCCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTT CACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCT CAGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTC AATGTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCA ATGCATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAAC ACCAAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTG TCTATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTC TTCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATC CATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCA TATATATTATATATGATATATATTTTATATATTATTTTATATGTGATATA TATTTTATATATCTATACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG01167.hp2 others(26): Show HG00558.hp1 HG00609.hp2 HG01167.hp2 HG01891.hp2 HG02055.hp1 HG02615.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 NA18522.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp2 NA18964.hp1 NA18966.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp2 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19058.hp2 NA19070.hp1 NA19085.hp2	a0002 a0013 a0014 a0002 a0013 a0014	a0002c0002 a0013c0012 a0014c0013 a0002c0002 a0013c0012 a0014c0013	a0002c0002t0002 a0002c0002t0003 a0013c0012t0002 others(1): Show a0002c0002t0002 a0002c0002t0003 a0013c0012t0002 a0014c0013t0002	a0002c0002t0002g0004 a0002c0002t0002g0013 a0002c0002t0002g0045 others(17): Show a0002c0002t0002g0004 a0002c0002t0002g0013 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0055 a0002c0002t0002g0187 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0205 a0002c0002t0002g0207 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0003g0049 a0013c0012t0002g0004 a0014c0013t0002g0004	29	348	0.0833	1119	c.87 others(1128): Show c.879_*880insAATATAATATGTATTTTATATATTATATTATATAAA ATATAGTATATTATATATAATATAATAAATAATATAATATATAATATATA ATATAATAAATAATATAATATATAATATAATATATAATAAATAATATAAT ATATAATATATAATATATAATATAATATATAATATAATATATAATATATA ATATAATATATAATATAATATATAATATAATAAATAATATATAATATATA ATATAATATATAATATATAATATATAATATAATATATAATGTAATATATA ATATATAATATAATATATAATATATAATATATAATATAATATATAATATA TAATATATAATATATAATATATAATATATAATATAATATATAATATACAA TACATAATATATAATGTATAATATAATATATAATATAATATAAAATATAT AATATATAATATATAATATTATATATTTTATATATGCATTTCTTCTCTCA AGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAG TAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAAATGTACTCAAG AACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTG GCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAG TTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGC TTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGAATGGTTTTCTA CTTCCCTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACCAAAATAAAT GAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAAAGTTCATGACT GACTAAGGTACTGTCTATAGTCTCATGCAACTTATCTTGCATTTGCCCCA TCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGA TCATCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGG CCAATGGGAGGCATATATATTATATATGATATATATTTTATATATTATTT TATATGTGATATATATTTTATATATCTATACAA		IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding					764		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352800	T T	TAATATAA others(1112): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATAAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATATAATATAATATATAA TATAATATATAATATAATAAATAATATATAATATATAATATAATATATAA TATATAATATATAATATAATATATAATGTAATATATAATATATAATATAA TATATAATATATAATATATAATATAATATATAATATATAATATATAATAT ATAATATATAATATATAATATAATATATAATATACAATACATAATATATA ATGTATAATATAATATATAATATAATATAAAATATATAATATATAATATA TAATATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTT CCCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGC TCTCAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGAC TCCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTT CACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCT CAGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTC AATGTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCA ATGCATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAAC ACCAAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTG TCTATAGTCTCATGCAACTTGTCTTGCATTTGCCCCATCAAAATCCTCTC TTCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATC CATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCA TATATATTATATATGATATATATTTTATATATTATTTTATATGTGATATA TATTTTATATATCTATACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02895.hp1 HG02717.hp2 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0209 a0002c0002t0002g0194 a0002c0002t0002g0209	2	348	0.0058	1119	c.87 others(1128): Show c.879_*880insAATATAATATGTATTTTATATATTATATTATATAAA ATATAGTATATTATATATAATATAATAAATAATATAATATATAATATATA ATATAATAAATAATATAATATATAATATAATATATAATAAATAATATAAT ATATAATATATAATATATAATATAATATATAATATAATATATAATATATA ATATAATATATAATATAATATATAATATAATAAATAATATATAATATATA ATATAATATATAATATATAATATATAATATAATATATAATGTAATATATA ATATATAATATAATATATAATATATAATATATAATATAATATATAATATA TAATATATAATATATAATATATAATATATAATATAATATATAATATACAA TACATAATATATAATGTATAATATAATATATAATATAATATAAAATATAT AATATATAATATATAATATTATATATTTTATATATGCATTTCTTCTCTCA AGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAG TAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAAATGTACTCAAG AACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTG GCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAG TTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGC TTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGAATGGTTTTCTA CTTCCCTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACCAAAATAAAT GAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAAAGTTCATGACT GACTAAGGTACTGTCTATAGTCTCATGCAACTTGTCTTGCATTTGCCCCA TCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGA TCATCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGG CCAATGGGAGGCATATATATTATATATGATATATATTTTATATATTATTT TATATGTGATATATATTTTATATATCTATACAA		IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding					764		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352800	T T	TAATATAA others(1112): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATAAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATATAATATAATATATAA TATAATATATAATATAATAAATAATATATAATATATAATATAATATATAA TATATGATATATAATATAATATATAATGTAATATATAATATATAATATAA TATATAATATATAATATATAATATAATATATAATATATAATATATAATAT ATAATATATAATATATAATATAATATATAATATACAATACATAATATATA ATGTATAATATAATATATAATATAATATAAAATATATAATATATAATATA TAATATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTT CCCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGC TCTCAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGAC TCCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTT CACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCT CAGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTC AATGTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCA ATGCATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAAC ACCAAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTG TCTATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTC TTCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATC CATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCA TATATATTATATATGATATATATTTTATATATTATTTTATATGTGATATA TATTTTATATATCTATACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	348	0.0029	1119	c.87 others(1128): Show c.879_*880insAATATAATATGTATTTTATATATTATATTATATAAA ATATAGTATATTATATATAATATAATAAATAATATAATATATAATATATA ATATAATAAATAATATAATATATAATATAATATATAATAAATAATATAAT ATATAATATATAATATATAATATAATATATAATATAATATATAATATATA ATATAATATATAATATAATATATAATATAATAAATAATATATAATATATA ATATAATATATAATATATGATATATAATATAATATATAATGTAATATATA ATATATAATATAATATATAATATATAATATATAATATAATATATAATATA TAATATATAATATATAATATATAATATATAATATAATATATAATATACAA TACATAATATATAATGTATAATATAATATATAATATAATATAAAATATAT AATATATAATATATAATATTATATATTTTATATATGCATTTCTTCTCTCA AGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAG TAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAAATGTACTCAAG AACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTG GCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAG TTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGC TTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGAATGGTTTTCTA CTTCCCTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACCAAAATAAAT GAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAAAGTTCATGACT GACTAAGGTACTGTCTATAGTCTCATGCAACTTATCTTGCATTTGCCCCA TCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGA TCATCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGG CCAATGGGAGGCATATATATTATATATGATATATATTTTATATATTATTT TATATGTGATATATATTTTATATATCTATACAA		IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding					764		chr2	TogoVar
KRTAP5-7_chr11_71522267_71533669	71522609	G G	GGCTGGTG others(1112): Show GGCTGGTGACACGTTGCCGTATTCTTGGGCGAGAACGCTGGTGACACGTT GCCGTATTCTTGGGCGAGTACGCTGGTGACACGTTGCCGTATTCTTGGGC GAGTACGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGAC ACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACATGTTGCCGTATTCT TGGGCCAGTACGCTGGTGACATGTTGCCGTATTCTTGGGCGAGTACGCTG GTGACATGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACATGTTGCTGT ATTCTTGGGCCAGTACGCTGGTGACATGTTGCTGTATTCTTGGGCGAGTA CGCTGGTGACATGTTGCTGTATTCTTGGGCGAGTACACTCGTGACATGTT GCTGTATTCTTGGGCGAGTACACTGGTGACATGTTGCTGTATTCTTGGGC GAGTACATGTTGCTGTATTCTTGGGCGAGTACACTAGTGACATGTTGCTG TATTCTTGAGCGAGTACACTCGTGACATGTTGCTGTATTCTTGGGCGAGT ACACTCGTGACATGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACATGT TGCTGTATTCTTGGGCGAGTACATGTTGCTGTATTCTTGGGCGAGTACAC TAGTGACATGTTGCTGTATTCTTGGGCGAGTACACTAGTGACATGTTGCT GTGTTCTTGGGCGAGTACACTCGTGACATGTTGCCATATTCTTGGGCGAG TACGCTGGTGACATGTTGCTGTATTCTTGGGCGAGTACATGTTGCTGTAT TCTTGGGCGAGTACACTAGTGACATGTTGCTGTATTCTTGGGCGAGTACA CTAGTGACATGTTGCTGTATTCTTGGGCGAGTACACTCGTGACATGTTGC TGTATTCTTGGGCGAGTACGCTGGTGACATGTTGCTATATTCTTGGGCGA GTACATGTTGCTGTATTCTTGGGCGAGTACACTAGTGACACGTTGCCGTA TTCTTGGGCGAGTACGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTAC GCTGGTGACACGTTGCCGTATTCTTGGGCCAGTAGGCTGGTGACACGTTG CCGTATTCTTGGGCGAGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp2 HG02572.hp2 others(1): Show HG02486.hp1 HG02486.hp2 HG02572.hp2 HG03486.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0000 a0005c0005t0004g0000	4	460	0.0087	1119	c.-46 others(1130): Show c.-4692_-4691insGCTGGTGACACGTTGCCGTATTCTTGGGCGAGAA CGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACACGTT GCCGTATTCTTGGGCGAGTACGCTGGTGACACGTTGCCGTATTCTTGGGC GAGTACGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGAC ATGTTGCCGTATTCTTGGGCCAGTACGCTGGTGACATGTTGCCGTATTCT TGGGCGAGTACGCTGGTGACATGTTGCCGTATTCTTGGGCGAGTACGCTG GTGACATGTTGCTGTATTCTTGGGCCAGTACGCTGGTGACATGTTGCTGT ATTCTTGGGCGAGTACGCTGGTGACATGTTGCTGTATTCTTGGGCGAGTA CACTCGTGACATGTTGCTGTATTCTTGGGCGAGTACACTGGTGACATGTT GCTGTATTCTTGGGCGAGTACATGTTGCTGTATTCTTGGGCGAGTACACT AGTGACATGTTGCTGTATTCTTGAGCGAGTACACTCGTGACATGTTGCTG TATTCTTGGGCGAGTACACTCGTGACATGTTGCCGTATTCTTGGGCGAGT ACGCTGGTGACATGTTGCTGTATTCTTGGGCGAGTACATGTTGCTGTATT CTTGGGCGAGTACACTAGTGACATGTTGCTGTATTCTTGGGCGAGTACAC TAGTGACATGTTGCTGTGTTCTTGGGCGAGTACACTCGTGACATGTTGCC ATATTCTTGGGCGAGTACGCTGGTGACATGTTGCTGTATTCTTGGGCGAG TACATGTTGCTGTATTCTTGGGCGAGTACACTAGTGACATGTTGCTGTAT TCTTGGGCGAGTACACTAGTGACATGTTGCTGTATTCTTGGGCGAGTACA CTCGTGACATGTTGCTGTATTCTTGGGCGAGTACGCTGGTGACATGTTGC TATATTCTTGGGCGAGTACATGTTGCTGTATTCTTGGGCGAGTACACTAG TGACACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACACGTTGCCGTA TTCTTGGGCGAGTACGCTGGTGACACGTTGCCGTATTCTTGGGCCAGTAG GCTGGTGACACGTTGCCGTATTCTTGGGCGAGTAC		KRTAP5-7	ENSG00000244411.4	transcript	ENST00000398536.6	protein_coding					4657		chr11	TogoVar
KRTAP5-7_chr11_71522267_71533669	71522609	G G	GGCTGGTG others(1112): Show GGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACACGTT GCCGTATTCTTGGGCGAGTACACTGGTGACACGTTGCCGTATTCTTGGGC GAGTACGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGAC ACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACATGTTGCCGTATTCT TGGGCCAGTACGCTGGTGACATGTTGCCGTATTCTTGGGCGAGTACGCTG GTGACATGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACATGTTGCTGT ATTCTTGGGCCAGTACGCTGGTGACATGTTGCTGTATTCTTGGGCGAGTA CGCTGGTGACATGTTGCTGTATTCTTGGGCGAGTACACTCGTGACATGTT GCTGTATTCTTGGGCGAGTACACTGGTGACATGTTGCTGTATTCTTGGGC GAGTACATGTTGCTGTATTCTTGGGCGAGTACACTAGTGACATGTTGCTG TATTCTTGAGCGAGTACACTCGTGACATGTTGCTGTATTCTTGGGCGAGT ACACTCGTGACATGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACATGT TGCTGTATTCTTGGGCGAGTACATGTTGCTGTATTCTTGGGCGAGTACAC TAGTGACATGTTGCTGTATTCTTGGGCGAGTACACTAGTGACATGTTGCT GTGTTCTTGGGCGAGTACACTCGTGACATGTTGCCATATTCTTGGGCGAG TACGCTGGTGACATGTTGCTGTATTCTTGGGCGAGTACATGTTGCTGTAT TCTTGGGCGAGTACACTAGTGACATGTTGCTGTATTCTTGGGCGAGTACA CTAGTGACATGTTGCTGTATTCTTGGGCGAGTACACTCGTGACATGTTGC TGTATTCTTGGGCGAGTACGCTGGTGACATGTTGCTATATTCTTGGGCGA GTACATGTTGCTGTATTCTTGGGCGAGTACACTAGTGACACGTTGCCGTA TTCTTGGGCGAGTACGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTAC GCTGGTGACACGTTGCCGTATTCTTGGGCCAGTAGGCTGGTGACACGTTG CCGTATTCTTGGGCGAGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02717.hp1 others(2): Show HG01891.hp2 HG02258.hp2 HG02717.hp1 HG03130.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	5	460	0.0109	1119	c.-46 others(1130): Show c.-4692_-4691insGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTA CGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTACACTGGTGACACGTT GCCGTATTCTTGGGCGAGTACGCTGGTGACACGTTGCCGTATTCTTGGGC GAGTACGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGAC ATGTTGCCGTATTCTTGGGCCAGTACGCTGGTGACATGTTGCCGTATTCT TGGGCGAGTACGCTGGTGACATGTTGCCGTATTCTTGGGCGAGTACGCTG GTGACATGTTGCTGTATTCTTGGGCCAGTACGCTGGTGACATGTTGCTGT ATTCTTGGGCGAGTACGCTGGTGACATGTTGCTGTATTCTTGGGCGAGTA CACTCGTGACATGTTGCTGTATTCTTGGGCGAGTACACTGGTGACATGTT GCTGTATTCTTGGGCGAGTACATGTTGCTGTATTCTTGGGCGAGTACACT AGTGACATGTTGCTGTATTCTTGAGCGAGTACACTCGTGACATGTTGCTG TATTCTTGGGCGAGTACACTCGTGACATGTTGCCGTATTCTTGGGCGAGT ACGCTGGTGACATGTTGCTGTATTCTTGGGCGAGTACATGTTGCTGTATT CTTGGGCGAGTACACTAGTGACATGTTGCTGTATTCTTGGGCGAGTACAC TAGTGACATGTTGCTGTGTTCTTGGGCGAGTACACTCGTGACATGTTGCC ATATTCTTGGGCGAGTACGCTGGTGACATGTTGCTGTATTCTTGGGCGAG TACATGTTGCTGTATTCTTGGGCGAGTACACTAGTGACATGTTGCTGTAT TCTTGGGCGAGTACACTAGTGACATGTTGCTGTATTCTTGGGCGAGTACA CTCGTGACATGTTGCTGTATTCTTGGGCGAGTACGCTGGTGACATGTTGC TATATTCTTGGGCGAGTACATGTTGCTGTATTCTTGGGCGAGTACACTAG TGACACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACACGTTGCCGTA TTCTTGGGCGAGTACGCTGGTGACACGTTGCCGTATTCTTGGGCCAGTAG GCTGGTGACACGTTGCCGTATTCTTGGGCGAGTAC		KRTAP5-7	ENSG00000244411.4	transcript	ENST00000398536.6	protein_coding					4657		chr11	TogoVar
KRTAP5-7_chr11_71522267_71533669	71522609	G G	GGCTGGTG others(1112): Show GGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACACGTT GCCGTATTCTTGGGCGAGTACGCTGGTGACACGTTGCCGTATTCTTGGGC GAGTACGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGAC ACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACATGTTGCCGTATTCT TGGGCCAGTACGCTGGTGACATGTTGCCGTATTCTTGGGCGAGTACGCTG GTGACATGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACATGTTGCTGT ATTCTTGGGCCAGTACGCTGGTGACATGTTGCTGTATTCTTGGGCGAGTA CGCTGGTGACATGTTGCTGTATTCTTGGGCGAGTACACTCGTGACATGTT GCTGTATTCTTGGGCGAGTACACTGGTGACATGTTGCTGTATTCTTGGGC GAGTACATGTTGCTGTATTCTTGGGCGAGTACACTAGTGACATGTTGCTG TATTCTTGAGCGAGTACACTCGTGACATGTTGCTGTATTCTTGGGCGAGT ACACTCGTGACATGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACATGT TGCTGTATTCTTGGGCGAGTACATGTTGCTGTATTCTTGGGCGAGTACAC TAGTGACATGTTGCTGTATTCTTGGGCGAGTACACTAGTGACATGTTGCT GTGTTCTTGGGCGAGTACACTCGTGACATGTTGCCATATTCTTGGGCGAG TACGCTGGTGACATGTTGCTGTATTCTTGGGCGAGTACATGTTGCTGTAT TCTTGGGCGAGTACACTAGTGACATGTTGCTGTATTCTTGGGCGAGTACA CTAGTGACATGTTGCTGTATTCTTGGGCGAGTACACTCGTGACATGTTGC TGTATTCTTGGGCGAGTACGCTGGTGACATGTTGCTATATTCTTGGGCGA GTACATGTTGCTGTATTCTTGGGCGAGTACACTAGTGACACGTTGCCGTA TTCTTGGGCGAGTACGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTAC GCTGGTGACACGTTGCCGTATTCTTGGGCCAGTAGGCTGGTGACACGTTG CCGTATTCTTGGGCGAGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01243.hp1 HG02145.hp1 others(2): Show HG01074.hp2 HG01243.hp1 HG02145.hp1 HG02965.hp2 NA21309.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0000 a0005c0005t0005g0000	5	460	0.0109	1119	c.-46 others(1130): Show c.-4692_-4691insGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTA CGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACACGTT GCCGTATTCTTGGGCGAGTACGCTGGTGACACGTTGCCGTATTCTTGGGC GAGTACGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGAC ATGTTGCCGTATTCTTGGGCCAGTACGCTGGTGACATGTTGCCGTATTCT TGGGCGAGTACGCTGGTGACATGTTGCCGTATTCTTGGGCGAGTACGCTG GTGACATGTTGCTGTATTCTTGGGCCAGTACGCTGGTGACATGTTGCTGT ATTCTTGGGCGAGTACGCTGGTGACATGTTGCTGTATTCTTGGGCGAGTA CACTCGTGACATGTTGCTGTATTCTTGGGCGAGTACACTGGTGACATGTT GCTGTATTCTTGGGCGAGTACATGTTGCTGTATTCTTGGGCGAGTACACT AGTGACATGTTGCTGTATTCTTGAGCGAGTACACTCGTGACATGTTGCTG TATTCTTGGGCGAGTACACTCGTGACATGTTGCCGTATTCTTGGGCGAGT ACGCTGGTGACATGTTGCTGTATTCTTGGGCGAGTACATGTTGCTGTATT CTTGGGCGAGTACACTAGTGACATGTTGCTGTATTCTTGGGCGAGTACAC TAGTGACATGTTGCTGTGTTCTTGGGCGAGTACACTCGTGACATGTTGCC ATATTCTTGGGCGAGTACGCTGGTGACATGTTGCTGTATTCTTGGGCGAG TACATGTTGCTGTATTCTTGGGCGAGTACACTAGTGACATGTTGCTGTAT TCTTGGGCGAGTACACTAGTGACATGTTGCTGTATTCTTGGGCGAGTACA CTCGTGACATGTTGCTGTATTCTTGGGCGAGTACGCTGGTGACATGTTGC TATATTCTTGGGCGAGTACATGTTGCTGTATTCTTGGGCGAGTACACTAG TGACACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACACGTTGCCGTA TTCTTGGGCGAGTACGCTGGTGACACGTTGCCGTATTCTTGGGCCAGTAG GCTGGTGACACGTTGCCGTATTCTTGGGCGAGTAC		KRTAP5-7	ENSG00000244411.4	transcript	ENST00000398536.6	protein_coding					4657		chr11	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088874	T T	TGGCCAGG others(1112): Show TGGCCAGGATCTGTGCAGGGAAGGCAGGATCTGTGCAGAGTGGCCAGGAT CCGTGCAGAGTGGCCAGGATCCGTGCAGGGAGGCCATGATCTGTGCAGGA GGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATC TGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGA GGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGGTC TGTGCAGAGTGGCCAGGGTCTTGGCAGGGTGGCCAGGATCTGTGCAGAGT GGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATC TGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGGCAGGATCTGTGCAGAGT GGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATC CGTGCAGAGTGGCCAGGATCCGTGCAGAGTGGCCAGGATCCGTGCAGGGA GGCCATGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATC TGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGA GGGCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATC TGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGGA GGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGGAGGCCAGGATC TGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAGGGA GGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATC TGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGT GGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATC TGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGAGT GGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATC TGTGCAGGGAGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGT GGCCAGGATCTGTGCAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	102	0.0098	1119	c.-46 others(1130): Show c.-4656_-4655insTCCCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCTCCCTGCACAGATCCTGGCCTCCCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGACC CTGCCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCTCCC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCACTCTGCACAGATCCTGCCCTCCCTGCACAGATC CTGGCCACTCTTCACAGATCCTGGCCACTCTGCACAGATCCTGGCCTCCT TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCTCCTTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGCCCTCCCTGCACAGATCCTGCCCTCCCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGACCCTGCCCTCCCTGCACAGATCATGGCCTCCCTGCACGGATC CTGGCCACTCTGCACGGATCCTGGCCACTCTGCACGGATCCTGCCCTCCC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATC CTGCCCACTCTGCACAGATCCTGCCCTCCCTGCACAGATCCTGGCCACTC TGCACAGATCCTGCCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCACCCTGCCAAGACCCTGGCCACTCTGCACAGACCCTGGCCACTC TGCACAGATCCTGGCCACTCTGCACAGATCCTGCCCTCCCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCACTCTGCACAGACCCTGCCCTCCTGCACAGATCA TGGCCTCCCTGCACGGATCCTGGCCACTCTGCACGGATCCTGGCCACTCT GCACAGATCCTGCCTTCCCTGCACAGATCCTGGCC		LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding					4477		chr20	TogoVar
LMF1_chr16_848634_975984	859743	G G	GAGTGGTG others(1112): Show GAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGT GGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGT GTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCA CGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGG ATGGGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTG TGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGC TGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGAGACGGGTGTGCAGTGATGTCTCGGGACGGGTGTGCACTGA TGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGCAGTGATGTCACGGGACGGGTGTGCAGTGGTGTCACGGG ACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTCTCGGGACGGGTGTG CAGTGGTGTCTCGGGATGGGTGTGACTGGTGTCTCGGGACGGTTGTGCAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGT GTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTG TGAGTGGTGTCTCGGGGTGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGC AGTGGTGTCTCGGGGTGGGTGTGCAGTGGTGTCTCGGGGTGGGTGTGCAG TGGTGTCTCGGGGTGGGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0097 a0001c0013t0001g0097	1	294	0.0034	1119	c.153 others(1138): Show c.1530-5038_1530-5037insACACCCACCCCGAGACACCACTGCAC ACCCACCCCGAGACACCACTGCACACCCACCCCGAGACACCACTGCACAC CCATCCCGAGACACCACTGCACACCCACCCCGAGACACCACTCACACCCA CCCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCGTCCC GAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACT CACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCAC AACCGTCCCGAGACACCAGTCACACCCATCCCGAGACACCACTGCACACC CGTCCCGAGACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCC CGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTG ACACCACTGCACACCCGTCCCGTGACATCACTGCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACATCAGTG CACACCCGTCCCGAGACATCACTGCACACCCGTCTCGAGACACCACTCAC ACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACAGCACAC CCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCG TCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GTGACACCACTCACACCCATCCCGTGACATCACTGCACACCCATCCCGTG ACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGACAC CACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACT GCACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCAC ACCCATCCCGTGACACCACTCACACCCATCCCGAGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTGA others(1112): Show ATATTTGATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTATT TTATATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATATAT ATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATATA AAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATAT ATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTT ATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATA TATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATT TTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTA TTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTA TATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCT TATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTT TATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAAT CTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATAT TTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	330	0.0030	1119	c.-5+ others(1134): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATA TATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATAT AAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATA TATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATAT ATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTA TATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAAT ATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGAT TTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATA AAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATA TAAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATAAGATTTTATATATATAAAATAAGATTT TATATATATAAAATATATATAAAGTAAGATTTTATATATATAAAATATAT ATAAAGTAAGATTTTATATATATATAAAATATATATAAAGTAAGATTTCA TATATATAAAATATAAAGTAAGATTTTATATATATATAAAATATATATAA AATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAA GATTTTATATATATATAAAATATATAAAAAATATATATCAAATATATATA AAATAAGATTTTATATATATATAAAATATATATCAAATA		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
MUC5AC_chr11_1152953_1206138	1182782	C C	CGGCAACA others(1112): Show CGGCAACATCAACATCATCCATGTCGACCACGACCCCGGGGACCTCTGTG GTCTCCAGCAAGCCCACCCTCACTGAGCCCAGCACATCCTCCTGCCTGCA GGAGCTTTGCACCTGGACCGAGTGGATCGATGGCAGCTACCCTGCTCCTG GAATAAATGGTGGAGATTTTGACACATTTCAAAATTTGAGAGACGAAGGA TACACATTCTGTGAAAGTCCTCGAAGCGTGCAGTGCCGGGCAGAGAGCTT CCCCAACACGCCGCTGGCAGACCTGGGGCAGGACGTCATCTGCAGCCACA CAGAGGGGCTGATTTGCCTGAACAAGAACCAGCTCCCACCCATCTGCTAC AACTATGAGATCCGCATCCAGTGTTGCGAGACGGTGAACGTGTGCAGAGA CATCACCAGACCGCCAAAGACCGTCGCAACGACACGGCCGACTCCACATC CAACCGGAGCTCAGACCCAGACCACCTTCACCACACACATGCCCTCGGCC TCCACAGAGCAACCCACGGCAACCTCCAGGGGTGGGCCCACAGCAACCAG CGTCACACAGGGCACCCACACCACACCAGTCACCAGAGACTGTCATCCCC GGTGCACCTGGACAAAGTGGTTCGACGTGGACTTCCCGTCCCCCGGACCC CATGGTGGAGACAAGGAAACCTACAACAACATCATCAGGAATGGGGAAAA AATCTGCCGCCGACCTGAGGAGATCACCAGGCTCCAGTGCCGAGCCAAGA GCCACCCAGAGGTGAGCATCGAACACCTGGGCCAGGTGGTGCAGTGCAGC CGGGAAGAGGGCCTGGTGTGCCAGAACCAGGACCAGCAGGGACCCTTCAA GATGTGCCTCAACTACGAGGTGCGTGTGCTCTGCTGCGAGACCCCCAGAG GCTGCCACATGACCTCCACACCTGGCTCCACCTCTAGCAGTCCAGCCCAG ACCACTCCTTCAACAACCTCCAAGACCACTGAAACCCGGGCCTCAGGCTC CTCAGCCCCCAGCAGCACACCTGGCACCGTGTCTCTCTCTACAGCCAGGA CGACACCTGCCCCAGGTACCGCTACCTCTGTCAAAAAAACTTTCTCAACT CCCAGCCCTCCGCCAGTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00733.hp2 HG00733.hp2	a0030 a0030	a0030c0036 a0030c0036	a0030c0036t0002 a0030c0036t0002	a0030c0036t0002g0047 a0030c0036t0002g0047	1	292	0.0034	1119	c.466 others(1128): Show c.4668_4669insACCCCGGGGACCTCTGTGGTCTCCAGCAAGCCCACC CTCACTGAGCCCAGCACATCCTCCTGCCTGCAGGAGCTTTGCACCTGGAC CGAGTGGATCGATGGCAGCTACCCTGCTCCTGGAATAAATGGTGGAGATT TTGACACATTTCAAAATTTGAGAGACGAAGGATACACATTCTGTGAAAGT CCTCGAAGCGTGCAGTGCCGGGCAGAGAGCTTCCCCAACACGCCGCTGGC AGACCTGGGGCAGGACGTCATCTGCAGCCACACAGAGGGGCTGATTTGCC TGAACAAGAACCAGCTCCCACCCATCTGCTACAACTATGAGATCCGCATC CAGTGTTGCGAGACGGTGAACGTGTGCAGAGACATCACCAGACCGCCAAA GACCGTCGCAACGACACGGCCGACTCCACATCCAACCGGAGCTCAGACCC AGACCACCTTCACCACACACATGCCCTCGGCCTCCACAGAGCAACCCACG GCAACCTCCAGGGGTGGGCCCACAGCAACCAGCGTCACACAGGGCACCCA CACCACACCAGTCACCAGAGACTGTCATCCCCGGTGCACCTGGACAAAGT GGTTCGACGTGGACTTCCCGTCCCCCGGACCCCATGGTGGAGACAAGGAA ACCTACAACAACATCATCAGGAATGGGGAAAAAATCTGCCGCCGACCTGA GGAGATCACCAGGCTCCAGTGCCGAGCCAAGAGCCACCCAGAGGTGAGCA TCGAACACCTGGGCCAGGTGGTGCAGTGCAGCCGGGAAGAGGGCCTGGTG TGCCAGAACCAGGACCAGCAGGGACCCTTCAAGATGTGCCTCAACTACGA GGTGCGTGTGCTCTGCTGCGAGACCCCCAGAGGCTGCCACATGACCTCCA CACCTGGCTCCACCTCTAGCAGTCCAGCCCAGACCACTCCTTCAACAACC TCCAAGACCACTGAAACCCGGGCCTCAGGCTCCTCAGCCCCCAGCAGCAC ACCTGGCACCGTGTCTCTCTCTACAGCCAGGACGACACCTGCCCCAGGTA CCGCTACCTCTGTCAAAAAAACTTTCTCAACTCCCAGCCCTCCGCCAGTG CTGGCAACATCAACATCATCCATGTCGACCACG	p.Thr others(1134): Show p.Thr1556_Ala1557insThrProGlyThrSerValValSerSerLys ProThrLeuThrGluProSerThrSerSerCysLeuGlnGluLeuCysTh rTrpThrGluTrpIleAspGlySerTyrProAlaProGlyIleAsnGlyG lyAspPheAspThrPheGlnAsnLeuArgAspGluGlyTyrThrPheCys GluSerProArgSerValGlnCysArgAlaGluSerPheProAsnThrPr oLeuAlaAspLeuGlyGlnAspValIleCysSerHisThrGluGlyLeuI leCysLeuAsnLysAsnGlnLeuProProIleCysTyrAsnTyrGluIle ArgIleGlnCysCysGluThrValAsnValCysArgAspIleThrArgPr oProLysThrValAlaThrThrArgProThrProHisProThrGlyAlaG lnThrGlnThrThrPheThrThrHisMetProSerAlaSerThrGluGln ProThrAlaThrSerArgGlyGlyProThrAlaThrSerValThrGlnGl yThrHisThrThrProValThrArgAspCysHisProArgCysThrTrpT hrLysTrpPheAspValAspPheProSerProGlyProHisGlyGlyAsp LysGluThrTyrAsnAsnIleIleArgAsnGlyGluLysIleCysArgAr gProGluGluIleThrArgLeuGlnCysArgAlaLysSerHisProGluV alSerIleGluHisLeuGlyGlnValValGlnCysSerArgGluGluGly LeuValCysGlnAsnGlnAspGlnGlnGlyProPheLysMetCysLeuAs nTyrGluValArgValLeuCysCysGluThrProArgGlyCysHisMetT hrSerThrProGlySerThrSerSerSerProAlaGlnThrThrProSer ThrThrSerLysThrThrGluThrArgAlaSerGlySerSerAlaProSe rSerThrProGlyThrValSerLeuSerThrAlaArgThrThrProAlaP roGlyThrAlaThrSerValLysLysThrPheSerThrProSerProPro ProValLeuAlaThrSerThrSerSerMetSerThrThr	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	31/49	4716/17448	4669/16965	1557/5654		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1182782	C C	CGGCAACA others(1112): Show CGGCAACATCAACATCATCCATGTCGACCACGGCCCCGGGGACCTCTGTG GTCTCCAGCAAGCCCACCCTCACTGAGCCCAGCACATCCTCCTGCCTGCA GGAGCTTTGCACCTGGACCGAGTGGATCGATGGCAGCTACCCTGCTCCTG GAATAAATGGTGGAGATTTTGACACATTTCAAAATTTGAGAGACGAAGGA TACACATTCTGTGAAAGTCCTCGAAGCGTGCAGTGCCGGGCAGAGAGCTT CCCCAACACGCCGCTGGCAGACCTGGGGCAGGACGTCATCTGCAGCCACA CAGAGGGGCTGATTTGCCTGAACAAGAACCAGCTCCCACCCATCTGCTAC AACTATGAGATCCGCATCCAGTGTTGCGAGACGGTGAACGTGTGCAGAGA CATCACCAGACCGCCAAAGACCGTCGCAACGACACGGCCGACTCCACATC CAACCGGAGCTCAGACCCAGACCACCTTCACCACACACATGCCCTCGGCC TCCACAGAGCAACCCACGGCAACCTCCAGGGGTGGGCCCACAGCAACCAG CGTCACACAGGGCACCCACACCACACCAGTCACCAGAGACTGTCATCCCC GGTGCACCTGGACAAAGTGGTTCGACGTGGACTTCCCGTCCCCCGGACCC CATGGTGGAGACAAGGAAACCTACAACAACATCATCAGGAATGGGGAAAA AATCTGCCGCCGACCTGAGGAGATCACCAGGCTCCAGTGCCGAGCCAAGA GCCACCCAGAGGTGAGCATCGAACACCTGGGCCAGGTGGTGCAGTGCAGC CGGGAAGAGGGCCTGGTGTGCCAGAACCAGGACCAGCAGGGACCCTTCAA GATGTGCCTCAACTACGAGGTGCGTGTGCTCTGCTGCGAGACCCCCAGAG GCTGCCACATGACCTCCACACCTGGCTCCACCTCTAGCAGTCCAGCCCAG ACCACTCCTTCAACAACCTCCAAGACCACTGAAACCCGGGCCTCAGGCTC CTCAGCCCCCAGCAGCACACCTGGCACCGTGTCTCTCTCTACAGCCAGGA CGACACCTGCCCCAGGTACCGCTACCTCTGTCAAAAAAACTTTCTCAACT CCCAGCCCTCCGCCAGTGCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02809.hp2 HG02809.hp2	a0050 a0050	a0050c0094 a0050c0094	a0050c0094t0002 a0050c0094t0002	a0050c0094t0002g0085 a0050c0094t0002g0085	1	292	0.0034	1119	c.470 others(1128): Show c.4705_4706insTCACTGAGCCCAGCACATCCTCCTGCCTGCAGGAGC TTTGCACCTGGACCGAGTGGATCGATGGCAGCTACCCTGCTCCTGGAATA AATGGTGGAGATTTTGACACATTTCAAAATTTGAGAGACGAAGGATACAC ATTCTGTGAAAGTCCTCGAAGCGTGCAGTGCCGGGCAGAGAGCTTCCCCA ACACGCCGCTGGCAGACCTGGGGCAGGACGTCATCTGCAGCCACACAGAG GGGCTGATTTGCCTGAACAAGAACCAGCTCCCACCCATCTGCTACAACTA TGAGATCCGCATCCAGTGTTGCGAGACGGTGAACGTGTGCAGAGACATCA CCAGACCGCCAAAGACCGTCGCAACGACACGGCCGACTCCACATCCAACC GGAGCTCAGACCCAGACCACCTTCACCACACACATGCCCTCGGCCTCCAC AGAGCAACCCACGGCAACCTCCAGGGGTGGGCCCACAGCAACCAGCGTCA CACAGGGCACCCACACCACACCAGTCACCAGAGACTGTCATCCCCGGTGC ACCTGGACAAAGTGGTTCGACGTGGACTTCCCGTCCCCCGGACCCCATGG TGGAGACAAGGAAACCTACAACAACATCATCAGGAATGGGGAAAAAATCT GCCGCCGACCTGAGGAGATCACCAGGCTCCAGTGCCGAGCCAAGAGCCAC CCAGAGGTGAGCATCGAACACCTGGGCCAGGTGGTGCAGTGCAGCCGGGA AGAGGGCCTGGTGTGCCAGAACCAGGACCAGCAGGGACCCTTCAAGATGT GCCTCAACTACGAGGTGCGTGTGCTCTGCTGCGAGACCCCCAGAGGCTGC CACATGACCTCCACACCTGGCTCCACCTCTAGCAGTCCAGCCCAGACCAC TCCTTCAACAACCTCCAAGACCACTGAAACCCGGGCCTCAGGCTCCTCAG CCCCCAGCAGCACACCTGGCACCGTGTCTCTCTCTACAGCCAGGACGACA CCTGCCCCAGGTACCGCTACCTCTGTCAAAAAAACTTTCTCAACTCCCAG CCCTCCGCCAGTGCTGGCAACATCAACATCATCCATGTCGACCACGGCCC CGGGGACCTCTGTGGTCTCCAGCAAGCCCACCC	p.Thr others(1134): Show p.Thr1568_Pro1569insLeuThrGluProSerThrSerSerCysLeu GlnGluLeuCysThrTrpThrGluTrpIleAspGlySerTyrProAlaPr oGlyIleAsnGlyGlyAspPheAspThrPheGlnAsnLeuArgAspGluG lyTyrThrPheCysGluSerProArgSerValGlnCysArgAlaGluSer PheProAsnThrProLeuAlaAspLeuGlyGlnAspValIleCysSerHi sThrGluGlyLeuIleCysLeuAsnLysAsnGlnLeuProProIleCysT yrAsnTyrGluIleArgIleGlnCysCysGluThrValAsnValCysArg AspIleThrArgProProLysThrValAlaThrThrArgProThrProHi sProThrGlyAlaGlnThrGlnThrThrPheThrThrHisMetProSerA laSerThrGluGlnProThrAlaThrSerArgGlyGlyProThrAlaThr SerValThrGlnGlyThrHisThrThrProValThrArgAspCysHisPr oArgCysThrTrpThrLysTrpPheAspValAspPheProSerProGlyP roHisGlyGlyAspLysGluThrTyrAsnAsnIleIleArgAsnGlyGlu LysIleCysArgArgProGluGluIleThrArgLeuGlnCysArgAlaLy sSerHisProGluValSerIleGluHisLeuGlyGlnValValGlnCysS erArgGluGluGlyLeuValCysGlnAsnGlnAspGlnGlnGlyProPhe LysMetCysLeuAsnTyrGluValArgValLeuCysCysGluThrProAr gGlyCysHisMetThrSerThrProGlySerThrSerSerSerProAlaG lnThrThrProSerThrThrSerLysThrThrGluThrArgAlaSerGly SerSerAlaProSerSerThrProGlyThrValSerLeuSerThrAlaAr gThrThrProAlaProGlyThrAlaThrSerValLysLysThrPheSerT hrProSerProProProValLeuAlaThrSerThrSerSerMetSerThr ThrAlaProGlyThrSerValValSerSerLysProThr	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	31/49	4753/17448	4706/16965	1569/5654		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1182807	G G	GACCACGG others(1112): Show GACCACGGCCCCGGGGACCTCTGTGGTCTCCAGCAAGCCCACCCTCACTG AGCCCAGCACATCCTCCTGCCTGCAGGAGCTTTGCACCTGGACCGAGTGG ATCGATGGCAGCTACCCTGCTCCTGGAATAAATGGTGGAGATTTTGACAC ATTTCAAAATTTGAGAGACGAAGGATACACATTCTGTGAAAGTCCTCGAA GCGTGCAGTGCCGGGCAGAGAGCTTCCCCAACACGCCGCTGGCAGACCTG GGGCAGGACGTCATCTGCAGCCACACAGAGGGGCTGATTTGCCTGAACAA GAACCAGCTCCCACCCATCTGCTACAACTATGAGATCCGCATCCAGTGTT GCGAGACGGTGAACGTGTGCAGAGACATCACCAGACCGCCAAAGACCGTC GCAACGACACGGCCGACTCCACATCCAACCGGAGCTCAGACCCAGACCAC CTTCACCACACACATGCCCTCGGCCTCCACAGAGCAACCCACGGCAACCT CCAGGGGTGGGCCCACAGCAACCAGCGTCACACAGGGCACCCACACCACA CCAGTCACCAGAGACTGTCATCCCCGGTGCACCTGGACAAAGTGGTTCGA CGTGGACTTCCCGTCCCCCGGACCCCATGGTGGAGACAAGGAAACCTACA ACAACATCATCAGGAATGGGGAAAAAATCTGCCGCCGACCTGAGGAGATC ACCAGGCTCCAGTGCCGAGCCAAGAGCCACCCAGAGGTGAGCATCGAACA CCTGGGCCAGGTGGTGCAGTGCAGCCGGGAAGAGGGCCTGGTGTGCCAGA ACCAGGACCAGCAGGGACCCTTCAAGATGTGCCTCAACTACGAGGTGCGT GTGCTCTGCTGCGAGACCCCCAGAGGCTGCCACATGACCTCCACACCTGG CTCCACCTCTAGCAGTCCAGCCCAGACCACTCCTTCAACAACCTCCAAGA CCACTGAAACCCGGGCCTCAGGCTCCTCAGCCCCCAGCAGCACACCTGGC ACCGTGTCTCTCTCTACAGCCAGGACGACACCTGCCCCAGGTACCGCTAC CTCTGTCAAAAAAACTTTCTCAACTCCCAGCCCTCCGCCAGTGCTGGCAA CATCAACATCATCCATGTCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG01433.hp1 NA20805.hp1 HG00099.hp2 HG01433.hp1 NA20805.hp1	a0008 a0012 a0008 a0012	a0008c0084 a0012c0028 a0008c0084 a0012c0028	a0008c0084t0002 a0012c0028t0002 a0008c0084t0002 a0012c0028t0002	a0008c0084t0002g0044 a0012c0028t0002g0017 a0012c0028t0002g0046 a0008c0084t0002g0044 a0012c0028t0002g0017 a0012c0028t0002g0046	3	292	0.0103	1119	c.470 others(1128): Show c.4705_4706insTCACTGAGCCCAGCACATCCTCCTGCCTGCAGGAGC TTTGCACCTGGACCGAGTGGATCGATGGCAGCTACCCTGCTCCTGGAATA AATGGTGGAGATTTTGACACATTTCAAAATTTGAGAGACGAAGGATACAC ATTCTGTGAAAGTCCTCGAAGCGTGCAGTGCCGGGCAGAGAGCTTCCCCA ACACGCCGCTGGCAGACCTGGGGCAGGACGTCATCTGCAGCCACACAGAG GGGCTGATTTGCCTGAACAAGAACCAGCTCCCACCCATCTGCTACAACTA TGAGATCCGCATCCAGTGTTGCGAGACGGTGAACGTGTGCAGAGACATCA CCAGACCGCCAAAGACCGTCGCAACGACACGGCCGACTCCACATCCAACC GGAGCTCAGACCCAGACCACCTTCACCACACACATGCCCTCGGCCTCCAC AGAGCAACCCACGGCAACCTCCAGGGGTGGGCCCACAGCAACCAGCGTCA CACAGGGCACCCACACCACACCAGTCACCAGAGACTGTCATCCCCGGTGC ACCTGGACAAAGTGGTTCGACGTGGACTTCCCGTCCCCCGGACCCCATGG TGGAGACAAGGAAACCTACAACAACATCATCAGGAATGGGGAAAAAATCT GCCGCCGACCTGAGGAGATCACCAGGCTCCAGTGCCGAGCCAAGAGCCAC CCAGAGGTGAGCATCGAACACCTGGGCCAGGTGGTGCAGTGCAGCCGGGA AGAGGGCCTGGTGTGCCAGAACCAGGACCAGCAGGGACCCTTCAAGATGT GCCTCAACTACGAGGTGCGTGTGCTCTGCTGCGAGACCCCCAGAGGCTGC CACATGACCTCCACACCTGGCTCCACCTCTAGCAGTCCAGCCCAGACCAC TCCTTCAACAACCTCCAAGACCACTGAAACCCGGGCCTCAGGCTCCTCAG CCCCCAGCAGCACACCTGGCACCGTGTCTCTCTCTACAGCCAGGACGACA CCTGCCCCAGGTACCGCTACCTCTGTCAAAAAAACTTTCTCAACTCCCAG CCCTCCGCCAGTGCTGGCAACATCAACATCATCCATGTCAACCACGGCCC CGGGGACCTCTGTGGTCTCCAGCAAGCCCACCC	p.Thr others(1134): Show p.Thr1568_Pro1569insLeuThrGluProSerThrSerSerCysLeu GlnGluLeuCysThrTrpThrGluTrpIleAspGlySerTyrProAlaPr oGlyIleAsnGlyGlyAspPheAspThrPheGlnAsnLeuArgAspGluG lyTyrThrPheCysGluSerProArgSerValGlnCysArgAlaGluSer PheProAsnThrProLeuAlaAspLeuGlyGlnAspValIleCysSerHi sThrGluGlyLeuIleCysLeuAsnLysAsnGlnLeuProProIleCysT yrAsnTyrGluIleArgIleGlnCysCysGluThrValAsnValCysArg AspIleThrArgProProLysThrValAlaThrThrArgProThrProHi sProThrGlyAlaGlnThrGlnThrThrPheThrThrHisMetProSerA laSerThrGluGlnProThrAlaThrSerArgGlyGlyProThrAlaThr SerValThrGlnGlyThrHisThrThrProValThrArgAspCysHisPr oArgCysThrTrpThrLysTrpPheAspValAspPheProSerProGlyP roHisGlyGlyAspLysGluThrTyrAsnAsnIleIleArgAsnGlyGlu LysIleCysArgArgProGluGluIleThrArgLeuGlnCysArgAlaLy sSerHisProGluValSerIleGluHisLeuGlyGlnValValGlnCysS erArgGluGluGlyLeuValCysGlnAsnGlnAspGlnGlnGlyProPhe LysMetCysLeuAsnTyrGluValArgValLeuCysCysGluThrProAr gGlyCysHisMetThrSerThrProGlySerThrSerSerSerProAlaG lnThrThrProSerThrThrSerLysThrThrGluThrArgAlaSerGly SerSerAlaProSerSerThrProGlyThrValSerLeuSerThrAlaAr gThrThrProAlaProGlyThrAlaThrSerValLysLysThrPheSerT hrProSerProProProValLeuAlaThrSerThrSerSerMetSerThr ThrAlaProGlyThrSerValValSerSerLysProThr	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	31/49	4753/17448	4706/16965	1569/5654		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1184723	G G	GGAACCAG others(1112): Show GGAACCAGGACCAGCAGGGACCCTTCAAGATGTGCCTCAACTACGAGGTG CGTGTGCTCTGCTGCGAGACCCCCAGAGGCTGCCACATGACCTCCACACC TGGCTCCACCTCTAGCAGTCCAGCCCAGACCACTCCTTCAACAACCTCCA AGACCACTGAAACCCGGGCCTCAGGCTCCTCAGCCCCCAGCAGCACACCT GGCACCGTGTCTCTCTCTACAGCCAGGACGACAACTGCCCCAGGTACCGC TACCTCTGTCAAAAAAACTTTCTCAACTCCCAGCCCTCCGCCAGTGCTGG CAACATCAACATCATCCATGTCAACCACGGCCCCGGGGACCTCTGTGGTC TCCAGCAAGCCCACCCCCACGGAGCCCAGCACATCCTCCTGCCTGCAGGA GCTTTGCACCTGGACCGAGTGGATTGATGGCAGCTACCCTGCTCCTGGAA TAAATGGTGGAGATTTTGACACATTTCAAAATTTGAGAGACGAAGGATAC ACATTCTGTGAAAGTCCTCGAAGCGTGCAGTGCCGGGCAGAGAGCTTCCC CAACACGCCGCTGGCAGACCTGGGGCAGGACGTCATCTGCAGCCACACAG AGGGGCTGATTTGCCTGAACAAGAACCAGCTCCCACCCATCTGCTACAAC TATGAGATCCGCATCCAGTGTTGCGAGACGGTGAACGTGTGCAGAGACAT CACCAGACCGCCAAAGACCGTCGCAACGACACGGCCGACTCCACATCCAA CCGGAGCTCAGACCCAGACCACCTTCACCACACACATGCCCTCGGCCTCC ACAGAGCAACCCACGGCAACCTCCAGGGGTGGGCCCACAGCAACCAGCGT CACACAGGGCACCCACACCACACCAGTCACCAGAGACTGTCATCCCCGGT GCACCTGGACAAAGTGGTTCGACGTGGACTTCCCGTCCCCTGGACCCCAT GGTGGAGACAAGGAAACCTACAACAACATCATCAGGAGTGGGGAAAAAAT CTGCCACCGACCTGAGGAGATCACCAGGCTCCAGTGCCGAGCCAAGAGCC ACCCAGAGGTGAGCATCGAACACCTGGGCCAGGTGGTGCAGTGCAGCCGG GAAGAGGGCCTGGTGTGCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02818.hp1 HG02922.hp2 HG03139.hp2 others(1): Show HG02818.hp1 HG02922.hp2 HG03139.hp2 HG03195.hp2	a0008 a0052 a0008 a0052	a0008c0017 a0052c0073 a0008c0017 a0052c0073	a0008c0017t0002 a0052c0073t0002 a0008c0017t0002 a0052c0073t0002	a0008c0017t0002g0007 a0052c0073t0002g0146 a0008c0017t0002g0007 a0052c0073t0002g0146	4	292	0.0137	1119	c.665 others(1128): Show c.6652_6653insGAGGCTGCCACATGACCTCCACACCTGGCTCCACCT CTAGCAGTCCAGCCCAGACCACTCCTTCAACAACCTCCAAGACCACTGAA ACCCGGGCCTCAGGCTCCTCAGCCCCCAGCAGCACACCTGGCACCGTGTC TCTCTCTACAGCCAGGACGACAACTGCCCCAGGTACCGCTACCTCTGTCA AAAAAACTTTCTCAACTCCCAGCCCTCCGCCAGTGCTGGCAACATCAACA TCATCCATGTCAACCACGGCCCCGGGGACCTCTGTGGTCTCCAGCAAGCC CACCCCCACGGAGCCCAGCACATCCTCCTGCCTGCAGGAGCTTTGCACCT GGACCGAGTGGATTGATGGCAGCTACCCTGCTCCTGGAATAAATGGTGGA GATTTTGACACATTTCAAAATTTGAGAGACGAAGGATACACATTCTGTGA AAGTCCTCGAAGCGTGCAGTGCCGGGCAGAGAGCTTCCCCAACACGCCGC TGGCAGACCTGGGGCAGGACGTCATCTGCAGCCACACAGAGGGGCTGATT TGCCTGAACAAGAACCAGCTCCCACCCATCTGCTACAACTATGAGATCCG CATCCAGTGTTGCGAGACGGTGAACGTGTGCAGAGACATCACCAGACCGC CAAAGACCGTCGCAACGACACGGCCGACTCCACATCCAACCGGAGCTCAG ACCCAGACCACCTTCACCACACACATGCCCTCGGCCTCCACAGAGCAACC CACGGCAACCTCCAGGGGTGGGCCCACAGCAACCAGCGTCACACAGGGCA CCCACACCACACCAGTCACCAGAGACTGTCATCCCCGGTGCACCTGGACA AAGTGGTTCGACGTGGACTTCCCGTCCCCTGGACCCCATGGTGGAGACAA GGAAACCTACAACAACATCATCAGGAGTGGGGAAAAAATCTGCCACCGAC CTGAGGAGATCACCAGGCTCCAGTGCCGAGCCAAGAGCCACCCAGAGGTG AGCATCGAACACCTGGGCCAGGTGGTGCAGTGCAGCCGGGAAGAGGGCCT GGTGTGCCAGAACCAGGACCAGCAGGGACCCTTCAAGATGTGCCTCAACT ACGAGGTGCGTGTGCTCTGCTGCGAGACCCCCA	p.Pro others(1134): Show p.Pro2217_Lys2218insArgGlyCysHisMetThrSerThrProGly SerThrSerSerSerProAlaGlnThrThrProSerThrThrSerLysTh rThrGluThrArgAlaSerGlySerSerAlaProSerSerThrProGlyT hrValSerLeuSerThrAlaArgThrThrThrAlaProGlyThrAlaThr SerValLysLysThrPheSerThrProSerProProProValLeuAlaTh rSerThrSerSerMetSerThrThrAlaProGlyThrSerValValSerS erLysProThrProThrGluProSerThrSerSerCysLeuGlnGluLeu CysThrTrpThrGluTrpIleAspGlySerTyrProAlaProGlyIleAs nGlyGlyAspPheAspThrPheGlnAsnLeuArgAspGluGlyTyrThrP heCysGluSerProArgSerValGlnCysArgAlaGluSerPheProAsn ThrProLeuAlaAspLeuGlyGlnAspValIleCysSerHisThrGluGl yLeuIleCysLeuAsnLysAsnGlnLeuProProIleCysTyrAsnTyrG luIleArgIleGlnCysCysGluThrValAsnValCysArgAspIleThr ArgProProLysThrValAlaThrThrArgProThrProHisProThrGl yAlaGlnThrGlnThrThrPheThrThrHisMetProSerAlaSerThrG luGlnProThrAlaThrSerArgGlyGlyProThrAlaThrSerValThr GlnGlyThrHisThrThrProValThrArgAspCysHisProArgCysTh rTrpThrLysTrpPheAspValAspPheProSerProGlyProHisGlyG lyAspLysGluThrTyrAsnAsnIleIleArgSerGlyGluLysIleCys HisArgProGluGluIleThrArgLeuGlnCysArgAlaLysSerHisPr oGluValSerIleGluHisLeuGlyGlnValValGlnCysSerArgGluG luGlyLeuValCysGlnAsnGlnAspGlnGlnGlyProPheLysMetCys LeuAsnTyrGluValArgValLeuCysCysGluThrPro	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	31/49	6700/17448	6653/16965	2218/5654		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(1112): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTC TCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTC TTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCC CTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTC TCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTC TCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	312	0.0032	1119	c.306 others(1138): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCC CTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTT CTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTC TCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCCCTTCCTCCCCTTCTCTCCTCCCC		PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCATCCAC others(1112): Show CCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCC CTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTTCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTC ACCCATCCACCCACCCACCCATCCACCTTTCCCTCCATCTACTCACCCAT CCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCC ACCCACCCATCCACCTTCCCCTCCATCTATTCACCCATCCACCCACCCAC CCATCCACCTTTCCCTCCATCTACTCACCCATCCACCCACCCACCCATCC ACCTTTCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTC CCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCC ATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTAC TCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCC ATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCAC CCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCC ACCCATCCACCTTCCCCTCCATTTATTCAACCTCCCACCCACCAACCCAT CCACCTTCCCCTCTATCTATTCAACTATTCAACCACCCACCCACCCACCC ACCATCCATCCACCTTCCGCTCCACCTATTCACCCATCCACCCACCCACC CATCTACCTTTCTCTCCACCTATTCACCCATCCACCCACCCACCCATCTA CCTTCCTCTCCATCTATTCAACTATCCACCCACCCACCCACCTATCCACT TTCCCCTCCATCTATTCAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG04184.hp1 HG02135.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0117 a0001c0001t0006g0039 a0001c0001t0002g0117 a0001c0001t0006g0039	2	370	0.0054	1119	c.438 others(1136): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATA GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTG GGTGGATGGGTGAATAGGTGGAGCGGAAGGTGGATGGATGGTGGGTGGGT GGGTGGGTGGTTGAATAGTTGAATAGATAGAGGGGAAGGTGGATGGGTTG GTGGGTGGGAGGTTGAATAAATGGAGGGGAAGGTGGATGGGTGGGTGGGT GGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGG GTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGT AGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGG AGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGA AGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGG ATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGAAAGGTGGATGGGT GGGTGGGTGGATGGGTGAGTAGATGGAGGGAAAGGTGGATGGGTGGGTGG GTGGATGGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGAT GGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGA GTAGATGGAGGGAAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGAT GGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGG AAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGT GGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGG GTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGT GGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGG ATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGT GAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATG		RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13						chr5	TogoVar
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCATCCAC others(1112): Show CCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTTCC CTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTTCCCTCCATCTACTC ACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCAT CCACCCACCCACCCATCCACCTTCCCCTCCATCTATTCACCCATCCACCC ACCCACCCATCCACCTTTCCCTCCATCTACTCACCCATCCACCCACCCAC CCATCCACCTTTCCCTCCATCTACTCACCCATCCACCCACCCACCCATCC ACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTC CCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCC ATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTAC TCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCC ATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCAC CCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCC ACCCATCCACCTTCCCCTCCATTTATTCAACCTCCCACCCACCAACCCAT CCACCTTCCCCTCTATCTATTCAACTATTCAACCACCCACCCACCCACCC ACCATCCATCCACCTTCCGCTCCACCTATTCACCCATCCACCCACCCACC CATCTACCTTTCTCTCCACCTATTCACCCATCCACCCACCCACCCATCTA CCTTCCTCTCCATCTATTCAACTATCCACCCACCCACCCACCTATCCACT TTCCCCTCCATCTATTCAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0198 a0001c0002t0001g0198	1	370	0.0027	1119	c.438 others(1136): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATA GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTG GGTGGATGGGTGAATAGGTGGAGCGGAAGGTGGATGGATGGTGGGTGGGT GGGTGGGTGGTTGAATAGTTGAATAGATAGAGGGGAAGGTGGATGGGTTG GTGGGTGGGAGGTTGAATAAATGGAGGGGAAGGTGGATGGGTGGGTGGGT GGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGG GTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGT AGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGG AGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGA AGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGG ATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGT GGGTGGGTGGATGGGTGAGTAGATGGAGGGAAAGGTGGATGGGTGGGTGG GTGGATGGGTGAGTAGATGGAGGGAAAGGTGGATGGGTGGGTGGGTGGAT GGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGA GTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGAT GGAGGGAAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGG GAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGAAAGGT GGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGG GTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGT GGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGG ATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGT GAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATG		RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13						chr5	TogoVar
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCATCCAC others(1112): Show CCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTTCC CTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTTCCCTCCATCTACTC ACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCAT CCACCCACCCACCCATCCACCTTCCCCTCCATCTATTCACCCATCCACCC ACCCACCCATCCACCTTTCCCTCCATCTACTCACCCATCCACCCACCCAC CCATCCACCTTTCCCTCCATCTACTCACCCATCCACCCACCCACCCATCC ACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTC CCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCC ATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTAC TCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCC ATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCAC CCACCCACCCATCCACCTTCCCCTCCATTTATTCAACCTCCCACCCACCA ACCCATCCACCTTCCCCTCTATCTATTCAACTATTCAACCACCCACCCAC CCACCCACCATCCATCCACCTTCCGCTCCACCTATTCACCCATCCACCCA CCCACCCATCTACCTTTCTCTCCACCTATTCACCCATCCACCCACCCACC CATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCTA CCTTCCTCTCCATCTATTCAACTATCCACCCACCCACCCACCTATCCACT TTCCCCTCCATCTATTCAAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0283 a0001c0001t0029g0283	1	370	0.0027	1119	c.438 others(1136): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATA GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTG GGTGGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTGGGTGGA TGGGTGAATAGGTGGAGCGGAAGGTGGATGGATGGTGGGTGGGTGGGTGG GTGGTTGAATAGTTGAATAGATAGAGGGGAAGGTGGATGGGTTGGTGGGT GGGAGGTTGAATAAATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGG GTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGT AGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGG AGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGA AGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGG ATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGT GGGTGGGTGGATGGGTGAGTAGATGGAGGGAAAGGTGGATGGGTGGGTGG GTGGATGGGTGAGTAGATGGAGGGAAAGGTGGATGGGTGGGTGGGTGGAT GGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGA GTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGAT GGAGGGAAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGG GAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGAAAGGT GGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGG GTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGT GGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGG ATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGT GAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATG		RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13						chr5	TogoVar
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCATCCAC others(1112): Show CCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTTCC CTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTTCCCTCCATCTACTC ACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCAT CCACCCACCCACCCATCCACCTTCCCCTCCATCTATTCACCCATCCACCC ACCCACCCATCCACCTTTCCCTCCATCTACTCACCCATCCACCCACCCAC CCATCCACCTTTCCCTCCATCTACTCACCCATCCACCCACCCACCCATCC ACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTC CCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTTCCCTCC ATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTAC TCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCC ATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCAC CCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCC ACCCATCCACCTTCCCCTCCATTTATTCAACCTCCCACCCACCAACCCAT CCACCTTCCCCTCTATCTATTCAACTATTCAACCACCCACCCACCCACCC ACCATCCATCCACCTTCCGCTCCACCTATTCACCCATCCACCCACCCACC CATCTACCTTTCTCTCCACCTATTCACCCATCCACCCACCCACCCATCTA CCTTCCTCTCCATCTATTCAACTATCCACCCACCCACCCACCTATCCACT TTCCCCTCCATCTATTCAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	370	0.0027	1119	c.438 others(1136): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATA GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTG GGTGGATGGGTGAATAGGTGGAGCGGAAGGTGGATGGATGGTGGGTGGGT GGGTGGGTGGTTGAATAGTTGAATAGATAGAGGGGAAGGTGGATGGGTTG GTGGGTGGGAGGTTGAATAAATGGAGGGGAAGGTGGATGGGTGGGTGGGT GGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGG GTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGT AGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGG AGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGAA AGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGG ATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGT GGGTGGGTGGATGGGTGAGTAGATGGAGGGAAAGGTGGATGGGTGGGTGG GTGGATGGGTGAGTAGATGGAGGGAAAGGTGGATGGGTGGGTGGGTGGAT GGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGA GTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGAT GGAGGGAAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGG GAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGAAAGGT GGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGG GTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGT GGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGG ATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGT GAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATG		RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13						chr5	TogoVar
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCTCTCAC others(1112): Show CCTCTCACCTACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTTCC CTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTTCCCTCCATCTACTC ACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCAT CCACCCACCCACCCATCCACCTTCCCCTCCATCTATTCACCCATCCACCC ACCCACCCATCCACCTTTCCCTCCATCTACTCACCCATCCACCCACCCAC CCATCCACCTTTCCCTCCATCTACTCACCCATCCACCCACCCACCCATCC ACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTC CCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCC ATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTAC TCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCC ATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCAC CCACCCACCCATCCACCTTCCCCTCCATTTATTCAACCTCCCACCCACCA ACCCATCCACCTTCCCCTCTATCTATTCAACTATTCAACCACCCACCCAC CCACCCACCATCCATCCACCTTCCGCTCCACCTATTCACCCATCCACCCA CCCACCCATCTACCTTTCTCTCCACCTATTCACCCATCCACCCACCCACC CATCTACCTTCCTCTCCATCTATTCACCCATCCACCCACCCACCCATCTA CCTTCCTCTCCATCTATTCAACTATCCACCCACCCACCCACCCATCCACT TTCCCCTCCATCTATTCAAA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19090.hp1 NA18977.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0167 a0001c0001t0007g0168 a0001c0001t0007g0167 a0001c0001t0007g0168	2	370	0.0054	1119	c.438 others(1136): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATG GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGGATGGGTGAATAGATGGAGAGGAAGGTAGATGGGTGGGTG GGTGGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTGGGTGGA TGGGTGAATAGGTGGAGCGGAAGGTGGATGGATGGTGGGTGGGTGGGTGG GTGGTTGAATAGTTGAATAGATAGAGGGGAAGGTGGATGGGTTGGTGGGT GGGAGGTTGAATAAATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGG GTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGT AGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGG AGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGA AGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGG ATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGT GGGTGGGTGGATGGGTGAGTAGATGGAGGGAAAGGTGGATGGGTGGGTGG GTGGATGGGTGAGTAGATGGAGGGAAAGGTGGATGGGTGGGTGGGTGGAT GGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGA GTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGAT GGAGGGAAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGG GAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGAAAGGT GGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGG GTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGT GGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGG ATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGT GAGTAGATGGAGGGGAAGGTGGATGGGTGGGTAGGTGAGAG		RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13						chr5	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(1112): Show CATATATATATATATTCCATATATATATATTCCATATATATATATATTCC ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0213 a0001c0003t0001g0213	1	324	0.0031	1119	c.115 others(1136): Show c.115-2588_115-2587insATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT GGAATATATATATATATGGAATATATATATATGGAATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATAT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19						chr20	TogoVar
SMIM36_chr17_55444856_55516452	55500919	A A	ATATTATA others(1112): Show ATATTATAATATGTAACATATTATTATATTTTGTAATATATAATATATTA TTATATATTATAATATATAATATATTATTATATTTTATAATATATAATAT ACTATTATATTTTATAATATATAATATATATCATATTTTATATTATAATA TATAACATATTTTATATATTATAATATATAACATATATTATATATTATAA TATATAACATATATTATATATTATAATATATAACATATATTATATATTAT AATATATAATATATATTATATTTTATAATATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAC ATTTTATAATATATAATATATTACATTTTATAATATATAATATATTACAT ATTATAATATATAATATATTATATTTTATAATATATAATATATTATATTT TATAATATATAATATATTATATTTTATAATATATAATATATAATATATTA TATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATA TTTTATAATATATAATATATTATATTTTATAATATATAATATATTATATT TTATAATATATAATATATTATATTTTATAATATATAATATATTATATTTT ATAATATATAATATATTATATTTTATAATATATTATATATTATATTTTAT AATATATAATATATTATATATTATAATATATAATATATTATATATTATAA TATATAATATATTATATTTTATAATATATATTATATTTTATAATATATAT TATATTTTATAATATATATTATATTTTATAATATATATTATATTTTATAA TATATATTATATTTTATAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0148 a0001c0001t0004g0148	1	340	0.0029	1119	c.17 others(1138): Show c.174+9959_*174+9960insATTATAAAATATAATATATATTATAA AATATAATATATATTATAAAATATAATATATATTATAAAATATAATATAT ATTATAAAATATAATATATATTATAAAATATAATATATTATATATTATAA TATATAATATATTATATATTATAATATATAATATATTATATATTATAAAA TATAATATATAATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATATATTATAAAATATAATATATTATATATTATAAAATAT AATATATTATATATTATAAAATATAATATATTATATATTATAATATGTAA TATATTATATATTATAAAATGTAATATATTATATATTATAAAATGTAATA TATTATATATTATAAAATATAATATATTATATATTATAAAATATAATATA TTATATATTATAAAATATAATATATTATATATTATAAAATATAATATATT ATATATTATAAAATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT ATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATAT TATAAAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATATTATATATTATAATA TATAATATATGTTATATATTATAATATATAATATATGTTATATATTATAA TATATAATATATGTTATATATTATAATATATAAAATATGTTATATATTAT AATATAAAATATGATATATATTATATATTATAAAATATAATAGTATATTA TATATTATAAAATATAATAATATATTATATATTATAATATATAATAATAT ATTATATATTACAAAATATAATAATATGTTACATATTATAATA		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SPIRE2_chr16_89823475_89876319	89852527	C C	CCACCCCC others(1112): Show CCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAT ATTCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGC ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCATCCTCCCTCTCACCCTCAAGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCTTCCG TCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0325 a0001c0001t0003g0325	1	356	0.0028	1119	c.646 others(1136): Show c.646-1751_646-1750insATATTCCATGGCCCATCTTCCATCCTCC CCCCACCCCCCATATTCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCC TCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCC CGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGCATCCCATGGCCCGTCTTCCATCCTCCCTCTCACCCTCAAGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GATCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852527	C C	CCACCCCC others(1112): Show CCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAT ATTCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGC ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGAT CCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGC ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCCGTCTTCCATCCTCCCTCTCACCCTCAAG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0326 a0001c0001t0003g0326	1	356	0.0028	1119	c.646 others(1136): Show c.646-1751_646-1750insATATTCCATGGCCCATCTTCCATCCTCC CCCCACCCCCCATATTCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCC TCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCATCCTCCC TCTCACCCTCAAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCC CGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
TUBB2B_chr6_3219277_3232653	3222288	T T	TCACCATC others(1112): Show TCACCATCATCACCACCACCACCACCACCACTACCACTACCATCATAATT ACCACCACCATCACCACCACCACCACCACTATCACCATCATCACCACCAC CACCACCACCACTACCACCACCACCATCATAATTACCACCACCATCACCA CCACCACCACCACTATCACCATCATCACCACCACCACCACCACTAGCACA ACCACAACACTACCACATCACCACCACCACTACCACTACTACCATCACCA TCACCACCACCATCACCACCACCACCACAATACTACCACATCACCACCAC CACCATCATCATCACCACCACTACCACCACCACTACCACCACCACCACCA TCACTACTACCATCACCACCACCACCACCATCACCACCACCACGACCACC ACAACACTACCACATCACCACCACCACGACCACCACTGCCACCACCACTA CCACCACCACCACTACCACCATCGCCACCATCACCACCACATCACCACCA CCACCACCACTACTACCACCACCACCACCATCACCACTACTACCATCACC ACTACCACCACCACCACCATCACCACCACCATCACCACCACCACTACCAC TACCACCATCACAATCACCACCACCATCACCACCACCACTACCACCACCA CCACTACCACCATCGCCACCATCACCACCACATCACCACCACCACCACAC TACCACCACCACCACCATCACCACTACTACCATCACCACTACTACCACCA CCACCATCACCACTACTACCATCACCACTACTACCACCACCACCATCACA ATCACCACTATCACCATCATCACCATCACTACCACCACCACCATCACCAT CATCGCCACCACCACCAACACTACTGCCACCACCACTATTACCATCACCA CCACTACTACCACCACCACTACCATAACCACCATCATCACCATCACCATC ATTACTGCTATTATGACCACCATCACTACCACCATTATCACCACCACCAC TAAACTACCACCACTACCTCACTGCCATCATCACCATCACCATTACTAAC ATCACCATTACTAACATCACCATTATAATACTACCACCATCACTACCACC ACCACCACCACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	360	0.0028	1119	c.24 others(1130): Show c.2462_*2463insGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGG TGGTAGTATTATAATGGTGATGTTAGTAATGGTGATGTTAGTAATGGTGA TGGTGATGATGGCAGTGAGGTAGTGGTGGTAGTTTAGTGGTGGTGGTGAT AATGGTGGTAGTGATGGTGGTCATAATAGCAGTAATGATGGTGATGGTGA TGATGGTGGTTATGGTAGTGGTGGTGGTAGTAGTGGTGGTGATGGTAATA GTGGTGGTGGCAGTAGTGTTGGTGGTGGTGGCGATGATGGTGATGGTGGT GGTGGTAGTGATGGTGATGATGGTGATAGTGGTGATTGTGATGGTGGTGG TGGTAGTAGTGGTGATGGTAGTAGTGGTGATGGTGGTGGTGGTAGTAGTG GTGATGGTAGTAGTGGTGATGGTGGTGGTGGTGGTAGTGTGGTGGTGGTG GTGATGTGGTGGTGATGGTGGCGATGGTGGTAGTGGTGGTGGTGGTAGTG GTGGTGGTGATGGTGGTGGTGATTGTGATGGTGGTAGTGGTAGTGGTGGT GGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGGTGATGGTAGTAG TGGTGATGGTGGTGGTGGTGGTAGTAGTGGTGGTGGTGGTGGTGATGTGG TGGTGATGGTGGCGATGGTGGTAGTGGTGGTGGTGGTAGTGGTGGTGGCA GTGGTGGTCGTGGTGGTGGTGATGTGGTAGTGTTGTGGTGGTCGTGGTGG TGGTGATGGTGGTGGTGGTGGTGATGGTAGTAGTGATGGTGGTGGTGGTG GTAGTGGTGGTGGTAGTGGTGGTGATGATGATGGTGGTGGTGGTGATGTG GTAGTATTGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTAGTA GTGGTAGTGGTGGTGGTGATGTGGTAGTGTTGTGGTTGTGCTAGTGGTGG TGGTGGTGGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGATGGTGGTG GTAATTATGATGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGATGAT GGTGATAGTGGTGGTGGTGGTGGTGATGGTGGTGGTAATTATGATGGTAG TGGTAGTGGTGGTGGTGGTGGTGGTGATGATGGTG		TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding					1988		chr6	TogoVar
U2AF2_chr19_55650035_55679716	55670466	C C	CCGTGCAC others(1112): Show CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCT GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGT GCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTG CACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGC ACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGC ACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCA CCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCC TGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCT GCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCT GCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCT GCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGCCCGTGCACCCTG CTGCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGC TGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGC TGTCCCGTGCACCCTGCTGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0047	1	394	0.0025	1119	c.129 others(1136): Show c.1293+775_1293+776insGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTG TCCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTC CCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCC CGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGC ACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCA CCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGCCCGTGCACCCTGCTGCCCGTGCACCCTGCTGTCCCGTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACC CTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTC		U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
ADAMTS17_chr15_99966437_100346975	100162448	T T	TGTATATA others(1113): Show TGTATATATATGCACATATACACATGCGTGTATATATATGCACATACACA TGCGTGTATATATATGCACATATACACATGCGTGTATATATATGCACATA TACACATGCGTGTATATATATGCACATATACACATGCGTGTATATATATG CACATATACACATGCGTGTATATATATGCACATATACACATGCGTGTATA TATATGCACATATACACATGCGTGTATATATATGCACATATACACATGCG TGTATATATATGTGCACATATACACATGCGTGTATATATATGTGCACATA TACACATGCGTGTATATATATGTGCACATATACACATGCGTGTATATATA TGTGCACATATACACATGCGTGTATATATATGTGCATATACACATGCGTG TATATATATGTGCACATATACACATGCGTGTATATATATGTGCACATATA CACATGCGTGTATATATATGTGCACATATACACATGCGTGTATATATATG TGCACATATACACATGCGTGTATATATATGTGCACATATACACATGCGTG TATATATATGTGCACATATACACATGCGTGTATATATATGTGCACATATA CACATGCGTGTATATATGTGCACATATACACATGCGTGTATATATGTGCA CATATACACATGCGTGTATATATGTGCACATATACACATGCGTGTATATA TGTGCACATATACACATGCGTGTATATATGTGCACATATACACATTATAT GTGTGTATATATGTGCACATATACACATTATATGTGTGTATATATATGCA CATATACACATTATATGTGTGTATATATATGCACATATACACATTATATG TGTGTATATATGCACATATACACATTGTGTGTATATATGCACATATACAC ATTGTGTGTATATATGCACATATACACATTATATGTGTATATATATGCAC ATATACACATTATATGTGTATATATATGCACATATACACATATGTGTGTA TATATATGCACATATACACATATGTGTGTATATATATGCACATATACACA TATGTGTGTATATATATGCACATATACAAATTAGTGTGTATATATATGCA CATATACACATTATATGTGTG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0028 a0001c0010t0028	a0001c0010t0028g0037 a0001c0010t0028g0037	1	228	0.0044	1120	c.118 others(1139): Show c.1182-7129_1182-7128insCACACATATAATGTGTATATGTGCAT ATATATACACACTAATTTGTATATGTGCATATATATACACACATATGTGT ATATGTGCATATATATACACACATATGTGTATATGTGCATATATATACAC ACATATGTGTATATGTGCATATATATACACATATAATGTGTATATGTGCA TATATATACACATATAATGTGTATATGTGCATATATACACACAATGTGTA TATGTGCATATATACACACAATGTGTATATGTGCATATATACACACATAT AATGTGTATATGTGCATATATATACACACATATAATGTGTATATGTGCAT ATATATACACACATATAATGTGTATATGTGCACATATATACACACATATA ATGTGTATATGTGCACATATATACACGCATGTGTATATGTGCACATATAT ACACGCATGTGTATATGTGCACATATATACACGCATGTGTATATGTGCAC ATATATACACGCATGTGTATATGTGCACATATATACACGCATGTGTATAT GTGCACATATATATACACGCATGTGTATATGTGCACATATATATACACGC ATGTGTATATGTGCACATATATATACACGCATGTGTATATGTGCACATAT ATATACACGCATGTGTATATGTGCACATATATATACACGCATGTGTATAT GTGCACATATATATACACGCATGTGTATATGTGCACATATATATACACGC ATGTGTATATGCACATATATATACACGCATGTGTATATGTGCACATATAT ATACACGCATGTGTATATGTGCACATATATATACACGCATGTGTATATGT GCACATATATATACACGCATGTGTATATGTGCACATATATATACACGCAT GTGTATATGTGCATATATATACACGCATGTGTATATGTGCATATATATAC ACGCATGTGTATATGTGCATATATATACACGCATGTGTATATGTGCATAT ATATACACGCATGTGTATATGTGCATATATATACACGCATGTGTATATGT GCATATATATACACGCATGTGTATATGTGCATATATATACACGCATGTGT ATGTGCATATATATACACGCATGTGTATATGTGCATATATATAC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	8/21						chr15	TogoVar
AHRR_chr5_316714_443285	318049	C C	CCCTCCCC others(1113): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCA CCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCC CCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCC CCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTT CCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTC CCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTTACC CTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCATCTCCCCCAA CCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCC ACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACC TCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTC CATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCC TTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCA CCCTTACCCTGCACCTCTCCCCATCTTTTACCTCCCCCCACCCTGCATCT CCCCCCAACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCAGCCTCCAC CTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCGCCCTC ACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCC CAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCC CCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	268	0.0037	1120	c.-37 others(1131): Show c.-3781_-3780insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCACCTCCTCCCCAGCCT CCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCC CCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCT CCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTC ACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCC CCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCA CCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACC CTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCA CCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCC CCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTA CCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTT CACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTACCTCC CCCCACCCTGCATCTCCCCCCAACCCTGCACCTCCCCCCATCCTTTACCT CCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCT GCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCA CCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCC CTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding					3664		chr5	TogoVar

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