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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(912): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGTGT GGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTC TGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGT GTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAG TCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGG GGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACT GAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGG GGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCA CTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGATGG GCGGGGCGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATG CACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGA GGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGCGTGGGGA TGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGG AGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGA TGCACTGAGTCTGGGGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGG GGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGG GGATGCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	34	0.0294	919	c.299 others(934): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCA GTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACT CAGTGCATCCCCACACCCCCCCCTCCCCAGACTCAGTGCATCCCCACGCC CCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGAC TCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACA CCCCGCCCATCCCCAGACTCAGTGCATCCCCACGCCCCGCCCATCCCCAG ACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCA CACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCC AGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCC CACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCCTCC CCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCAT CCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCT CCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGC ATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCC TCCCCCAGACTCAGTGCATCCCCACGCCCCCCCTCCCCCCAGACTCAGTG CATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCATGCCCCGC CCTCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PPP6R2_chr22_50338327_50450090	50397547	A A	AGGGGGGC others(912): Show AGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCC TGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGCATGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGT TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCA CCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTG TCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGG GGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCC TTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGG GGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAG TGTGACTTGGGATGGGGGCG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0179 a0001c0002t0005g0179	1	181	0.0055	919	c.227 others(936): Show c.227+3417_227+3418insGCCTGTCCTCACCAGCCCTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTC TCTGAGGAGCATGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGC CTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCG GGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGA GTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATC TCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCT GTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACC AGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTC ATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG CCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGA GCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(912): Show AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAG TTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGT CCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTT TCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCA GCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGG CAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0293 a0001c0002t0003g0293	1	210	0.0048	919	c.227 others(936): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCA CCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCT GTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTC CTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTT CTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAG CCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC GGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(912): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATATGTAATACACAATATATA TTATATAATATGTAATACACAATATATATTATATAATATGTAATACACAA TATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATATGTAATACACAATATATTATATAATA TGTAATACACAATATATTATATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACATTAT ACATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTAT ATGTAATATATATTATACATTATTATATAAGTATATGTAATATATATTAT ACATTATTATATAAGCATATAATATATAATACATAATACATTATATATAA GCATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp2 HG02897.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0082 a0001c0001t0006 a0001c0001t0082	a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0082g0107 a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0082g0107	3	21	0.1429	919	c.24+ others(936): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATATGTAATACACAATATATATTATATAATATGTAATACACAATATATAT TATATAATATGTAATACACAATATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATATGTAA TACACAATATATTATATAATATGTAATACACAATATATTATATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACATTATACATTATTATATAAGTATATGTAATACAT TATACATTATTATATAAGTATATGTAATATATATTATACATTATTATATA AGTATATGTAATATATATTATACATTATTATATAAGCATATAATATATAA TACATAATACATTATATATAAGCATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(912): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATATGTAATACACAATATATA TTATATAATATGTAATACACAATATATATTATATAATATGTAATACACAA TATATATTATATAATATGTAATACACAATATATATTATATAATATGTAAT ACACAATATATATTATATAATATGTAATACACAATATATATTATATAATA TGTAATACACAATATATTATATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACATTAT ACATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTAT ATGTAATATATATTATACATTATTATATAAGTATATGTAATATATATTAT ACATTATTATATAAGCATATAATATATAATACATAATACATTATATATAA GCATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0134 a0001c0001t0011g0134	1	19	0.0526	919	c.24+ others(936): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATATGTAATACACAATATATATTATATAATATGTAATACACAATATATAT TATATAATATGTAATACACAATATATATTATATAATATGTAATACACAAT ATATATTATATAATATGTAATACACAATATATATTATATAATATGTAATA CACAATATATATTATATAATATGTAATACACAATATATTATATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACATTATACATTATTATATAAGTATATGTAATACAT TATACATTATTATATAAGTATATGTAATATATATTATACATTATTATATA AGTATATGTAATATATATTATACATTATTATATAAGCATATAATATATAA TACATAATACATTATATATAAGCATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RBFOX1_chr16_6014024_7718340	7147041	G G	GCGATCTC others(912): Show GCGATCTCGGCTCACTGCAAGCTCCGCCTACCGGGTTCACGCCACTCTCC TGCCTCAGCCTCCCAAGTAGCTTGGACTACAGGTACCCACCACCATGCTT GGCTAACTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCA CGATGGTCTCGATCTCATGACCTCGTGATCCACCCGCCTTGGCCTCCCAA AGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCAAATGCGTTTTT TTCAACTGCAGTTGGTTCTAGTGTTTATTTGCATTTTGTTTTATTGCAGA CCTTCATGGCACTTGAAATCGGGCCTTGAGACTCCCACCGCAGTGGGTGC TGCGTATGTCACACTCAACACATGATTCTGTTAATTCACCAGCCAAGAGC CATCATGTGGCTGTGGTTTGAAGCCCAAGGACCCTTTAGGTTTACTCTTG CTTCATCTCATGGCCTCCACCTTGACATTGAGGCTGTTGCTGTGGGCGAG TACCTAGTTTATTTCTATGGAGAAATCTGATCAAACAGCATCTTGAGTTT GACAGCAAACAAGAAAAACCATAGGGTCAGTGACATTTAAAGGAGTCCCA TGGAAGCCATGATTGGGATAAGTGAAGACTGAAGAAAAACAAATGGGGGT TATTTTTCTAAGTGGGTTTTCAATAAGTAAGTTTTCAATAAGTAATTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGCAGGTATGCACTCTTT TGGGTCTTTTGCGTGTGTTAAATTTTTATTTTTTGCAATTTTTATTTTAG GTTCAAATACTACATGCACAGGTTTGTTACATGGGTAAATTGTTTATTTA TTTAATTATTATTATTATTATTATTTGAGATGGAGTCTCACTCTGTTGCC CAGGCTAGAGTGCAGTGGCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01175.hp2 HG01261.hp2 others(2): Show HG00280.hp1 HG01175.hp2 HG01261.hp2 HG03490.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0024 a0001c0001t0002 a0001c0001t0016 a0001c0001t0024	a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0044 others(2): Show a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0044 a0001c0001t0016g0011 a0001c0001t0024g0008	5	11	0.4545	919	c.27+ others(936): Show c.27+94944_27+94945insGATCTCGGCTCACTGCAAGCTCCGCCTA CCGGGTTCACGCCACTCTCCTGCCTCAGCCTCCCAAGTAGCTTGGACTAC AGGTACCCACCACCATGCTTGGCTAACTTTTTTTATTTTTAGTAGAGATG GGATTTCACCATGTTAGCCACGATGGTCTCGATCTCATGACCTCGTGATC CACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAC GCCCAGCCAAATGCGTTTTTTTCAACTGCAGTTGGTTCTAGTGTTTATTT GCATTTTGTTTTATTGCAGACCTTCATGGCACTTGAAATCGGGCCTTGAG ACTCCCACCGCAGTGGGTGCTGCGTATGTCACACTCAACACATGATTCTG TTAATTCACCAGCCAAGAGCCATCATGTGGCTGTGGTTTGAAGCCCAAGG ACCCTTTAGGTTTACTCTTGCTTCATCTCATGGCCTCCACCTTGACATTG AGGCTGTTGCTGTGGGCGAGTACCTAGTTTATTTCTATGGAGAAATCTGA TCAAACAGCATCTTGAGTTTGACAGCAAACAAGAAAAACCATAGGGTCAG TGACATTTAAAGGAGTCCCATGGAAGCCATGATTGGGATAAGTGAAGACT GAAGAAAAACAAATGGGGGTTATTTTTCTAAGTGGGTTTTCAATAAGTAA GTTTTCAATAAGTAATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TATGCAGGTATGCACTCTTTTGGGTCTTTTGCGTGTGTTAAATTTTTATT TTTTGCAATTTTTATTTTAGGTTCAAATACTACATGCACAGGTTTGTTAC ATGGGTAAATTGTTTATTTATTTAATTATTATTATTATTATTATTTGAGA TGGAGTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7147041	G G	GCGATCTC others(912): Show GCGATCTCGGCTCACTGCAAGCTCCGCCTACCGGGTTCACGCCACTCTCC TGCCTCAGCCTCCCAAGTAGCTTGGACTACAGGTACCCACCACCATGCTT GGCTAACTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCA CGATGGTCTCGATCTCATGACCTCGTGATCCACCCGCCTTGGCCTCCCAA AGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCAAATGCGTTTTT TTCAACTGCAGTTGGTTCTAGTGTTTATTTGCATTTTGTTTTATTGCAGA CCTTCATGGCACTTGAAATCGGGCCTTGAGACTCCCACCGCAGTGGGTGC TGCGTATGTCACACTCAACACATGATTCTGTTAATTCACCAGCCAAGAGC CATCATGTGGCTGTGGTTTGAAGCCCAAGGACCCTTTAGGTTTACTCTTG CTTCATCTCATGGCCTCCACCTTGACATTGAGGCTGTTGCTGTGGGCGAG TACCTAGTTTATTTCTATGGAGAAATCTGATCAAACAGCATCTTGAGTTT GACAGCAAACAAGAACAACCATAGGGTCAGTGACATTTAAAGGAGTCCCA TGGAAGCCATGATTGGGATAAGTGAAGACTGAAGAAAAACAAATGGGGGT TATTTTTCTAAGTGGGTTTTCAATAAGTAAGTTTTCAATAAGTAATTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGCAGGTATGCACTCTTT TGGGTCTTTTGCGTGTGTTAAATTTTTATTTTTTGCAATTTTTATTTTAG GTTCAAATACTACATGCACAGGTTTGTTACATGGGTAAATTGTTTATTTA TTTAATTATTATTATTATTATTATTTGAGATGGAGTCTCACTCTGTTGCC CAGGCTAGAGTGCAGTGGCA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0066 a0001c0001t0005g0066	1	7	0.1429	919	c.27+ others(936): Show c.27+94944_27+94945insGATCTCGGCTCACTGCAAGCTCCGCCTA CCGGGTTCACGCCACTCTCCTGCCTCAGCCTCCCAAGTAGCTTGGACTAC AGGTACCCACCACCATGCTTGGCTAACTTTTTTTATTTTTAGTAGAGATG GGATTTCACCATGTTAGCCACGATGGTCTCGATCTCATGACCTCGTGATC CACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAC GCCCAGCCAAATGCGTTTTTTTCAACTGCAGTTGGTTCTAGTGTTTATTT GCATTTTGTTTTATTGCAGACCTTCATGGCACTTGAAATCGGGCCTTGAG ACTCCCACCGCAGTGGGTGCTGCGTATGTCACACTCAACACATGATTCTG TTAATTCACCAGCCAAGAGCCATCATGTGGCTGTGGTTTGAAGCCCAAGG ACCCTTTAGGTTTACTCTTGCTTCATCTCATGGCCTCCACCTTGACATTG AGGCTGTTGCTGTGGGCGAGTACCTAGTTTATTTCTATGGAGAAATCTGA TCAAACAGCATCTTGAGTTTGACAGCAAACAAGAACAACCATAGGGTCAG TGACATTTAAAGGAGTCCCATGGAAGCCATGATTGGGATAAGTGAAGACT GAAGAAAAACAAATGGGGGTTATTTTTCTAAGTGGGTTTTCAATAAGTAA GTTTTCAATAAGTAATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TATGCAGGTATGCACTCTTTTGGGTCTTTTGCGTGTGTTAAATTTTTATT TTTTGCAATTTTTATTTTAGGTTCAAATACTACATGCACAGGTTTGTTAC ATGGGTAAATTGTTTATTTATTTAATTATTATTATTATTATTATTTGAGA TGGAGTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RYR1_chr19_38428691_38592564	38546744	G G	GAGTTTGA others(912): Show GAGTTTGAGACCAGCCCGGCCAACATGGTGAAAACCCATCTCTACTAAAA ATACAAAAATTAGCTTAGCCCGGCGTGGTAGCATGTGCCTGTAATCTCAG CTACTCAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGCAGAAA TTACAGTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGTGACAAAAG CAAAACTCCAGCTCAAAAAAAAAAAAAAAAAAAAAATCAGAAGGTTCCCT TTAAAATCAAGATTTCCAGCTTTTCTTGGAAAACTGTAAGCTTCAGTGAC CCTGGGTCCACATTCTCACATGGCAAAAATTCGCTGGATTAGATGAAATA ACTTAATTATATCAATGTTAGATCTCTAGATGTTCATGATAGCATGGTGA TTATATTAAACAATGTCCTTGTCTTTTAGGACATAGACACCGAAATGTTT AAGGGTAAAAGGACCGCATGTCTGCAACTTACTCTCAAATTGTTCAGAAA AAAAATATACAGAGAGAAAGAGAATTTTTTTTTTTTTTTGAGATGGAGTC TCGCTGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGC AAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAAT AGCTGGGACTACAGGCACCCACCACCATGCCTGGCTAATTTTTTGTATTT TTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCACCCGGCCGAGAAAGAAAATGATAAAACAAATGTGATG CAGGGTGCGTCACGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCA GAGGATCTCTTGAGCCCAGC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	120	0.0083	919	c.120 others(938): Show c.12094+233_12094+234insCGGCCAACATGGTGAAAACCCATCTC TACTAAAAATACAAAAATTAGCTTAGCCCGGCGTGGTAGCATGTGCCTGT AATCTCAGCTACTCAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGA GGCAGAAATTACAGTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGT GACAAAAGCAAAACTCCAGCTCAAAAAAAAAAAAAAAAAAAAAATCAGAA GGTTCCCTTTAAAATCAAGATTTCCAGCTTTTCTTGGAAAACTGTAAGCT TCAGTGACCCTGGGTCCACATTCTCACATGGCAAAAATTCGCTGGATTAG ATGAAATAACTTAATTATATCAATGTTAGATCTCTAGATGTTCATGATAG CATGGTGATTATATTAAACAATGTCCTTGTCTTTTAGGACATAGACACCG AAATGTTTAAGGGTAAAAGGACCGCATGTCTGCAACTTACTCTCAAATTG TTCAGAAAAAAAATATACAGAGAGAAAGAGAATTTTTTTTTTTTTTTGAG ATGGAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAG CTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCC TCCCGAATAGCTGGGACTACAGGCACCCACCACCATGCCTGGCTAATTTT TTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCACCCGGCCGAGAAAGAAAATGATAAAACAA ATGTGATGCAGGGTGCGTCACGTGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCCAGAGGATCTCTTGAGCCCAGCAGTTTGAGACCAGCC	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	88/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(912): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATATTCCATATATATATATATTCCATATATAT ATATATATTCCATATATATATATATTCCATATATATATATATATTCCATA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATATTCCATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATTCCATATATATATATATTCCATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATATTCCATATATATATATT CCATATATATATATATTCCATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATTCCATATATATATATATTCC ATATATATATATTCCATATATATATATTCCATATATATATATTCCATATA TATATATTCCATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATTCCATATATATATATTCCATATA TATATATTCCATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0135 a0001c0011t0001g0135	1	230	0.0043	919	c.115 others(936): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATATATGGAATATATATATATGGAATATATATAT ATATGGAATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATGGAATATATATATATATGGAATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATG GAATATATATATATATGGAATATATATATATGGAATATATATATATATGG AATATATATATATGGAATATATATATATATGGAATATATATATATGGAAT ATATATATATATATGGAATATATATATATATGGAATATATATATATATAT GGAATATATATATATATGGAATATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SLC31A1_chr9_113216544_113269492	113250305	T T	TAAGAAAA others(912): Show TAAGAAAATGTGGCACATATACACCATGGAATATTATGCAGCCATAAAAA ATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTC ACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGGTAG CATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCA CCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAGATC ACACCACTGCACTCCAGCCTGGGTGTCAAAGCGAGACCCTGTCTCAGGAA AAAAAAAAAAAAAAAAAAAAGGCTTAATTGATTGAACCAGATTCGAGAAA ACAGTGCGAAATTATAATTTTCTCAATACTGTAAATATTTTTCAATCTTC AGCTTCATTAACTTCTATAATTTGAAATTATCCCAATTATTACCTGACAT GTACTAAAATTCCCTAAAATGGATCTTGAGTAACATTTTCACAGTACGAT AATTTTTCTCTCTGTATATATTTATATAGTCACATATATGCACATACATT ATACAAGCATTACTTTTCTATAACTGTAAGGTCAGAATTTGAAGTTGTGT TTTCTTTATCTTTTTATTTCCAATACTTGGCATCAAGTTGATATTCATTA GAAGTAAAGGAGGAAGGAAATGAATAATCTTCAGATACTAAGAACATTAC ACTTAAATTATTATTAAATCTAATTTGCATTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA20752.hp1 HG01361.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0038	2	376	0.0053	919	c.-35 others(936): Show c.-35-5777_-35-5776insTTATGCAGCCATAAAAAATGATGAGTTC ATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAA ACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTG GGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTC TGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGGTAGCATTGGGAGAT ATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCA CATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAA CTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAGATCACACCACTGCA CTCCAGCCTGGGTGTCAAAGCGAGACCCTGTCTCAGGAAAAAAAAAAAAA AAAAAAAAAGGCTTAATTGATTGAACCAGATTCGAGAAAACAGTGCGAAA TTATAATTTTCTCAATACTGTAAATATTTTTCAATCTTCAGCTTCATTAA CTTCTATAATTTGAAATTATCCCAATTATTACCTGACATGTACTAAAATT CCCTAAAATGGATCTTGAGTAACATTTTCACAGTACGATAATTTTTCTCT CTGTATATATTTATATAGTCACATATATGCACATACATTATACAAGCATT ACTTTTCTATAACTGTAAGGTCAGAATTTGAAGTTGTGTTTTCTTTATCT TTTTATTTCCAATACTTGGCATCAAGTTGATATTCATTAGAAGTAAAGGA GGAAGGAAATGAATAATCTTCAGATACTAAGAACATTACACTTAAATTAT TATTAAATCTAATTTGCATTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGAAAATGTGGCACATATACACCATGGAATA	SLC31A1	ENSG00000136868.11	transcript	ENST00000374212.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC31A1_chr9_113216544_113269492	113250305	T T	TAAGAAAA others(912): Show TAAGAAAATGTGGCACATATACACCATGGAATATTATGCAGCCATAAAAA ATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTC ACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGGAGGGGTA GCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGC ACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACA TGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAGAT CACACCACTGCACTCCAGCCTGGGTGTCAAAGCGAGACCCTGTCTCAGGA AAAAAAAAAAAAAAAAAAAAAAGGCTTAATTGATTGAACCAGATTCGAGG AAAACAGTGCGAAATTATAATTTTCTCAATACTGTAAATATTTTTCAATC TTCAGCTTCATTAACTTCTATAATTTGAAATTATCCCAATTATTACCTGA CATGTACTAAAATTCCCTAAAATGGATCTTGAGTAACATTTTCACAGTAC GATAATTTTTCTCTCTGTATATATTTATATAGTCACATATATGCACATAC ATTATACAAGCATTACTTTTCTATAACTGTAAGGTCAGAATTTGAAGTTG TGTTTTCTTTATCTTTTTATTTCCAATACTTGGCATCAAGTTGATATTCA TTAGAAGTAAAGGAGGAAGGAAATGAATAATCTTCAGATACTAAGAACAT TACACTTAAATTATTATTAAATCTAATTTGCATTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0319 a0001c0001t0012g0319	1	375	0.0027	919	c.-35 others(936): Show c.-35-5777_-35-5776insTTATGCAGCCATAAAAAATGATGAGTTC ATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAA ACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTG GGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTC TGGGGACTGTGGTGGGGTCGGGGGAGGGGGGGAGGGGTAGCATTGGGAGA TATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGC ACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAA ACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAGATCACACCACTGC ACTCCAGCCTGGGTGTCAAAGCGAGACCCTGTCTCAGGAAAAAAAAAAAA AAAAAAAAAAAGGCTTAATTGATTGAACCAGATTCGAGGAAAACAGTGCG AAATTATAATTTTCTCAATACTGTAAATATTTTTCAATCTTCAGCTTCAT TAACTTCTATAATTTGAAATTATCCCAATTATTACCTGACATGTACTAAA ATTCCCTAAAATGGATCTTGAGTAACATTTTCACAGTACGATAATTTTTC TCTCTGTATATATTTATATAGTCACATATATGCACATACATTATACAAGC ATTACTTTTCTATAACTGTAAGGTCAGAATTTGAAGTTGTGTTTTCTTTA TCTTTTTATTTCCAATACTTGGCATCAAGTTGATATTCATTAGAAGTAAA GGAGGAAGGAAATGAATAATCTTCAGATACTAAGAACATTACACTTAAAT TATTATTAAATCTAATTTGCATTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGAAAATGTGGCACATATACACCATGGAATA	SLC31A1	ENSG00000136868.11	transcript	ENST00000374212.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
TH_chr11_2158929_2176815	2161729	C C	CCCCAGAC others(912): Show CCCCAGACCCCTGTCCCCACACCCCCTGTCCCCGGGACCCCTGTCCCCAC ACCCCTGTCCCCACACCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTC CCCGGGACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCACAC CCCTGTCCCCGGGACCCCTGTCCCACACCCCTATCCCCACACCCCTGTCC ACACACCCCTATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCC CTGTCCCCGGACCCCTGTCCCCACACCCCCTGTCCCCACACCCCTGTCCC CACACCCCTGTCCCCAGACCCCTGTCCCCGGGACCCCTGTCCCCACACCC CCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCC CAGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCA CACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCACACCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACA CCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGACCCCTGTC CCCACACCCCTGTCCCCGGGACCCCTGTCCTCACACCCCTGTCCCCACAC CCCTGTCCCCAGGACCCCTGTCCTCACACCCCTGTCCCCAGGACCCTGTC CCCGGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACAA CCCCTGTCCCCAGACCCCTGTCCCCAGACCCCTATCCCCACACCCCTGTC CCCAGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACAC CCCTGTCCCCAGACCCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	357	0.0028	919	c.25 others(930): Show c.2503_*2504insACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGG GTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGG GATAGGGGTCTGGGGACAGGGGTCTGGGGACAGGGGTTGTGGGGACAGGG GTCCCGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGACAGGGTCCTGGG GACAGGGGTGTGAGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGG GTGTGAGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGG GACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTCTGGGGACAGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTC TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGGTGTGGGGACAG GGGTCCCGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGGTGTGGGGACAGGGGTCCGGGGACAGGGGTGTGGGGACAG GGGTCTGGGGACAGGGGTGTGGGGATAGGGGTGTGTGGACAGGGGTGTGG GGATAGGGGTGTGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGG GTGTGGGGATAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGG GACAGGGGTCTGGGGACAGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT CCCGGGGACAGGGGGTGTGGGGACAGGGGTCTGGG	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2199		chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870212	C C	CACACCAC others(912): Show CACACCACACACCACACACCCCACACACACATCACACACCACACACACCA CACACACCCCACACACACCACACACACACATCACATACCACACACCCGAC ACACGCCACACACACACCATACACCCCACACACCACACACACCACACACC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACAAACCACACACCCTACA CACCCCACACACACCACACACCACACACACCCCACACACACCACACCCCA CACACACCACACACCCCCCACACACACCACACCCCATACACACCACACCC CACACACACCACACCCCATACACACCACACACCCCACACACACCACACAC CCCACACACACCACACCCCATACACACCACACCCCCCACACACCACACAC CCCACACACACCACACCCCACACACACCCCACACACACCACACACCCCCC ACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACAAACCACACACACCACACACCCCACACACACCACACA AACCACACACACCACACACCCCACACACACCACACACCCCACACACACCA CACACCCCACACACACCACACAAACCACACACACCACACACCCCACACAC ACCACACACACACATCACAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	324	0.0031	919	c.35 others(938): Show c.35+21479_*35+21480insACACCACACACCACACACCCCACACA CACATCACACACCACACACACCACACACACCCCACACACACCACACACAC ACATCACATACCACACACCCGACACACGCCACACACACACCATACACCCC ACACACCACACACACCACACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACAAACCACACACCCTACACACCCCACACACACCACACACCACACA CACCCCACACACACCACACCCCACACACACCACACACCCCCCACACACAC CACACCCCATACACACCACACCCCACACACACCACACCCCATACACACCA CACACCCCACACACACCACACACCCCACACACACCACACCCCATACACAC CACACCCCCCACACACCACACACCCCACACACACCACACCCCACACACAC CCCACACACACCACACACCCCCCACACACCACACACCCCACACACACCAC ACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC CCCACACACACCACACACCCCACACACACCACACACCCCACACACACCAC ACCCCACACACACCACACACCCCACACACACCACACAAACCACACACACC ACACACCCCACACACACCACACAAACCACACACACCACACACCCCACACA CACCACACACCCCACACACACCACACACCCCACACACACCACACAAACCA CACACACCACACACCCCACACACACCACACACACACATCACAT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870214	C C	CCACACAC others(912): Show CCACACACACCACACACCCCCCACACACCACACACCATACACACCACACC CCACACACACCACACCCCCCACACACCACACCCCATACACACCACACCCC ATACACACCACACCCCACACACACCACACACCCCCCACACACCACACACC CCACACACACCACACCCCATACACACCACACCCCACACACACCACACACC CCCCACACACCACACACCCCACACACACCACACCCCACACACACCACACA CCCCCCACACACCACACACCCCACACACACCACACCCCATACACACCACA CCCCACACACACCACACACCCCCCACACACCACACACCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACACCCCCCACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCATACACACCACA CACCCCCCACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CACCCCATACACACCACACACCCCCCACACACCACACCCCATACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CACCCCCCACACACCACACCCCATACACACCACACCCCACACACACCACA CACCCCACACACACCACACACCCCACACACACCACACAAACCACACACCC TACACACCCCACACACACCA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	289	0.0035	919	c.35 others(938): Show c.35+21490_*35+21491insCACACACCCCCCACACACCACACACC ATACACACCACACCCCACACACACCACACCCCCCACACACCACACCCCAT ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCCC ACACACCACACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCCCCCACACACCACACACCCCACACACACCACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCCCACACACCACACA CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACA CCCCCCACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCATACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCATACACACCACACACCCCCCACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCATACACACCACACACCCCCCACACACCACA CCCCATACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACCACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACACCCCCCACACACCACACCCCATACACACCACACC CCACACACACCACACACCCCACACACACCACACACCCCACACACACCACA CAAACCACACACCCTACACACCCCACACACACCACACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UCN3_chr10_5359966_5379692	5370262	C C	CGTGTGTA others(912): Show CGTGTGTATGTGTGTGTATGTGTGTGTGTATGGGTGTGTATATGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTG TATGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATG CGTGTGGGTATATGCGTGTGTATGCGTGTGGGTATATGCGTGTGTGTGTA TGCGTGTGTGTATATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTG TGTATGTGTGTGTGTATCTGTGTGTGTGTGTATGTGTGTATGTGTGTGTA TATGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTGTGTGTATGTGTGTG TATGTGTGTGTATGTGTGTATATGTGTGTATATGTGTGTGTACGTGTGTG TGTATGTGTGTATGTGTGTGTATGTGTGTATGTGTGTATGTGTGTATGTG TGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATG TGTGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATA TATGCGTGTGTGTATGCGTGTGTATGCGTGTGTGTATGTGTGTGTATGTG TGTGTATATGCGTGTGTATGCGTGTGTATGCGTGTGTATGGGTGTGTGTA TGTGTGTGTATGTGTGTGTGTATATGTGTGTATATGTGTGTGTATATGTG TGTATGTGTGTATATGTGTGCGTATATGCGTGTGTATATGCGTGTGTATG TGCGTGTGTATGTGCGTGTGTATATGCGTGTGTATGTGTGTATGTGTGTG TATATGATGTGAGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGT GTGTGTGTATGCGTGTGTATATGTGTGTGTATATGTGTGTGTGCGTGTGT GTGCGCGTGTGTGTGCGTGT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0128 a0002c0002t0003g0128	1	341	0.0029	919	c.-6- others(934): Show c.-6-3445_-6-3444insGTGTGTGTATGTGTGTGTGTATGGGTGTGT ATATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGT ATGTGTGTGTGTATGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATAT GCGTGTGTATGCGTGTGGGTATATGCGTGTGTATGCGTGTGGGTATATGC GTGTGTGTGTATGCGTGTGTGTATATGTGTGTATGTGTGTGTATATGTGT GTGTATGTGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTGTATGTGTGT ATGTGTGTGTATATGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTGTGT GTATGTGTGTGTATGTGTGTGTATGTGTGTATATGTGTGTATATGTGTGT GTACGTGTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTATGTGTGTAT GTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTAT GTGTGTGTATGTGTGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATAT GCGTGTGTATATATGCGTGTGTGTATGCGTGTGTATGCGTGTGTGTATGT GTGTGTATGTGTGTGTATATGCGTGTGTATGCGTGTGTATGCGTGTGTAT GGGTGTGTGTATGTGTGTGTATGTGTGTGTGTATATGTGTGTATATGTGT GTGTATATGTGTGTATGTGTGTATATGTGTGCGTATATGCGTGTGTATAT GCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATATGCGTGTGTATGTGT GTATGTGTGTGTATATGATGTGAGTGTATATGCGTGTGTATATGCGTGTG TATATGCGTGTGTGTGTGTATGCGTGTGTATATGTGTGTGTATATGTGTG TGTGCGTGTGTGTGCGCGTGTGTGTGCGTGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975252	T T	TAAATATA others(913): Show TAAATATATAAATATTTATATATTTATAAATATATAAATATATAAATATT TATATATTTATAAATATATAAATATATAAATATTTATATATTTATAGATA AATATATAAATATTTATATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATA TATATATTTATATATTTATATATAAATATATAAATATATAAATATTTATA GATAAATATATAAATATATAAATATTTATATATTTATATATAAATATATA AATATTTATATATTTATATATAAATATATAAATATTTATATATTTATCTA TAAATATATAAATATTTATATATTTATAGATAAATATATAAATATTTATA TATTTATAGATAAATATATAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	153	0.0065	920	c.130 others(939): Show c.1308+1324_1308+1325insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATAGAT AAATATATAAATATTTATATATTTATATATAAATATATAAATATTTATAT ATTTATATATAAATATATAAATATTTATATATTTATATATTTATCTATAA ATATTTATATATTTATATATTTATATATAAATATATAAATATATATATAT TTATATATTTATCTATAAATATATAAATATTTATATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATATAAATATTTATATATTTATCT ATAAATATATAAATATTTATATATTTATATATTTATAAATATATAAATAT TTATATATTTATATATTTATAAATATATAAATATTTATATATTT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975252	T T	TAAATATA others(913): Show TAAATATATAAATATTTATATATTTATAAATATATAAATATATAAATATT TATATATTTATAAATATATAAATATATAAATATTTATATATTTATAGATA AATATATAAATATTTATATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATT TATATATTTATAGATAAATATATAAATATATATATATTTATATATTTATA GATAAATATATAAATATATAAATATTTATAGATAAATATATAAATATATA AATATTTATATATTTATATATAAATATATAAATATTTATATATTTATCTA TAAATATATAAATATTTATATATTTATAGATAAATATATAAATATTTATA TATTTATAGATAAATATATAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG00642.hp2 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0147 a0001c0002t0003g0129 a0001c0001t0001g0147 a0001c0002t0003g0129	2	154	0.0130	920	c.130 others(939): Show c.1308+1324_1308+1325insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATAGAT AAATATATAAATATTTATATATTTATATATAAATATATAAATATTTATAT ATTTATATATTTATCTATAAATATTTATATATTTATATATTTATCTATAA ATATATAAATATATATATATTTATATATTTATCTATAAATATATAAATAT TTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATATAAATATTTATATATTTATCT ATAAATATATAAATATTTATATATTTATATATTTATAAATATATAAATAT TTATATATTTATATATTTATAAATATATAAATATTTATATATTT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
AHRR_chr5_316714_443285	344714	G G	GGTGTGTG others(913): Show GGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTG GGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTG GGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGT GAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGT GAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTG CGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGG GCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCT GTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGG TGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGG TGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGA GGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGA GGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCG CGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGC TGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGT GTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTG TGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTG TGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGG CTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGG CTGTGGGGGGCTGTGTGTGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0143 a0001c0001t0047g0143	1	94	0.0106	920	c.62+ others(933): Show c.62+761_62+762insTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTG TGTGTGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTG TGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGT GTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGT GTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTG TGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTG TGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGG GGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGT GTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTG TGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGT GTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGT GTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTG TGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTG GGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGG AGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGT GGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTG TGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGT GTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGT GTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP5S1_chr20_3815547_3833838	3818460	G G	GAGGCTGA others(913): Show GAGGCTGAAGTGGGAGGATCACTGGAGCCCAGGAGTTCAGGCTGCTGAGC TAGGATTGCACCACTTTGCTTGCTCCAGCCTGGGCAATAGAGCAAGACCC TGTCTGTAACAAAATAAGCAAAGCCCAGCTGTGGTGTGTAGGAAGCAGCA GCCTATGCAGCAGTACAGGTAGCAGTTAGGAAGCTGCCAATGGAGGTTTG GTGGAGACAGAAGATGGGAGAGCTGTCTGAGTGCCCAATGGGAGGCTCCC AACACAGAGTGCTGCTGTGTCTGAGAGGGTCCAGGGAGGTAGAAGAAAGG AAGAGACAGACATTGCCCGACTTTGGCCTCCTTTATTCTAGGGCAGCCAT AATCCACCGAATTTCAGTCCACCTTGATTTGCAGAAAAGCATATTCCCTT TTCTTCTTAGTTTCCTGCTTTGATCTTTGAGAAATGACTAAACACTCTTA TCAGAGAGGCATTAAAAAATCCACTGCTGGCTGGGCACAGTGGCTCACGC CTATAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCCCTTTAGTTC AGGAGTTTGAGACCAGCTGAGCAACACGGTGAAACCCCGTCTCTACAAAA AATACAAAAATTAGCCAGACGTAATGGCACGTGCCTGTGGTCCCAGCTAC TCTGCTCTGAAGGCTGAGGTGCAAAGTTGGCTCAAGCCCAGGAAACAGAG GTTGCAGTGAGCCAAAATCACGCCATTGCACTCCAGCGTGGGCGACAGAG CAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTCCCACTGCCT GGGGCTAGCAGATTCTACCTAATTGCTCTCCCCACATCCAGAAGTAGGTG GTTGCTGGTCTAGCTTGAAGTCTCAGTTTCTGTAAAGATCATCAATGTGG CTGGGTATGGTGGTAAGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0011 a0001c0001t0013g0011	1	404	0.0025	920	c.-23 others(931): Show c.-2315_-2314insAGGCTGAAGTGGGAGGATCACTGGAGCCCAGGAG TTCAGGCTGCTGAGCTAGGATTGCACCACTTTGCTTGCTCCAGCCTGGGC AATAGAGCAAGACCCTGTCTGTAACAAAATAAGCAAAGCCCAGCTGTGGT GTGTAGGAAGCAGCAGCCTATGCAGCAGTACAGGTAGCAGTTAGGAAGCT GCCAATGGAGGTTTGGTGGAGACAGAAGATGGGAGAGCTGTCTGAGTGCC CAATGGGAGGCTCCCAACACAGAGTGCTGCTGTGTCTGAGAGGGTCCAGG GAGGTAGAAGAAAGGAAGAGACAGACATTGCCCGACTTTGGCCTCCTTTA TTCTAGGGCAGCCATAATCCACCGAATTTCAGTCCACCTTGATTTGCAGA AAAGCATATTCCCTTTTCTTCTTAGTTTCCTGCTTTGATCTTTGAGAAAT GACTAAACACTCTTATCAGAGAGGCATTAAAAAATCCACTGCTGGCTGGG CACAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGAC AGATCCCTTTAGTTCAGGAGTTTGAGACCAGCTGAGCAACACGGTGAAAC CCCGTCTCTACAAAAAATACAAAAATTAGCCAGACGTAATGGCACGTGCC TGTGGTCCCAGCTACTCTGCTCTGAAGGCTGAGGTGCAAAGTTGGCTCAA GCCCAGGAAACAGAGGTTGCAGTGAGCCAAAATCACGCCATTGCACTCCA GCGTGGGCGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAA AAATTCCCACTGCCTGGGGCTAGCAGATTCTACCTAATTGCTCTCCCCAC ATCCAGAAGTAGGTGGTTGCTGGTCTAGCTTGAAGTCTCAGTTTCTGTAA AGATCATCAATGTGGCTGGGTATGGTGGTAAGTGCC	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2086		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3818460	G G	GAGGCTGA others(913): Show GAGGCTGAAGTGGGAGGATCACTGGAGCCCAGGAGTTCAGGCTGCTGAGC TAGGATTGCACCACTTTGCTTGCTCCAGCCTGGGCAATAGAGCAAGACCC TGTCTGTAACAAAATAAGCAAAGCCCAGCTGTGGTGTGTAGGAAGCAGCA GCCTATGCAGCAGTACAGGTAGCAGTTAGGAAGCTGCCAATGGAGGTTTG GTGGAGACAGAAGATGGGAGAGCTGTCTGAGTGCCCAATGGGAGGCTCCT AACACAGAGTGCTGCTGTGTCTGAGAGGGTCCAGGGAGGTAGAAGAAAGG AAGAGACAGACATTGCCCGACTTTGGCCTCCTTTATTCTAGGGCAGCCAT AATCCACCGAATTTCAGTCCACCTTGATTTGCAGAAAAGCATATTCCCTT TTCTTCTTAGTTTCCTGCTTTGATCTTTGAGAAATGACTAAACACTCTTA TCAGAGAGGCATTAAAAAATCCACTGCTGGCTGGGCACAGTGGCTCACGC CTATAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCCCTTTAGTTC AGGAGTTTGAGACCAGCTGAGCAACACGGTGAAACCCCGTCTCTACAAAA AATACAAAAATTAGCCAGACGTAATGGCACGTGCCTGTGGTCCCAGCTAC TCTGCTCTGAAGGCTGAGGTGCAAAGTTGGCTCAAGCCCAGGAAACAGAG GTTGCAGTGAGCCAAAATCACGCCATTGCACTCCAGCGTGGGCGACAGAG CAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTCCCACTGCCT GGGGCTAGCAGATTCTACCTAATTGCTCTCCCCACATCCAGAAGTAGGTG GTTGCTGGTCTAGCTTGAAGTCTCAGTTTCTGTAAAGATCATCAATGTGG CTGGGTATGGTGGTAAGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG03195.hp1 HG03486.hp1 others(1): Show HG02818.hp1 HG03195.hp1 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0028 a0001c0001t0030 others(1): Show a0001c0001t0019 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031	a0001c0001t0019g0010 a0001c0001t0028g0008 a0001c0001t0030g0008 others(1): Show a0001c0001t0019g0010 a0001c0001t0028g0008 a0001c0001t0030g0008 a0001c0001t0031g0010	4	407	0.0098	920	c.-23 others(931): Show c.-2315_-2314insAGGCTGAAGTGGGAGGATCACTGGAGCCCAGGAG TTCAGGCTGCTGAGCTAGGATTGCACCACTTTGCTTGCTCCAGCCTGGGC AATAGAGCAAGACCCTGTCTGTAACAAAATAAGCAAAGCCCAGCTGTGGT GTGTAGGAAGCAGCAGCCTATGCAGCAGTACAGGTAGCAGTTAGGAAGCT GCCAATGGAGGTTTGGTGGAGACAGAAGATGGGAGAGCTGTCTGAGTGCC CAATGGGAGGCTCCTAACACAGAGTGCTGCTGTGTCTGAGAGGGTCCAGG GAGGTAGAAGAAAGGAAGAGACAGACATTGCCCGACTTTGGCCTCCTTTA TTCTAGGGCAGCCATAATCCACCGAATTTCAGTCCACCTTGATTTGCAGA AAAGCATATTCCCTTTTCTTCTTAGTTTCCTGCTTTGATCTTTGAGAAAT GACTAAACACTCTTATCAGAGAGGCATTAAAAAATCCACTGCTGGCTGGG CACAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGAC AGATCCCTTTAGTTCAGGAGTTTGAGACCAGCTGAGCAACACGGTGAAAC CCCGTCTCTACAAAAAATACAAAAATTAGCCAGACGTAATGGCACGTGCC TGTGGTCCCAGCTACTCTGCTCTGAAGGCTGAGGTGCAAAGTTGGCTCAA GCCCAGGAAACAGAGGTTGCAGTGAGCCAAAATCACGCCATTGCACTCCA GCGTGGGCGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAA AAATTCCCACTGCCTGGGGCTAGCAGATTCTACCTAATTGCTCTCCCCAC ATCCAGAAGTAGGTGGTTGCTGGTCTAGCTTGAAGTCTCAGTTTCTGTAA AGATCATCAATGTGGCTGGGTATGGTGGTAAGTGCC	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2086		chr20	TogoVar
ATG2B_chr14_96274195_96368341	96340103	A A	AATATATG others(913): Show AATATATGATATATATGAATATATATATCATATATGATATATATGAATAT ATATATCATATATGATATATATGAATATATATATCATATATGATATATAT GAATATATATATCATATATGATATATATGAATATATATATCATATATGAT ATATATGAATATATATATCATATATGATATATATGAATATATATATCATA TATGATATATATGAATATATATATCATATATGATATATATGAATATATAT ATCATATATGATATATATGAATATATATATCATATATGATATATATGAAT ATATATATCATATATGATATATATGAATATATATATCATATATGATATAT ATGAATATATATATCATATATGATATATATGAATATATATATCATATATG ATATATATGAATATATATATCATATATGATATATATGAATATATATATCA TATATGATATATATGAATATATATATCATATATGATATATATGAATATAT ATATCATATATGATATATATGAATATATATATCATATATGATATATATGA ATATATATATCATATATGATATATATGAATATATATATCATATATGATAT ATATGAATATATATATCATATATGATATATATGAATATATATATCATATA TGATATATATGAATATATATATCATATATGATATATATGAATATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATGAATAT ATATATCATATATGATATATATGAATATATATATCATATATGATATATAT GAATATATATATCATATATGATATATATGAATATATATATCATATATGAT ATATATGAATATATATCATATATGATATATATGAATATATATATCATATA TGATATATATGAATATATATC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0238 a0001c0003t0023g0238	1	28	0.0357	920	c.924 others(937): Show c.924+1418_924+1419insGATATATATTCATATATATCATATATGA TATATATATTCATATATATCATATATGATATATATTCATATATATCATAT ATGATATATATATTCATATATATCATATATGATATATATATTCATATATA TCATATATGATATATATATTCATATATATCATATATGATATATATATTCA TATATATCATATATGATATATATATTCATATATATCATATATGATATATA TATTCATATATATCATATATGATATATATATTCATATATATCATATATGA TATATATATTCATATATATCATATATGATATATATATTCATATATATCAT ATATGATATATATATTCATATATATCATATATGATATATATATTCATATA TATCATATATGATATATATATTCATATATATCATATATGATATATATATT CATATATATCATATATGATATATATATTCATATATATCATATATGATATA TATATTCATATATATCATATATGATATATATATTCATATATATCATATAT GATATATATATTCATATATATCATATATGATATATATATTCATATATATC ATATATGATATATATATTCATATATATCATATATGATATATATATTCATA TATATCATATATGATATATATATTCATATATATCATATATGATATATATA TTCATATATATCATATATGATATATATATTCATATATATCATATATGATA TATATATTCATATATATCATATATGATATATATATTCATATATATCATAT ATGATATATATATTCATATATATCATATATGATATATATATTCATATATA TCATATATGATATATATATTCATATATATCATATATGATATATATATTCA TATATATCATATATGATATATATATTCATATATATCATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
CAMK2B_chr7_44212154_44330594	44254776	T T	TACCATCA others(913): Show TACCATCATCACCAACCACCATCACCATCACCACCACCATCACCACCAAC CACCATCACCATCACCACCACCATCACCACCAACCACCATCACCATCACC ACCACCATCACCACCAACCAACATCACCATCACCACCACCATCACCACCA ACCACCATCACCATCACCACCACCATCACCACCAACCAACATCACCATCA CCACCACCATCACCACCAACCAACATCACCATCACCACCACCATCACCAC CAACCAACATCACCATCACCACCACCATCACCACCACCCAACATCACCAT CACCACCACCATCACCACCAACCAACATCACCATCACCACCACCATCACC ACCAACCAACATCACCATCACCACCACCATCACCACCAACCAACATCACC ATCACCACCACCACCATCACCACCAACCAACATCACCATCACCACCACCA TCACCACCAACCGACATCACCACCACTACCACCATCACCAGCATCATCAC CACCATCACCACCACCACGACCATCACCACCAACCAACATCACCATCACC ACCACCATCACCACCAACCAACATCACCATCACCACCACCATCACCACCA ACCATCACCATCACCACCACCATCACCACCAACCGACATCACCACCACTA CCACCATCACCAGCATCATCACCACCATCACCACCACCACCACCATCACC AACATCACCACCACCATTACCATCACCACCACCACCACCACCACCACCAT CATCACCATCACCATCATTACCACCATGACCATCACCAACACCACTACCA CCATCACTACCACCATCACCATCACCAACACCACCACCATCACCACCATC ACCATCACTGCCACCACCATCATCACTATCACCATCACCACCATCACACC ATTACCATTATCATCACCACC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG04184.hp1 HG03688.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0039 a0001c0003t0002g0040	2	155	0.0129	920	c.276 others(935): Show c.276-170_276-169insGGTGGTGATGATAATGGTAATGGTGTGATG GTGGTGATGGTGATAGTGATGATGGTGGTGGCAGTGATGGTGATGGTGGT GATGGTGGTGGTGTTGGTGATGGTGATGGTGGTAGTGATGGTGGTAGTGG TGTTGGTGATGGTCATGGTGGTAATGATGGTGATGGTGATGATGGTGGTG GTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGTTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGATGATGCTGGTGATGGTGGTAGTGGTGG TGATGTCGGTTGGTGGTGATGGTGGTGGTGATGGTGATGGTTGGTGGTGA TGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGT GATGTTGGTTGGTGGTGATGGTCGTGGTGGTGGTGATGGTGGTGATGATG CTGGTGATGGTGGTAGTGGTGGTGATGTCGGTTGGTGGTGATGGTGGTGG TGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGGTGATGGTGATGTT GGTTGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGT GGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGATG TTGGGTGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATG GTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGA TGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTTGGTGGTGA TGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGT GATGGTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTTGGTGGT GATGGTGGTGGTGATGGTGATGGTGGTTGGTGATGATGGT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	4/23			chr7	TogoVar
CCDC6_chr10_59783747_59911556	59882297	A A	AAGGAAAG others(913): Show AAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCG GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGA GAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGA AAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAA AGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCC GGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGG AGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGG AAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAG GAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAA GCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCG CGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGG GAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGA AGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAA GGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAA AGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAG GGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAG AAGGAAAGGAAAGCCGGGGAG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	273	0.0037	920	c.303 others(939): Show c.303+23824_303+23825insCTCCCCGGCTTTCCTTTCCTTCTCCC CGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCTGGC TTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCT TTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCC TTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCC CCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCT TTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTC CTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTC TCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGC CGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTT CTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCG CCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTT TCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCT TCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCT	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(913): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACATACT ATGTATATCATGTAGTATGTATACTACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	348	0.0029	920	c.51+ others(935): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACT ACATGATATACATAGTAGTATACATACTACATGATATACATAGTATGTAG TATACATACTACATGATATACATAGTATGTAGTATACATACTACATGATA TACATAGTATGTAGTATACATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(913): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01943.hp1 HG02004.hp2 others(2): Show HG00558.hp1 HG01943.hp1 HG02004.hp2 HG04228.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	5	352	0.0142	920	c.51+ others(935): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACT ACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTAG TATACATACTACATGATATACATAGTATGTAGTATACATACTACATGATA TACATAGTATGTAGTATACATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(913): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	348	0.0029	920	c.51+ others(935): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACT ACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTAGTATACATACTACATGATA TACATAGTATGTAGTATACATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CRLF2_chrX_1185490_1217649	1198339	C C	CCCAGGAA others(913): Show CCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACAC CCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAA GGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCAC CTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTAGAAGGCAGGACACCC TCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGG AAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCC ACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTAGAAGGCAGGACAC CCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCA GGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTC CCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTAGAAGGCAGGAC ACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCG AAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCC TCCCACCTCCTAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGG CAGGACACCCTCCCTCCCACCTCGAAGGCAGGACAGCCTCCCTCCCACCT CCCGGGAAGATAGGACACCCTCCCTCCCACCTCCCGGGAAGACAGGACAC CCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAA GGCAGGACACCCTCCCTCCCACCTCCTAGGAAGGCAGGACACCCTCCCTC CCACCTCCCAGGAACGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGAC AGCCTCCCTCCCACCTCCCGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0071 a0002c0004t0001g0071	1	85	0.0118	920	c.646 others(935): Show c.646+222_646+223insCCGGGAGGTGGGAGGGAGGCTGTCCTGCCT TCGAGGTGGGAGGGAGGGTGTCCTGCGTTCCTGGGAGGTGGGAGGGAGGG TGTCCTGCCTTCCTAGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGA GGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGT CTTCCCGGGAGGTGGGAGGGAGGGTGTCCTATCTTCCCGGGAGGTGGGAG GGAGGCTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGG GAGGTGGGAGGGAGGGTGTCCTGCCTTCCTAGGAGGTGGGAGGGAGGGTG TCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGG AGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCT TCTAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGG TGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTG GGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGC CTTCTAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAG GGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGG TGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCT GCCTTCTAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGG AGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGA GGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGC CTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CYP4F11_chr19_15907377_15939529	15933341	T T	TGGGCAGA others(913): Show TGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAG CGGGCAGAGAAATGAGTGAGTGGGCAGAGGAATGAGTGAGTGGGCAGAGG AATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAG TGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAG CGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAG CGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0072 a0001c0004t0072	a0001c0004t0072g0025 a0001c0004t0072g0025	1	181	0.0055	920	c.198 others(935): Show c.198+869_198+870insGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCAT TCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCAT TCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCACTCACTCAT TCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCC ACTCACTCATTCCTCTGCCCACTCACTCATTTCTCTGCCCGCTCACTCAT TCCTCTGCCCACTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCTC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCAT TCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTGCCCACTCACTCATTCCTCTGCCCGCTCACTCAT TCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCC GCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933405	G G	GAGAGGAA others(913): Show GAGAGGAATGAGTGAGCGGGGGAGAGGAATGAGTGAGCGGGGAGAGGATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGAGGAGAGGAGTGAGTGAGCGAGGAGAGGAGTGAGTGAGCGAG CAGAGGAGTGAGTGAGCGAGCAGAGGAATGAGTGAGCGAGAAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGAGGAGAGGAGTGAGTGAGCGAGGAGAGGAGTG AGTGAGCGAGCAGAGGAGTGAGTGAGCGAGCAGAGGAGTGAGTGAGCGAG AAGAGGAATGAGTGAGCGGGC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0148 a0002c0001t0148	a0002c0001t0148g0306 a0002c0001t0148g0306	1	340	0.0029	920	c.198 others(935): Show c.198+805_198+806insGCCCGCTCACTCATTCCTCTTCTCGCTCAC TCACTCCTCTGCTCGCTCACTCACTCCTCTGCTCGCTCACTCACTCCTCT CCTCGCTCACTCACTCCTCTCCTCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT TCTCGCTCACTCATTCCTCTGCTCGCTCACTCACTCCTCTGCTCGCTCAC TCACTCCTCTCCTCGCTCACTCACTCCTCTCCTCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATCCTCTC CCCGCTCACTCATTCCTCTCCCCCGCTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(913): Show CCACACCATTCCACACCATGCCACACACCACACACACACTCCACACCAAA CCACACACAACCACTCCACACACACATCACACACCACACACCACTCCACA CACACACACACACCACACACACATCACACACACCATTCCACCACACAACA CACCACACATCACTCCACAAAACACCACACACACCATGCCACACCACTCC ACACACAGCACACCACTCCACACACACCACACACCACTCCACACGCCACA GCACACCACACATCACACCACACACTACCACACCACACACCACTCCACAC CACATACCACTCCACACCAAAACATACCACACCACGCCACACCACTCCAC ACAACGTGCCACACACCAGCCCACACCAAACCACACACCACACACCACAC ATCACTCCACACCCCAAACACACCACACACCACTCCACACACACCACACA CCACTCCACACCAAACCACACCACTCCACACCAAACCACACCATGACACA CCAAACCACACCACACACATCACACCACACCACACCATGCCATATGACTC CACACACCAGACCACACCACATACCACTCCACACCACACCCCACTCCACA CACCATGCCACACACACTACACCACACACACCACACACACCAAACCACAC CACACCACACCACTCCACACACTTCACACCAAACCACACACCCCACCACA CACACTCCACACCAAACCACATCACACCACACCACTCCACACCATACACA TCACATACCACACCACACACTGCTCCACACAACACATCGCACCACTCCAC ACCAAACCACACACCATGCCACACCACTCCATATGACACACACCACGGCA CACACCACATACCACACTCCACACCAAACCACACCACACCATATACCACA CCACACCACACACCACCACTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0059 a0001c0004t0002g0059	1	10	0.1000	920	c.310 others(935): Show c.310-949_310-948insAAGTGGTGGTGTGTGGTGTGGTGTGGTATA TGGTGTGGTGTGGTTTGGTGTGGAGTGTGGTATGTGGTGTGTGCCGTGGT GTGTGTCATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGG TGCGATGTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGTGATGTGTATGG TGTGGAGTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGG GTGTGTGGTTTGGTGTGAAGTGTGTGGAGTGGTGTGGTGTGGTGTGGTTT GGTGTGTGTGGTGTGTGTGGTGTAGTGTGTGTGGCATGGTGTGTGGAGTG GGGTGTGGTGTGGAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATAT GGCATGGTGTGGTGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGTCATG GTGTGGTTTGGTGTGGAGTGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTG TGTGTGGAGTGGTGTGTGGTGTGTTTGGGGTGTGGAGTGATGTGTGGTGT GTGGTGTGTGGTTTGGTGTGGGCTGGTGTGTGGCACGTTGTGTGGAGTGG TGTGGCGTGGTGTGGTATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGT GGTGTGTGGTGTGGTAGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTG TGGAGTGGTGTGTGGTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTG TGGCATGGTGTGTGTGGTGTTTTGTGGAGTGATGTGTGGTGTGTTGTGTG GTGGAATGGTGTGTGTGATGTGTGTGTGGTGTGTGTGTGTGTGTGGAGTG GTGTGTGGTGTGTGATGTGTGTGTGGAGTGGTTGTGTGTGGTTTGGTGTG GAGTGTGTGTGTGGTGTGTGGCATGGTGTGGAATGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GPIHBP1_chr8_143208218_143222170	143218085	C C	CCCCCACA others(913): Show CCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCC CAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAA CACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACC ACCCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCAACACCAT CCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCATCCC CAACACCACCCCAACACCACCCCAACACCACCCCAACACCACCCCCAACA CCACCCCCAACACCACCCCCAACACCACCCCAACACCATCCCCAACACCA CCCCAACACCACCCCCCACACCACCCCCAACACCACCCCAACACCACCCC CAACACCACCCCCAACACCACCGCCAACACCACCCCAACACCACCCCAAC ACCATCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACACC ACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACC CCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCA ACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCAAC ACCATCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACC ATCCCCAACACCACCCCAACACCACCCCAACACCACCCCAACACCACCCC CAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCAAC ACCACCCCCCACACCACCCCCAACACCACCCCAACACCACCCCCAACACC ACCCCCAACACCACCGCCAACACCACCCCAACACCACCCCAACACCATCC CCAACACCATCCCCAACACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0004	1	94	0.0106	920	c.25 others(931): Show c.2567_*2568insCCCCACACCACCCCCAACACCACCCCCAACACCA CCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCC CAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAA CACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACAC CATCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCCAACACCA CCCCAACACCATCCCCAACACCACCCCAACACCACCCCAACACCACCCCA ACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACA CCATCCCCAACACCACCCCAACACCACCCCCCACACCACCCCCAACACCA CCCCAACACCACCCCCAACACCACCCCCAACACCACCGCCAACACCACCC CAACACCACCCCAACACCATCCCCAACACCACCCCAACACCACCCCCAAC ACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACC ACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACC CCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCC AACACCATCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCCAA CACCACCCCAACACCATCCCCAACACCACCCCAACACCACCCCAACACCA CCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCC CAACACCACCCCAACACCACCCCCCACACCACCCCCAACACCACCCCAAC ACCACCCCCAACACCACCCCCAACACCACCGCCAACACCACCCCAACACC ACCCCAACACCATCCCCAACACCATCCCCAACACCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		916		chr8	TogoVar
GRAMD4_chr22_46615386_46684785	46635194	C C	CCCCCACC others(913): Show CCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCC CACCCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACC CCTGGCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCGCCCCCA GCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCA CTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCC TGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTC CTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGG GGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCTTGGGGAG CCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGT GTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCC TCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCC TGCCTCCACCCCTGGCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCC CCCGCCCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCG ACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCC TGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCCGGC CACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCGACCCCGGCCACT CCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTG TCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTGTCCT GGGGAACCGTGTCCTGCCTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02273.hp2 HG02293.hp1 HG00099.hp1 HG02273.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299	3	317	0.0095	920	c.163 others(937): Show c.163-2642_163-2641insACCCCTGGCCACTCCTGTCCTGGGGAAC CGTGTCCTCCCTGCCCCCACCCCCAGCCACTCCTGTCCTGGGGAACCGTG TCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCTTGGGGAGCCGTGTCCT CCCTGCCCCCGCCCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCT GCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCT CCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCAC CCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCT GGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCC ACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCACCCCTGGCCACTC CTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGT CCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTG GGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCTTGGGGA GCCGTGTCCTCCCTGCCCCCGCCCCCAGCCACTCCTGTCCTGGGGAACCG TGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTC CTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCC CTGCCTCCACCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGC CCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCC ACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACC CCGGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTGTCCCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GTPBP6_chrX_299759_323796	316000	G G	GACACACA others(913): Show GACACACACACACACACACACACACACACACAGTAAATACATCCCGACAG GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC AGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACACA TACACACGCAGACACACACACACACACACAAACACACAGTAAATACATCC CGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACACAC ACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCA GACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGAC ACAGACACACACACAGAGACACACACAAACACAGTAAACACATGCTGGCA GGGACACAAACACATACACACGCAGACACACACACACACACACAAACACA CAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACAC ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA CACATACACACGCAGACACACACACACACACACACACAGTAAATACATCC CGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTA AACACATGCTGGCAGGGACACAAACACATACACACGCAGACACACACACA CACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACAC ACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACA AACACATACACACGCAGACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0095 a0002c0005t0001g0095	1	78	0.0128	920	c.488 others(935): Show c.488-702_488-701insGTGTCTGCGTGTGTATGTGTTTGTGTTCCT GCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTG TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT GTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTT TGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATT TACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC CTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTG TGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGT GTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCAT GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCC TGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGT ATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTC TGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATT TACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT GTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG TCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGT GTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTAC TGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGA TGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
HSD17B14_chr19_48808018_48841491	48835044	G G	GGCCTGGA others(913): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGG TCTGAGGAAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTG GACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAG GAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTG GGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAA GTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGA GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTG GGTCTGAGGAAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCC TGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0357 a0002c0003t0001g0357	1	361	0.0028	920	c.128 others(935): Show c.128-687_128-686insTCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAG GCCCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCA GACCCAGGAGTCCAGGCTCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCC AGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCC TTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCAGA CCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGG CTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTC CTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCAGACCC AGGAGTCCAGACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCC CCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTC CCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGG AGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCC AGGCCCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGCCCCTCCTCCCT CAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTTCCTCAGACCCAGGAGT CCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGC CCTTCCTCCCTCAGACCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCAG ACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA GGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGC	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(913): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGTATATATGGAACATATATACATATATGTAT ATATGGAACATATATACATATATGGAACCAATACATACATGGAACATATA TATGTGGAACCAATACATACATGGAACATATATATGTGGAACCAATACAT ACATGGAACATATATATGTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGA ACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAA CATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCA ATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATCTGGAACCAATAC ATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATATGCAACATATATATGTGGAACCAATACATATATGC AACATATATATGTGGAACCAATACATATATGCAACATATATATGTGGAAC CAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0225 a0002c0002t0002g0225	1	204	0.0049	920	c.-36 others(931): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGGAACCAATACA TACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATAT GTGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATCTGGAACCAATACATATACGGAACATATATATCTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACG GAACATATATATGTGGAACCAATACATATATGCAACATATATATGTGGAA CCAATACATATATGCAACATATATATGTGGAACCAATACATATATGCAAC ATATATATGTGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(913): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGTATATATGGAACATATATACATATATGTAT ATATGGAACATATATACATATATGGAACCAATACATACATGGAACATATA TATGTGGAACCAATACATACATGGAACATATATATGTGGAACCAATACAT ACATGGAACATATATATGTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGA ACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAA CATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCA ATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATATA TCTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATATGC AACATATATATGTGGAACCAATACATATATGCAACATATATATGTGGAAC CAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0189 a0002c0002t0002g0189	1	204	0.0049	920	c.-36 others(931): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGGAACCAATACA TACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATAT GTGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATCTGGAACCAATACATA TACGGAACATATATATCTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACG GAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAA CCAATACATATATGCAACATATATATGTGGAACCAATACATATATGCAAC ATATATATGTGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
KIRREL3_chr11_126418358_127005770	126632686	G G	GCCACAAG others(913): Show GCCACAAGCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGC AGCCCTGGGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACA TGGGTGAGAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGT AAAGCCTGCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGG GAGATAAAAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCT AATATGCAGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAG AAGAAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAA CGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTTATGCA GCTCAGATGCCCACTCCATGACAGGTATGAGCTGACCTGGGCATGCATTC TCTGCAGGGAGACAATTACTGTTGCTGTGTGTGACAGGGTTGATACATCC TGCTGAAGGTAGGCATCTCTGTGTTTCCTTATTTTGTAATCCTTTCAAGC CTTCTGAATCCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGACAAGCCTGC TACTCAGTGGAACCCCTCGTTTCTACCCCCAGGTGGTCTAGGCACTGAGG CTACAGAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCG TTCCTTCCTTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCC TCCTTCCTTTCCTTCCTTTCCCTTCCTTTCCTTTCTTTTTCTTCTTCTTT TCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp2 HG01433.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0002 a0001c0001t0007 a0001c0002t0002	a0001c0001t0007g0080 a0001c0002t0002g0085 a0001c0001t0007g0080 a0001c0002t0002g0085	2	17	0.1176	920	c.56- others(937): Show c.56-69775_56-69774insGGAGAGAGAGAGAGAGAGAGAAAAGAAG AAGAAAAAGAAAGGAAAGGAAGGGAAAGGAAGGAAAGGAAGGAGGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTAGC GGCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTCTGTAGCCTCAGT GCCTAGACCACCTGGGGGTAGAAACGAGGGGTTCCACTGAGTAGCAGGCT TGTCCAGAACTGGACAGCTGGAGACAGAGGCTGGATTCAGAAGGCTTGAA AGGATTACAAAATAAGGAAACACAGAGATGCCTACCTTCAGCAGGATGTA TCAACCCTGTCACACACAGCAACAGTAATTGTCTCCCTGCAGAGAATGCA TGCCCAGGTCAGCTCATACCTGTCATGGAGTGGGCATCTGAGCTGCATAA GGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTC CTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC TTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCT CTCTCTCTCTCTCTCTCCCCACAAGCCTCCTCCACTGCATATTAGCCACT GCTGTAACAAGTATACTAATGTCTCCTCATCAATTTTTATCTCCCAATGC CCAGTATGCAGCAACGATATGAACAAGAGTTCAGGCAGGCTTTACAGGAT TCCCACCAGGTTGGGTGGGAGGTGCGGACATGCTTCTCACCCATGTTTTC TGGCATTCGCAGTCCCTCACTCAATTGCCCCCTCCCCAGGGCTGCTCTTG GGCAGGACAGAAAAGCAGCTGCACAGGGAAGGAGGCTTGTGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126632686	G G	GCCACAAG others(913): Show GCCACAAGCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGC AGCCCTGGGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACA TGGGTGAGAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGT AAAGCCTGCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGG GAGATAAAAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCT AATATGCAGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAG AAGAAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAA GGAACGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTTA TGCAGCTCAGATGCCCACTCCATGACAGGTATGAGCTGACCTGGGCATGC ATTCTCTGCAGGGAGACAATTACTGTTGCTGTGTGTGACAGGGTTGATAC ATCCTGCTGAAGGTAGGCATCTCTGTGTTTCCTTATTTTGTAATCCTTTC AAGCCTTCTGAATCCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGACAAGC CTGCTACTCAGTGGAACCCCTCGTTTCTACCCCCAGGTGGTCTAGGCACT GAGGCTACAGAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCT ACCGTTCCTTCCTTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCC TCCTTCCTTTCCTTCCTTTCCCTTCCTTTCCTTTCTTTTTCTTCTTCTTT TCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01123.hp1 HG01192.hp2 others(6): Show HG00140.hp2 HG01123.hp1 HG01192.hp2 HG01517.hp1 HG01978.hp2 HG02040.hp2 NA18984.hp2 NA19070.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0001t0043 a0001c0002t0003 a0001c0002t0036 a0001c0003t0006	a0001c0001t0002g0090 a0001c0001t0005g0011 a0001c0001t0005g0015 others(6): Show a0001c0001t0002g0090 a0001c0001t0005g0011 a0001c0001t0005g0015 a0001c0001t0017g0069 a0001c0001t0043g0109 a0001c0002t0003g0114 a0001c0002t0036g0079 a0001c0003t0006g0014 a0001c0003t0006g0022	9	24	0.3750	920	c.56- others(937): Show c.56-69775_56-69774insGGAGAGAGAGAGAGAGAGAGAAAAGAAG AAGAAAAAGAAAGGAAAGGAAGGGAAAGGAAGGAAAGGAAGGAGGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCGGCT ATCCAAGGTGCGGACAACAGCCCTTATAGCCCTCTGTAGCCTCAGTGCCT AGACCACCTGGGGGTAGAAACGAGGGGTTCCACTGAGTAGCAGGCTTGTC CAGAACTGGACAGCTGGAGACAGAGGCTGGATTCAGAAGGCTTGAAAGGA TTACAAAATAAGGAAACACAGAGATGCCTACCTTCAGCAGGATGTATCAA CCCTGTCACACACAGCAACAGTAATTGTCTCCCTGCAGAGAATGCATGCC CAGGTCAGCTCATACCTGTCATGGAGTGGGCATCTGAGCTGCATAAGGGC TATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTCCTTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC TTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCT CTCTCTCTCTCTCTCTCCCCACAAGCCTCCTCCACTGCATATTAGCCACT GCTGTAACAAGTATACTAATGTCTCCTCATCAATTTTTATCTCCCAATGC CCAGTATGCAGCAACGATATGAACAAGAGTTCAGGCAGGCTTTACAGGAT TCCCACCAGGTTGGGTGGGAGGTGCGGACATGCTTCTCACCCATGTTTTC TGGCATTCGCAGTCCCTCACTCAATTGCCCCCTCCCCAGGGCTGCTCTTG GGCAGGACAGAAAAGCAGCTGCACAGGGAAGGAGGCTTGTGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
LAMA5_chr20_62304065_62372312	62349826	T T	TGGCGGTG others(913): Show TGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGA TGGTAGAGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTG ATGATGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTGAGGGT GATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTAATGACGGTGG GGTGGGGGTAATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGG TGATGACGGTGATGGTGGGGGTGATGACGATGATGGCGGTGGGGGTGATG ACGGTGGGGGTGGGGGTGATGACGATGATGGTGGGGGTGATGACGGTGAT GGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGG GGGTGATGACGGTGATGGTGGGGGTGATGACGATGATGGCGGTGGGGGTG ATGACGGTGGGGGTGGGGGTGATGACGATGATGGTGGGGGTGATGACGGT GATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGG TGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTG ATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGT GGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAG AGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGGGGGTG ATGATGGTGATGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGT GATGGTGGGGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0139 a0002c0003t0001g0139	1	146	0.0068	920	c.956 others(937): Show c.956+1877_956+1878insCCCACCCCCACCCCCACCATCACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTCTACCAT CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCACCGCCATCACCGTCA TCACCCCCACCATCATCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCGCCATCATCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCC CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCGCCATCACCG TCATCACCCCCACCATCATCGTCATCACCCCCACCCCCACCGTCATCACC CCCACCGCCATCATCGTCATCACCCCCACCATCACCGTCATCACCCCCAC CCCCACCGTCATCACCCCCACCCCCACCGTCATTACCCCCACCCCACCGT CATTACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCA CCATCATCACCCCCACCATCACCATCATCACCCCCACCATCATCACCCTC ACCCCCACCCCCACCCCCACCCCCACCATCATCACCTCTACCATCACCGT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCGCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(913): Show TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATATCCATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATCCATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATCCATATATATATCCA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATATCCA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATCCATATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0250 a0002c0002t0002g0250	1	207	0.0048	920	c.126 others(937): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATGGATAT ATATATATATGGATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATGGATAT ATATATGGATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATGGATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATGGATATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATATATGGATATATATATATATGGATAT ATATATATATGGATATATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATGGATATATATATATATGGATATATATATAT ATGGATATATATATATATGGATATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(913): Show ATATATTTATATATATTTATATATATATTTATATATATATTTATATATAT ATTATTTATATATATATTTATATATATATTTATATATATATTTATATATA TATTATTTATATATATATTTATATATATTTATATATATTTATATATATTT ATATATATTTATATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATATTTATATATATTTATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATATAT TTTTATATATATTTATATATATTTTTATATATAGTTATATATATTTATAT ATAGTTATATATATTTATGTATAGTTATATATATTTATGTATAGTTATAT ATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATATATATAGTT ATATATATATATTTTTATATATATAGTTATATATATATATTTTTATATAT ATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTT ATATATATAGTTATATATATATATTTTTATATATATAGTTATATATATAT TTATATATATAGTTATATATTTATATATATTTATATATATTTATATATAT ATTTATATATTTATTTATATATATTTATATATGTATTTATATATATTTAT ATATATTTATATGTATTTATATATATTTATATATATTTATATATATATAT ATAAATATATTTATATATATATAAATATAAATATTTATATATATTTATAT ATATTTATATATATATTTATGTATATTTATATATATTTATATATATATTT ATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	80	0.0125	920	c.125 others(937): Show c.125+9673_125+9674insATTTATATATATTTATATATATATTTAT ATATATATTTATATATATATTATTTATATATATATTTATATATATATTTA TATATATATTTATATATATATTATTTATATATATATTTATATATATTTAT ATATATTTATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATATTTATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATTTAT ATATATATTTATATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATATATTTTTATATATATTTATATATATTTTTATATAT AGTTATATATATTTATATATAGTTATATATATTTATGTATAGTTATATAT ATTTATGTATAGTTATATATAGTTATGTATAGTTATATATATAGTTATGT ATAGTTATATATATAGTTATATATATATATTTTTATATATATAGTTATAT ATATATATTTTTATATATATAGTTATATATATATATTTTTATATATATAG TTATATATATATATTTTTATATATATAGTTATATATATATATTTTTATAT ATATAGTTATATATATATTTATATATATAGTTATATATTTATATATATTT ATATATATTTATATATATATTTATATATTTATTTATATATATTTATATAT GTATTTATATATATTTATATATATTTATATGTATTTATATATATTTATAT ATATTTATATATATATATATAAATATATTTATATATATATAAATATAAAT ATTTATATATATTTATATATATTTATATATATATTTATGTATATTTATAT ATATTTATATATATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088837	G G	GCAGGATC others(913): Show GCAGGATCTGTGCAGAGCGGCCAGGATCTGTGCAGAGTGGCCAGGATCTG TGCAGGGAAGGCAGGATCTGTGCAGAGTGGCCAGGATCCGTGCAGAGTGG CCAGGATCCGTGCAGGGAGGCCATGATCTGTGCAGGGAGGGCAGGGTCTG TGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGG CCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTG TGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGGTCTGTGCAGAGTGG CCAGGGTCTTGGCAGGGTGGCCAGGATCTGTGCAGAGTGGGCAGGATCTG TGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGGTCTGTGCAGGGAGG GCAGGATCTGTGCAGAGTGGCCAGGATCCGTGCAGAGTGGCCAGGATCCG TGCAGGGAGGCCATGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGG CCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTG TGCAAGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGGAGG CCAGGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTG TGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGG CCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTG TGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGG CCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGGTCTG TGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGG CCAGGATCTGTGCAGAGTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	86	0.0116	920	c.-46 others(931): Show c.-4619_-4618insGCCACTCTGCACAGATCCTGGCCTCCCTGCACAG ATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGACCCTGCCCT CCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCTCCCTGCACAG ATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCT CCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAG ATCCTGGCCACTCTGCACAGATCCTGCCCTCCCTGCACAGATCCTGGCCA CTCTTCACAGATCCTGGCCACTCTGCACAGATCCTGGCCTCCTTGCACAG ATCCTGGCCACTCTGCACAGATCCTGGCCTCCTTGCACAGATCCTGGCCA CTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAG ACCCTGCCCTCCCTGCACAGATCATGGCCTCCCTGCACGGATCCTGGCCA CTCTGCACGGATCCTGGCCACTCTGCACAGATCCTGCCCTCCCTGCACAG ACCCTGGCCACTCTGCACAGATCCTGCCCTCCCTGCACAGATCCTGCCCA CTCTGCACAGATCCTGGCCACCCTGCCAAGACCCTGGCCACTCTGCACAG ACCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGCCCT CCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAG ATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGACCCTGCCCT CCCTGCACAGATCATGGCCTCCCTGCACGGATCCTGGCCACTCTGCACGG ATCCTGGCCACTCTGCACAGATCCTGCCTTCCCTGCACAGATCCTGGCCA CTCTGCACAGATCCTGGCCGCTCTGCACAGATCCTG	LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding		4440		chr20	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088857	G G	GCAGGATC others(913): Show GCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTA TGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGGTCTTTGCAGGGTGG CCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTG TGAAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGG CCAGGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTG TGCAGGGAGGGTAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGG CCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGCGGCCAGGATCTG TGCAGAGTGGCCAGGATCTGTGCAGGGAAGGCAGGATCTGTGCAGAGTGG CCAGGATCCGTGCAGAGTGGCCAGGATCCGTGCAGGGAGGCCATGATCTG TGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGG CCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGGAGGTCAGGATCTG TGCAGAGTGGCCAGGATCTGTGCAAGGAGGCCAGGATCTGTGCAGAGTGG CCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTG TGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGG CCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTG TGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGG CCAGGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTG TGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGG CCAGGATCTGTGCAGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 NA18999.hp1 NA19007.hp1 others(1): Show HG01934.hp1 NA18999.hp1 NA19007.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	69	0.0580	920	c.-46 others(931): Show c.-4639_-4638insGCCTCCCTGCACAGATCCTGGCCACTCTGCACAG ATCCTGGCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCA CTCTGCACAGACCCTGCCCTCCCTGCACAGATCCTGGCCACTCTGCACAG ATCCTGGCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCA CTCTGCACAGATCCTGGCCTCCCTGCACAGATCCTGGCCACTCTGCACAG ATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGCCCT CCCTGCACAGATCCTGGCCACTCTTCACAGATCCTGGCCACTCTGCACAG ATCCTGGCCTCCTTGCACAGATCCTGGCCACTCTGCACAGATCCTGACCT CCTTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAG ATCCTGGCCACTCTGCACAGACCCTGCCCTCCCTGCACAGATCATGGCCT CCCTGCACGGATCCTGGCCACTCTGCACGGATCCTGGCCACTCTGCACAG ATCCTGCCTTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCG CTCTGCACAGATCCTGCCCTCCCTGCACAGATCCTGGCCACTCTGCACAG ATCCTGGCCACTCTGCACAGATCCTACCCTCCCTGCACAGATCCTGGCCA CTCTTCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAG ATCCTGCCCTCCCTGCACAGATCCTGGCCACTCTTCACAGATCCTGGCCA CTCTGCACAGATCCTGGCCTCCCTGCACAGATCCTGGCCACCCTGCAAAG ACCCTGGCCACTCTGCACAGACCCTGCCCTCCCTGCATAGATCCTGGCCA CTCTGCACAGATCCTGGCCACTCTGCACAGATCCTG	LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding		4460		chr20	TogoVar
MAN2B2_chr4_6570189_6628362	6579132	C C	CCACCATC others(913): Show CCACCATCACCACCACCACCCTTCACCACCACCACCACCACCACCACCAT CACCACCACCACCCTTCACCACCATCACCACCACCACCATCACCACCACC ATCACCATCACCACCACCACCATCACCACCATCACCATCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCA CCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0270 a0002c0002t0001g0270	1	331	0.0030	920	c.391 others(935): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCACCACC ACCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCA CCATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACC ATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCAC CACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCATCACCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(913): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGAAAAGGGGAGGAGGCGG AGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAG GGGGAAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGG AGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGG AGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGG AGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAG GGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGG GAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGAGGAGGGGGAAAAGGGGAG GAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGG AGGGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGGAGGAGGCGGAGCAGTA GGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGG GAGGAGGCGGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGA GGAGGGAAAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGA AGAGGAGGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGA GGGGGAAAGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAA AGAGGGGGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACA GGAGGAAGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0040 a0040	a0040c0052 a0040c0052	a0040c0052t0001 a0040c0052t0001	a0040c0052t0001g0124 a0040c0052t0001g0124	1	8	0.1250	920	c.641 others(935): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTCCCTCCTCCCCATCC TTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTTC CCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCC GCCTCCTCCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCC TCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTT TCCCCCTCCTCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTCAC TCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCC CCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCT CCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCC TCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCA CTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTTCCCCCTCCTCCCC CCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTCACTCTTCTCTCCCTAC TGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCC TCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCT CCCCTTTTCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(913): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGG AGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGA GGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGG GGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAG AGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAG GAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAG AGGGAGAGGAGGGGGGGAGGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAA GGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGG GGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGG AAAAGGGGGAGGAGGCGGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAG GATGGGGAGGAGGGAAAAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGG GGAGAAAGAAGAGGAGGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGA CAGGGAAGAGGGGGAAAGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAA GGAAGAGAAAGAGGGGGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGA GGAGGAACAGGAGGAAGAGGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0104 a0003c0004t0002g0104	1	8	0.1250	920	c.641 others(935): Show c.641+260_641+261insTCCTCTTCCTCCTGTTCCTCCTCTCCCTTC TCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCCTTCTCTCTC TTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTGTCCTCACCC TTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCCCCTTCCTTC TCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATCCTTCCCCTC CTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTTCCCCTTCCT CCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTC CCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCC TCCTCCCCCCTTCTCTCACTCCCTCCCCCCCTCCTCTCCCTCTTCACTCT TCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCT TCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCT CCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCT CCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTC TTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCC TTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACT GCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCT CCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTC CCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(913): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGG GGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAA GGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGG AAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGA GGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGA GGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAG AGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAAG GGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGAGGA GGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGG GAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGG GAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGA AGGGAGGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGG GAGGGGAGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	213	0.0047	920	c.250 others(935): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTCCCC CTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCT CCCCCTCCACTCCCCTCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCC CTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTC CCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCC CCCTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCAC CCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTC CCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCC CCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGC CTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MPPED1_chr22_43407014_43512848	43432644	G G	GGAGGAGA others(913): Show GGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGG AGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGG GAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGGG AAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAA AGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGA GATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAAAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGATAAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0184 a0001c0002t0004g0184	1	62	0.0161	920	c.225 others(937): Show c.225-2388_225-2387insGGAGAGAGAGGGAAAGAGAGAGAGAAGG GGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAG AGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGA GAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGG AGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATATAA others(913): Show ATATATAAAATCTTATTTTATATATATTTGATATATATTTTTTATATATT TTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCTTATTTTATATATATTTTATATATATTTTATATATATATAAAATCTTA CTTTATATTTTATATATATGAAATCTTACTTTATATATATTTTATATATA TATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTATTTTAT ATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTAT TTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTAT ATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATAAG ATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATATTTT ATATATATATAAAATAAGATTTTATATATATTTTATATATATATAAAATA AGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATATT TTATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTAT ATATATTTTATATATATAAAATAAGATTTTATATATATATATAAAATAAG ATTTTATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTT TATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATA TATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAAGA TTTTATATATATAAAATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATA TTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	242	0.0041	920	c.-5+ others(935): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTATTTTA TATATATATATAAAATCTTATTTTATATATATAAAATATATATAAAATCT TATTTTATATATATATAAAATCTTATTTTATATATATATAAAATATATAT AAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATA TATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATATAT ATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTA TATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATAA GATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATATATAA AATATATATAAAGTAAGATTTCATATATATAAAATATAAAGTAAGATTTT ATATATATATAAAATATATATAAAATATATATAAAATAAGATTTTATATA TATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATAA AAAATATATATCAAATATATATAAAATAAGATTTTATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATATAA others(913): Show ATATATAAAATCTTATTTTATATATATTTGATATATATTTTTTATATATT TTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCTTATTTTATATATATTTTATATATATTTTATATATATATAAAATCTTA CTTTATATTTTATATATATGAAATCTTACTTTATATATATTTTATATATA TATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTATTTTAT ATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTAT TTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTAT ATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATAAG ATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATATTTT ATATATATATAAAATAAGATTTTATATATATTTTATATATATATAAAATA AGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATATT TTATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTAT ATATATTTTATATATATAAAATAAGATTTTATATATATATATAAATTAAG ATTTTATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTT TATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATA TATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAAGA TTTTATATATATAAAATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATA TTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	242	0.0041	920	c.-5+ others(935): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTAATTTA TATATATATATAAAATCTTATTTTATATATATAAAATATATATAAAATCT TATTTTATATATATATAAAATCTTATTTTATATATATATAAAATATATAT AAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATA TATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATATAT ATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTA TATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATAA GATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATATATAA AATATATATAAAGTAAGATTTCATATATATAAAATATAAAGTAAGATTTT ATATATATATAAAATATATATAAAATATATATAAAATAAGATTTTATATA TATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATAA AAAATATATATCAAATATATATAAAATAAGATTTTATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar

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