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
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(303): Show ACCACACCAGGCCACGCCACACCAAGCCACACCACACCAGGCCACACCAC ACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAG GCCACACCACACCAGGCCACACCACACCAGGCCACACCACACCATACCAC ACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCAC ACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAG GCCACACCACACCAGGCCACACCACACCACGCCACACCACACCACGCCAC ACCACACCAGG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	76	0.0132	310	c.510 others(325): Show c.510+619_510+620insGGCCACGCCACACCAAGCCACACCACACCA GGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCA CACCACACCAGGCCACACCACACCAGGCCACACCACACCAGGCCACACCA CACCATACCACACCACACCAGGCCACACCACACCATACCACACCACACCA GGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCA CACCACACCAGGCCACACCACACCAGGCCACACCACACCACGCCACACCA CACCACGCCACACCACACCAGGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIP2C_chr10_269201_694668	323010	G G	GGCGAGAG others(303): Show GGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGGCCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGG CGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGG GCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGG GTGCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGG TGCGGGGCTCCAGCGAGAGACCGGTGTTGTTAGAACAGTCAGTCGGGGGT GCGGGGCTCCA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0023	1	67	0.0149	310	c.392 others(329): Show c.3924+3995_3924+3996insTGGAGCCCCGCACCCCCGACTGACTG TTCTAACAACACCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGT TCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGCACCCCCGAC TGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGCAC CCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCACC CCCGACTGACTGTTCTAACAACGCCGGCCTCTCGCCGGAGCCCCGCACCC CCGACTGACTGTTCTAACAGCGCCGGTCTCTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323319	C C	CTGTTAGA others(303): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGGCCGGCGTT GTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTG TTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCAGCGAGAGACC GGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCAGCG AGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGA GAGACCGGTGT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02027.hp1 HG01515.hp2 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0005 a0001c0012t0002 a0001c0001t0005 a0001c0012t0002	a0001c0001t0005g0023 a0001c0012t0002g0047 a0001c0001t0005g0023 a0001c0012t0002g0047	2	68	0.0294	310	c.392 others(329): Show c.3924+3686_3924+3687insACACCGGTCTCTCGCTGGAGCCCCGC ACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCA CCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAG CCCCGCACCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTC GCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGCCGGCCTCTCG CCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGC CGGAGCCCCGCACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	418105	C C	CCACCTGC others(303): Show CCACCTGCACCTGTCAGGGCTTCGATAGGCCTCCCTGTCCACCTGCACCT GTCAGGGCTTCGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCG ATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGATAGGCCTCCCT GTCCACCTGCACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCTGCAC CTGTCAGGGCTCGGATAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCTC GGATAGGCCTCCCTGTCCACCTGCACCTGTCAGAGCTCGGACAGGCCTCC CTGTCCACCTG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0018 a0001c0008t0001g0018	1	68	0.0147	310	c.739 others(325): Show c.739+959_739+960insCAGGTGGACAGGGAGGCCTGTCCGAGCTCT GACAGGTGCAGGTGGACAGGGAGGCCTATCCGAGCCCTGACAGGTGCAGG TGGACAGGGAGGCCTATCCGAGCCCTGACAGGTGCAGGTGGACAGGGAGG CCTGTCCGAGCTCTGACAGGTGCAGGTGGACAGGGAGGCCTATCGAAGCC CTGACAGGAACAGGTGGACAGGGAGGCCTATCGAAGCCCTGACAGGAACA GGTGGACAGGGAGGCCTATCGAAGCCCTGACAGGTGCAGGTGGACAGGGA GGCCTATCGAAGCCCTGACAGGTGCAGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608555	C C	CCCCACAC others(303): Show CCCCACACACACACACACCCCCCCACACACACACCCCCCCCCACACACAC ACACACCCCCACACACACACCCCCCCCACACACACACCCCCCCCCCCACA CACACACCCCCCCCCCACACACACACACACACCCCCACACACACACCCCC CCCCACACACACACCCCCCCCCCACACACACACCCCCCCCACACACACAC ACATCCCCCCCCACACACACACACATCCCCCCCACACACACACACATCCC CCCCCACACACACACACATCCCCCCCCACACACACACACATCCCCCCCCA CACACACACAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	54	0.0185	310	c.85+ others(327): Show c.85+80938_85+80939insATGTGTGTGTGTGGGGGGGGATGTGTGT GTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGT GGGGGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGG GTGTGTGTGTGGGGGGGGGGTGTGTGTGTGGGGGGGGGTGTGTGTGTGGG GGTGTGTGTGTGTGTGTGGGGGGGGGGTGTGTGTGTGGGGGGGGGGGTGT GTGTGTGGGGGGGGTGTGTGTGTGGGGGTGTGTGTGTGTGTGGGGGGGGG TGTGTGTGTGGGGGGGTGTGTGTGTGTGTGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1643923	C C	CCCCGCCG others(303): Show CCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTG TGTCACCCTGGAACCCGCCGGCCCTCACCTGTGTCACCCTGGAACCCGCC GGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACC CTGGAACCCGCCGGCCCTCACCTGTGTCACCCTGGAACCCGCCGGTCCTC ACCTGTGTCACCCTCGAACCCGCCGGTCCTCACCTGTGTCACCCTCGAAC CCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTG TCACCCTCCAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0039 a0001c0002t0009g0039	1	28	0.0357	310	c.181 others(331): Show c.1810+10885_1810+10886insTCCTCACCTGTGTCACCCTCGACC CCGCCGGCCCTCACCTGTGTCACCCTGGAACCCGCCGGCCCTCACCTGTG TCACCCTGGAACCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGG CCCTCACCTGTGTCACCCTGGAACCCGCCGGCCCTCACCTGTGTCACCCT GGAACCCGCCGGTCCTCACCTGTGTCACCCTCGAACCCGCCGGTCCTCAC CTGTGTCACCCTCGAACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCC GCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	31452239	T T	TAGCAGGC others(303): Show TAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGCGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAA CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTG GTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	119	0.0084	310	c.893 others(329): Show c.8938-7613_8938-7612insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCCATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTGCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	59/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33010062	A A	ATGTACAC others(303): Show ATGTACACATGTGTGTGCGCATGTGTATGTACACACGTGTGTGCGCATGT GTATGTACACACGTGTGTGCGCATGTGTATGTACACACGTGTGTGCGCAT GTGTATGTACACACGTGTGTGCGCATGTGTATGTACACACGTGTGTGCGC ATGTGTATGTACACACGTGTGTGCGCATGTGTATGTACACACGTGTGTGC GCATGTGTATGTACACACGTGTGTGCGCATGTGTATGTACACACGTGTGC GCGCATGTGTATGTACACACGTGTGCGCGCATGTGTATGTACACACGTGT GCGCGCATGTG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	113	0.0088	310	c.93+ others(327): Show c.93+10076_93+10077insCACATGCGCGCACACGTGTGTACATACA CATGCGCGCACACGTGTGTACATACACATGCGCGCACACGTGTGTACATA CACATGCGCACACACGTGTGTACATACACATGCGCACACACGTGTGTACA TACACATGCGCACACACGTGTGTACATACACATGCGCACACACGTGTGTA CATACACATGCGCACACACGTGTGTACATACACATGCGCACACACGTGTG TACATACACATGCGCACACACGTGTGTACATACACATGCGCACACACGTG TGTACATACACATGCGCACACACATGTGTACA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DNAAF9_chr20_3244306_3412669	3261761	T T	TAAGATTT others(303): Show TAAGATTTTTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGCGGATCACGAGGTCAAGAGATCGAGACCATCCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0334 a0001c0003t0026g0334	1	272	0.0037	310	c.287 others(329): Show c.2874-1734_2874-1733insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGGATGGTCTCGATC TCTTGACCTCGTGATCCGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGCAAAAATCTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	31/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3261761	T T	TAAGATTT others(303): Show TAAGATTTTTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0027 a0001c0003t0012g0027	1	272	0.0037	310	c.287 others(329): Show c.2874-1734_2874-1733insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGCAAAAATCTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	31/36			chr20	TogoVar
DNAH8_chr6_38710311_39035792	38843176	T T	TAAAAAAA others(303): Show TAAAAAAAATTTGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02895.hp2 HG02896.hp1 others(1): Show HG02055.hp2 HG02895.hp2 HG02896.hp1 HG02976.hp2	a0027 a0047 a0057 a0027 a0047 a0057	a0027c0039 a0047c0077 a0057c0061 a0027c0039 a0047c0077 a0057c0061	a0027c0039t0001 a0047c0077t0001 a0057c0061t0001 a0027c0039t0001 a0047c0077t0001 a0057c0061t0001	a0027c0039t0001g0266 a0027c0039t0001g0267 a0047c0077t0001g0238 others(1): Show a0027c0039t0001g0266 a0027c0039t0001g0267 a0047c0077t0001g0238 a0057c0061t0001g0064	4	284	0.0141	310	c.484 others(327): Show c.4845+287_4845+288insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAATTTGTT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	35/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPH6_chr15_35365880_35551165	35457361	T T	TCAATAAT others(303): Show TCAATAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGT CGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGC CCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	214	0.0047	310	c.313 others(327): Show c.313-2542_313-2541insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAATTATTG	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPP6_chr7_154047398_154899285	154749501	A A	AGGCTTTA others(303): Show AGGCTTTACTGAGAGAGGGTGAGGGAGCATAGGACAGGAGGGAGAGGGAT GGCGGCTTTACTGAGAGAGTGTGAGGGAGCATAGGATGGGAGAGAGAGGG ATGGAGGCTTTACTGAGAGAGGGTGAGAGCATAGGACGAGAGAGAGAGGG ATGGAGGCTTTACTGAGAGAGGGTGAGGGAGCATAGGACAGGAGGGAGAG GGATGGCGGCTTTACTGAGAGAGGGTGAGAGAGCATAGGACGGGAGAGAG AGGGATGGAGGCTTTACTGAGAGAGGGTGAGGGAGCATAGGACAGGAGGG AGAGGGATGGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02129.hp2 NA18747.hp2 HG00558.hp2 HG02129.hp2 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0024 a0002c0002 a0001c0001 a0001c0024 a0002c0002	a0001c0001t0016 a0001c0024t0028 a0002c0002t0029 a0001c0001t0016 a0001c0024t0028 a0002c0002t0029	a0001c0001t0016g0005 a0001c0024t0028g0002 a0002c0002t0029g0003 a0001c0001t0016g0005 a0001c0024t0028g0002 a0002c0002t0029g0003	3	27	0.1111	310	c.884 others(329): Show c.884-19894_884-19893insGGAGCATAGGACAGGAGGGAGAGGGA TGGCGGCTTTACTGAGAGAGTGTGAGGGAGCATAGGATGGGAGAGAGAGG GATGGAGGCTTTACTGAGAGAGGGTGAGAGCATAGGACGAGAGAGAGAGG GATGGAGGCTTTACTGAGAGAGGGTGAGGGAGCATAGGACAGGAGGGAGA GGGATGGCGGCTTTACTGAGAGAGGGTGAGAGAGCATAGGACGGGAGAGA GAGGGATGGAGGCTTTACTGAGAGAGGGTGAGGGAGCATAGGACAGGAGG GAGAGGGATGGCGGCTTTACTGAGAGAGGGTGAG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(303): Show ATATATATAGTATATATATAGTATATATATATACTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAT AGTGTATATATAGTATATATATAGTATATATATAGTATATATATATAGTG TATATATATAGTATATATATAGTGTATATATATAGTATATATATAGTATA TATATAGTATATATATAGTATATATATGTATATATATATAGTATATATAT ACTATATATATATAGTATATATATAGTATATATATATAGTATATATATAG TATATATATAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0018 a0001c0017t0018	a0001c0017t0018g0148 a0001c0017t0018g0148	1	172	0.0058	310	c.355 others(329): Show c.355-25607_355-25606insGTATATATATAGTATATATATATACT ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATATAGTGTATATATAGTATATATATAGTATATATATAG TATATATATATAGTGTATATATATAGTATATATATAGTGTATATATATAG TATATATATAGTATATATATAGTATATATATAGTATATATATGTATATAT ATATAGTATATATATACTATATATATATAGTATATATATAGTATATATAT ATAGTATATATATAGTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DTHD1_chr4_36276616_36352511	36323570	T T	TGCTAGGT others(303): Show TGCTAGGTATTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0019 a0019	a0019c0045 a0019c0045	a0019c0045t0013 a0019c0045t0013	a0019c0045t0013g0281 a0019c0045t0013g0281	1	271	0.0037	310	c.234 others(329): Show c.2340+7097_2340+7098insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCTAGGTATTTTA	DTHD1	ENSG00000197057.10	transcript	ENST00000639862.2	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ECHDC2_chr1_52890910_52926740	52923161	T T	TAAAAAAA others(303): Show TAAAAAAAAAAAAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02572.hp2 others(3): Show HG02055.hp2 HG02109.hp2 HG02572.hp2 HG02897.hp2 HG03486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0133 a0001c0001t0004g0134 others(1): Show a0001c0001t0004g0011 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0135	6	300	0.0200	310	c.-14 others(321): Show c.-1489_-1488insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCCCTTTTTTTTTTTTTT	ECHDC2	ENSG00000121310.17	transcript	ENST00000371522.9	protein_coding		1422		chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44889536	T T	TAAAACAA others(303): Show TAAAACAAAAAAAAATTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18969.hp1 NA18971.hp2 others(2): Show NA18944.hp2 NA18969.hp1 NA18971.hp2 NA18989.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(2): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132	5	314	0.0159	310	c.657 others(327): Show c.657-7798_657-7797insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCAATTTTTTTTTGTTTT	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	6/11			chr1	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(303): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01168.hp2 others(4): Show HG00642.hp2 HG00738.hp1 HG01168.hp2 HG01169.hp2 HG01517.hp1 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0074 a0001c0001t0001g0010 a0001c0001t0001g0074	7	382	0.0183	310	c.83+ others(323): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCA CCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPB41L3_chr18_5387386_5548997	5411652	T T	TGTGATTA others(303): Show TGTGATTAATATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTATATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18906.hp2 HG02109.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0072 a0001c0002t0002g0048 a0001c0002t0002g0072	2	195	0.0103	310	c.206 others(329): Show c.2068-1034_2068-1033insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAT AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCT GTCTCAAAAAAAAAAAAAAAAAAATATTAATCAC	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	13/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5411652	T T	TGTGATTA others(303): Show TGTGATTAATATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp2 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0095 a0001c0002t0002g0040 a0001c0002t0002g0095	2	195	0.0103	310	c.206 others(329): Show c.2068-1034_2068-1033insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAATATTAATCAC	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	13/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5411652	T T	TGTGATTA others(303): Show TGTGATTAATATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02451.hp2 others(2): Show HG01884.hp1 HG02451.hp1 HG02451.hp2 HG02809.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0028 a0001c0002t0002g0029 others(2): Show a0001c0002t0002g0009 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0163 a0001c0002t0002g0173	5	198	0.0253	310	c.206 others(329): Show c.2068-1034_2068-1033insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGTGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAATATTAATCAC	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	13/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5411652	T T	TGTGATTA others(303): Show TGTGATTAATATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTATATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19240.hp2 HG03130.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0220 a0001c0002t0002g0013 a0001c0002t0002g0220	2	195	0.0103	310	c.206 others(329): Show c.2068-1034_2068-1033insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAT AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAATATTAATCAC	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	13/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5411652	T T	TGTGATTA others(303): Show TGTGATTAATATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02145.hp1 HG02257.hp2 others(12): Show HG00735.hp2 HG02145.hp1 HG02257.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02922.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 NA18522.hp1 NA20129.hp1	a0001 a0003 a0012 others(1): Show a0001 a0003 a0012 a0013	a0001c0002 a0003c0004 a0003c0010 others(2): Show a0001c0002 a0003c0004 a0003c0010 a0012c0013 a0013c0023	a0001c0002t0002 a0001c0002t0010 a0003c0004t0002 others(4): Show a0001c0002t0002 a0001c0002t0010 a0003c0004t0002 a0003c0004t0005 a0003c0010t0007 a0012c0013t0001 a0013c0023t0005	a0001c0002t0002g0041 a0001c0002t0002g0057 a0001c0002t0002g0060 others(12): Show a0001c0002t0002g0041 a0001c0002t0002g0057 a0001c0002t0002g0060 a0001c0002t0010g0032 a0003c0004t0002g0008 a0003c0004t0002g0093 a0003c0004t0002g0149 a0003c0004t0002g0168 a0003c0004t0005g0006 a0003c0004t0005g0063 a0003c0004t0005g0101 a0003c0010t0007g0073 a0003c0010t0007g0186 a0012c0013t0001g0086 a0013c0023t0005g0015	15	208	0.0721	310	c.206 others(329): Show c.2068-1034_2068-1033insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAATATTAATCAC	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	13/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5411652	T T	TGTGATTA others(303): Show TGTGATTAATATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	1	194	0.0052	310	c.206 others(329): Show c.2068-1034_2068-1033insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAATATTAATCAC	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	13/22			chr18	TogoVar
EPB41_chr1_28909569_29125041	29100313	C C	CAAAAAAA others(303): Show CAAAAAAATTAGCTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18747.hp2 NA18948.hp1 others(3): Show HG02071.hp2 NA18747.hp2 NA18948.hp1 NA18995.hp1 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0144 a0001c0001t0002g0172 a0001c0001t0002g0173 others(3): Show a0001c0001t0002g0144 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0182 a0001c0003t0002g0156	6	201	0.0299	310	c.231 others(329): Show c.2313+2394_2313+2395insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAATTAGCTGGG	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA6_chr3_96809594_97766532	96934845	T T	TAGAAAAA others(303): Show TAGAAAAAACATCCTTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAA ACCCCGTCTCTACTAAAAAGTACAAAAAATTAGCCGGGCGCGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCG CAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03195.hp2 HG03579.hp2 HG00735.hp1 HG03195.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0024 a0001c0002t0026 a0001c0002t0001 a0001c0002t0024 a0001c0002t0026	a0001c0002t0001g0030 a0001c0002t0024g0031 a0001c0002t0026g0032 a0001c0002t0001g0030 a0001c0002t0024g0031 a0001c0002t0026g0032	3	82	0.0366	310	c.451 others(329): Show c.451-52470_451-52469insGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC AAGGTGAAACCCCGTCTCTACTAAAAAGTACAAAAAATTAGCCGGGCGCG GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACT GCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAGAAAAAACATCCTT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHX1_chr1_225805124_225850563	225808718	T T	TAAGAGTA others(303): Show TAAGAGTAACGAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00558.hp2 others(88): Show HG00099.hp1 HG00280.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02523.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03669.hp1 HG03834.hp1 HG04199.hp1 HG06807.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18969.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp1 NA18993.hp2 NA19000.hp1 NA19012.hp1 NA19066.hp2 NA19080.hp2 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(17): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0015 a0001c0018 a0001c0022 a0001c0028 a0001c0029 a0001c0035 a0001c0046 a0001c0047 a0002c0002 a0002c0006 a0002c0013 a0002c0025 a0002c0030 a0003c0005 a0003c0007 a0004c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0004t0001 a0001c0011t0001 a0001c0015t0001 a0001c0018t0001 a0001c0022t0001 a0001c0028t0002 a0001c0029t0001 a0001c0035t0001 a0001c0046t0001 a0001c0047t0001 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0002c0013t0001 a0002c0025t0001 a0002c0030t0001 a0003c0005t0001 a0003c0007t0001 a0004c0041t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0022 others(81): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0318 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0372 a0001c0001t0001g0374 a0001c0001t0001g0386 a0001c0001t0001g0391 a0001c0001t0001g0392 a0001c0001t0002g0302 a0001c0001t0002g0375 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0003t0001g0281 a0001c0003t0001g0288 a0001c0003t0001g0309 a0001c0003t0001g0331 a0001c0004t0001g0319 a0001c0004t0001g0320 a0001c0004t0001g0322 a0001c0004t0001g0378 a0001c0011t0001g0314 a0001c0015t0001g0021 a0001c0015t0001g0297 a0001c0015t0001g0298 a0001c0018t0001g0377 a0001c0018t0001g0381 a0001c0018t0001g0385 a0001c0018t0001g0389 a0001c0022t0001g0004 a0001c0028t0002g0324 a0001c0028t0002g0325 a0001c0029t0001g0330 a0001c0035t0001g0321 a0001c0046t0001g0300 a0001c0047t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0315 a0002c0002t0001g0317 a0002c0002t0001g0370 a0002c0002t0001g0382 a0002c0002t0002g0025 a0002c0002t0002g0369 a0002c0002t0002g0373 a0002c0002t0002g0379 a0002c0002t0002g0380 a0002c0002t0002g0383 a0002c0002t0002g0384 a0002c0002t0002g0388 a0002c0006t0001g0003 a0002c0006t0001g0279 a0002c0006t0001g0323 a0002c0006t0001g0329 a0002c0006t0001g0360 a0002c0006t0001g0371 a0002c0013t0001g0316 a0002c0025t0001g0310 a0002c0030t0001g0390 a0003c0005t0001g0287 a0003c0005t0001g0289 a0003c0005t0001g0292 a0003c0005t0001g0376 a0003c0007t0001g0296 a0004c0041t0001g0294	91	401	0.2269	310	c.-14 others(321): Show c.-1457_-1456insAAGAGTAACGAATGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAA	EPHX1	ENSG00000143819.13	transcript	ENST00000272167.10	protein_coding		1405		chr1	TogoVar
EPSTI1_chr13_42881388_42997241	42885377	T T	TAAAAAAA others(303): Show TAAAAAAAAAAAAAAAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAA AAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0349 a0001c0001t0019g0349	1	252	0.0040	310	c.31 others(321): Show c.3116_*3117insTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCTTTTTTTTTTTTTTT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding		1010		chr13	TogoVar
EVC2_chr4_5557439_5713559	5706429	C C	CATAGATA others(303): Show CATAGATACATACATAGATAGATAGATAGATACATACATACATACATACA TAGATACATAGATAGATAGATACATAGATACATAGATACATAGATAGATA CATACATACATACATACATAGATACATAGATAGATAGATACATAGATAGA TAGATAGATAGATACATAGATACATACATAGATAGATAGATACATAGATA GATAGATACATAGATACATAGATAGATAGATACATAGATAGATAGACACA TAGATAGATACATAGATAGATAGATAGATACATATAGATAGATAGATAGA TACATAGATAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0085 a0003c0085	a0003c0085t0005 a0003c0085t0005	a0003c0085t0005g0290 a0003c0085t0005g0290	1	227	0.0044	310	c.228 others(327): Show c.228+1856_228+1857insCTATCTATGTATCTATCTATCTATCTAT ATGTATCTATCTATCTATCTATGTATCTATCTATGTGTCTATCTATCTAT GTATCTATCTATCTATGTATCTATGTATCTATCTATCTATGTATCTATCT ATCTATGTATGTATCTATGTATCTATCTATCTATCTATCTATGTATCTAT CTATCTATGTATCTATGTATGTATGTATGTATGTATCTATCTATGTATCT ATGTATCTATGTATCTATCTATCTATGTATCTATGTATGTATGTATGTAT GTATCTATCTATCTATCTATGTATGTATCTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5706429	C C	CATAGATA others(303): Show CATAGATACATACATAGATAGATAGATAGATACATACATACATACATACA TAGATACATAGATAGATAGATACATAGATACATAGATACATAGATAGATA CATACATACATACATACATAGATACATAGATAGATAGATACATAGATAGA TAGATAGATAGATACATAGATACATACATAGATAGATAGATACATAGATA GATAGATACATAGATACATAGATAGATAGATACATAGATAGATAGACACA TAGATAGATACATAGATAGATAGATAGATACATATAGATAGATAGATAGA TACATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0026 a0006c0012t0026	a0006c0012t0026g0065 a0006c0012t0026g0065	1	300	0.0033	310	c.-49 others(321): Show c.-4952_-4951insATAGATACATACATAGATAGATAGATAGATACAT ACATACATACATACATAGATACATAGATAGATAGATACATAGATACATAG ATACATAGATAGATACATACATACATACATACATAGATACATAGATAGAT AGATACATAGATAGATAGATAGATAGATACATAGATACATACATAGATAG ATAGATACATAGATAGATAGATACATAGATACATAGATAGATAGATACAT AGATAGATAGACACATAGATAGATACATAGATAGATAGATAGATACATAT AGATAGATAGATAGATACATAGATAG	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4771		chr4	TogoVar
EVI5_chr1_92503696_92790108	92598952	C C	CAGTAGAT others(303): Show CAGTAGATGATAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCGTGCGCCA CCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGC CTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0134 a0001c0001t0035g0134	1	166	0.0060	310	c.207 others(329): Show c.2070+6354_2070+6355insCACTTTGGGAGGCCGAGACGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCG TCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGCACGCCTGTA GTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGAATTATCATCTACT	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	18/19			chr1	TogoVar
EXD3_chr9_137301896_137428162	137328610	G G	GACTACGC others(303): Show GACTACGCGGGGCTACGCGGGGCTACGCGGGGCTACGCGGGACTACACGG GAGCTACACGGGAGCTACACGGGAGCTACGCGGGACTACACGGGACTACA CGGGAGCTACACGGGACTACGCGGGACTACGCGGGACTACGCGGGACTAC GCGGGACTACACGGGAGCTACACGGGAGCTACACGGGAGCTACGCGGGAC TACGCGGGACTACGCGGGACTACGCGGGACTACACGGGACTACACGGGAG CTACACGGGACTACGCGGGACTACGCGGGACTACGCGGGACTACGCGGGA GCTACGCGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0066 a0006c0005t0001g0066	1	79	0.0127	310	c.199 others(329): Show c.1999-4468_1999-4467insTCCCGCGTAGCTCCCGCGTAGTCCCG CGTAGTCCCGCGTAGTCCCGCGTAGTCCCGTGTAGCTCCCGTGTAGTCCC GTGTAGTCCCGCGTAGTCCCGCGTAGTCCCGCGTAGTCCCGCGTAGCTCC CGTGTAGCTCCCGTGTAGCTCCCGTGTAGTCCCGCGTAGTCCCGCGTAGT CCCGCGTAGTCCCGCGTAGTCCCGTGTAGCTCCCGTGTAGTCCCGTGTAG TCCCGCGTAGCTCCCGTGTAGCTCCCGTGTAGCTCCCGTGTAGTCCCGCG TAGCCCCGCGTAGCCCCGCGTAGCCCCGCGTAGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXT1_chr8_117789490_118116826	117997304	T T	TATATATA others(303): Show TATATATATAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCTGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	187	0.0053	310	c.962 others(331): Show c.962+112780_962+112781insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAATTATATATAT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EYA3_chr1_27965344_28093610	28055471	T T	TTTTTTTT others(303): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03486.hp1 HG02895.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0029 a0001c0001t0007g0030	2	388	0.0052	310	c.33+ others(325): Show c.33+2522_33+2523insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	2/17			chr1	TogoVar
FAF1_chr1_50432028_50965267	50446976	T T	TCCCTAAT others(303): Show TCCCTAATAATTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC TGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp1 NA19043.hp2 others(1): Show HG02280.hp2 HG02630.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0086 others(1): Show a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0086 a0001c0001t0016g0027	4	157	0.0255	310	c.187 others(329): Show c.1870-5454_1870-5453insGGCCGGGCGCAGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAGAAAATTATTAGGG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	18/18			chr1	TogoVar
FAM120B_chr6_170301758_170412067	170398670	G G	GAAGGTAG others(303): Show GAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAAC TACGTCATAAGCCTTAGGAGTGAGTTGAGAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTG AGTGGGAAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTA GAACTATGTCATAACCCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCA TAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGG AGTGAGTGGGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	166	0.0060	310	c.269 others(329): Show c.2692+3127_2692+3128insAGAAAGGTAGAACTACGTCATAAGCC TTAGGAGTGAGTTGAGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAG TGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTGAGTGGGAAAGGTA GAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATA ACCCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAG TGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGAAA GGTAGAACTATGTCATAACTCTTAGGAGTGAGTG	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170398670	G G	GAAGGTAG others(303): Show GAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAAC TACGTCATAAGCCTTAGGAGTGAGTTGGGAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTG AGTGGGAAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTA GAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCA TAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGG AGTGAGTGGGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0221 a0001c0001t0005g0221	1	166	0.0060	310	c.269 others(329): Show c.2692+3127_2692+3128insAGAAAGGTAGAACTACGTCATAAGCC TTAGGAGTGAGTTGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAG TGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTGAGTGGGAAAGGTA GAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATA ACCCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAG TGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGAAA GGTAGAACTATGTCATAACTCTTAGGAGTGAGTG	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170398670	G G	GAAGGTAG others(303): Show GAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAAC TACGTCATAAGCCTTAGGAGTGAGTTGGGAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTG AGTGGGAAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTA GAACTATGTCATAACCCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCA TAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGG AGTGAGTGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00642.hp2 others(61): Show HG00280.hp2 HG00323.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02145.hp1 HG02273.hp2 HG02293.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG03017.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp2 NA18522.hp1 NA18906.hp2 NA18968.hp1 NA19043.hp2 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0006 a0001c0015 others(1): Show a0001c0001 a0001c0006 a0001c0015 a0010c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0006t0001 a0001c0015t0001 a0010c0013t0001	a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0224 others(61): Show a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0005g0170 a0001c0001t0005g0199 a0001c0001t0005g0203 a0001c0001t0005g0206 a0001c0001t0005g0211 a0001c0001t0005g0214 a0001c0001t0005g0216 a0001c0001t0005g0218 a0001c0001t0005g0222 a0001c0001t0005g0246 a0001c0001t0005g0260 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0207 a0001c0001t0006g0217 a0001c0001t0006g0219 a0001c0001t0006g0253 a0001c0001t0014g0223 a0001c0001t0020g0204 a0001c0001t0025g0185 a0001c0001t0026g0220 a0001c0001t0027g0208 a0001c0006t0001g0250 a0001c0006t0001g0251 a0001c0006t0001g0252 a0001c0015t0001g0249 a0010c0013t0001g0232	64	229	0.2795	310	c.269 others(329): Show c.2692+3127_2692+3128insAGAAAGGTAGAACTACGTCATAAGCC TTAGGAGTGAGTTGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAG TGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTGAGTGGGAAAGGTA GAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATA ACCCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAG TGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGAAA GGTAGAACTATGTCATAACTCTTAGGAGTGAGTG	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399483	A A	AGAAAGGT others(303): Show AGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTTAGGAGTGAGTGGGAAAGGTAGAACCATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG01891.hp2 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0040 a0001c0002t0013g0041 a0001c0002t0013g0040 a0001c0002t0013g0041	2	205	0.0098	310	c.269 others(329): Show c.2692+3927_2692+3928insCCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTTAGGAGTGAGTGGGAAAGGTAGAACCATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGGGAAAGGTAGAACTATGTCATAAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399483	A A	AGAAAGGT others(303): Show AGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG01243.hp1 others(9): Show HG00323.hp2 HG00639.hp2 HG01243.hp1 HG02258.hp1 HG02280.hp2 HG02717.hp2 HG02970.hp2 HG03471.hp2 HG03710.hp1 HG06807.hp2 NA18959.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0018 a0001c0001 a0001c0002 a0001c0018	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0002t0001 a0001c0018t0006	a0001c0001t0001g0012 a0001c0001t0001g0231 a0001c0001t0001g0236 others(8): Show a0001c0001t0001g0012 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0274 a0001c0001t0005g0212 a0001c0001t0006g0198 a0001c0001t0014g0210 a0001c0002t0001g0033 a0001c0018t0006g0213	12	215	0.0558	310	c.269 others(329): Show c.2692+3927_2692+3928insCCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGGGAAAGGTAGAACTATGTCATAAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399483	A A	AGAAAGGT others(303): Show AGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTTGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0215 a0001c0001t0005g0215	1	204	0.0049	310	c.269 others(329): Show c.2692+3927_2692+3928insCCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTTGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGGGAAAGGTAGAACTATGTCATAAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399483	A A	AGAAAGGT others(303): Show AGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGCGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18949.hp2 HG01167.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0257 a0001c0006t0001g0243 a0001c0001t0001g0257 a0001c0006t0001g0243	2	205	0.0098	310	c.269 others(329): Show c.2692+3927_2692+3928insCCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGCGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGGGAAAGGTAGAACTATGTCATAAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FASTKD3_chr5_7854159_7874031	7864812	G G	GAAAAAAA others(303): Show GAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG02630.hp1 others(2): Show HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02970.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0070 a0001c0001t0003g0018 a0001c0001t0003g0070	5	456	0.0110	310	c.152 others(329): Show c.1524+1085_1524+1086insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGATTTTTTTT	FASTKD3	ENSG00000124279.12	transcript	ENST00000264669.10	protein_coding	3/6			chr5	TogoVar
FASTKD3_chr5_7854159_7874031	7864812	G G	GAAAAAAA others(303): Show GAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	452	0.0022	310	c.152 others(329): Show c.1524+1085_1524+1086insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGATTTTTTTT	FASTKD3	ENSG00000124279.12	transcript	ENST00000264669.10	protein_coding	3/6			chr5	TogoVar
FBRSL1_chr12_132485151_132590188	132576199	T T	TTTTTTTT others(303): Show TTTTTTTTTCTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCAGCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0004 a0004	a0004c0062 a0004c0062	a0004c0062t0041 a0004c0062t0041	a0004c0062t0041g0139 a0004c0062t0041g0139	1	320	0.0031	310	c.170 others(327): Show c.1702-589_1702-588insTTTTTTTTTTTTTTCTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACC ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCAGCCTTTTTTTTCTT	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132576199	T T	TTTTTTTT others(303): Show TTTTTTTTTCTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCAGCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0099 a0001c0005t0005g0099	1	320	0.0031	310	c.170 others(327): Show c.1702-589_1702-588insTTTTTTTTTTTTTTTCTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACC ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCAGCCTTTTTTTTCTT	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXO34_chr14_55266421_55358611	55329134	T T	TTAAAACG others(303): Show TTAAAACGTGGTTTATTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(23): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00673.hp2 HG01069.hp1 HG01071.hp1 HG01433.hp1 HG01517.hp1 HG02071.hp1 HG02135.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG04184.hp1 NA18939.hp1 NA18941.hp2 NA18970.hp1 NA18983.hp1 NA18993.hp1 NA19060.hp1 NA19062.hp2 NA19079.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 a0002c0010t0003	a0002c0002t0002g0014 a0002c0002t0003g0037 a0002c0002t0003g0038 others(23): Show a0002c0002t0002g0014 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0040 a0002c0002t0003g0044 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0053 a0002c0002t0003g0079 a0002c0002t0003g0080 a0002c0002t0003g0085 a0002c0002t0003g0088 a0002c0002t0003g0089 a0002c0002t0003g0090 a0002c0002t0003g0091 a0002c0002t0003g0092 a0002c0002t0003g0096 a0002c0002t0003g0098 a0002c0002t0003g0100 a0002c0002t0003g0102 a0002c0002t0003g0107 a0002c0002t0011g0097 a0002c0010t0003g0045 a0002c0010t0003g0087	26	245	0.1061	310	c.-10 others(329): Show c.-10-21228_-10-21227insTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTAAAACGTGGTTTATTTCT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55329134	T T	TTAAAACG others(303): Show TTAAAACGTGGTTTATTTCTTTTTTTTTTTGAGATGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0084 a0002c0002t0003g0084	1	220	0.0045	310	c.-10 others(329): Show c.-10-21228_-10-21227insTTTTTTTTTTGAGATGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTAAAACGTGGTTTATTTCT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FER1L5_chr2_96637764_96709883	96659350	C C	CTTTCTTT others(303): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0166 a0002c0001t0001g0166	1	180	0.0056	310	c.748 others(325): Show c.748-989_748-988insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(303): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCG CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCT CCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA19075.hp2 HG01071.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0282 a0001c0001t0003g0187 a0001c0001t0002g0282 a0001c0001t0003g0187	2	261	0.0077	310	c.189 others(329): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar

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