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
ABCC4_chr13_95014835_95306451	95025448	A A	AGACCCAT others(812): Show AGACCCATACACACACACACCAGACCCCCACACCCCCACACCCATACACA CACACCCACCCACCCACACCCACACCCACCACACACACCCACACCCCCAC ACACACCCTCCCACCCCCACACACACACATACCCCCACCACACACCCACA CACCCCCTCACACACCCACACCCACCACACACCCCCACCACACACCCACA TACACCCACACCCCCACCACACACCCATACACACACCCCCACATACTAAT ACACACACACTCCCACACCCTCCCACCCCCCCACACCCCCACCACACACC AATACACACCCACACACCCCCTCACACACACACCCACACACCCATACACA CACCCACCACACACCCATACATACAAACCCCCACACCCCCTCACACCCTC CCCCCACTCACCCATACACAACCCCCACCACACCCCCACACCCATACACA CACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCC TCCCCCCACACACCCATACACACACCCCCACCACACCCCCACACCCATAC ACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACA CACCCTCCCCCCCACACACCCATACACACACCCCCACACCCCCACCACAC CCATACACACACACCCGTACCCCCTCACACCCTCCCCCCACACACCCATA CACACACACCCACACACACACCACACCCATACACACACATACCCCCACAC CCCCACACACACCCTCCCTCACACACACCCCCACCACACACCCATACACA CCCCAACCCCCCCACACACC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02965.hp2 others(1): Show HG02572.hp1 HG02630.hp1 HG02965.hp2 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0072 a0001c0002 a0001c0003 a0002c0072	a0001c0002t0002 a0001c0003t0002 a0002c0072t0002 a0001c0002t0002 a0001c0003t0002 a0002c0072t0002	a0001c0002t0002g0047 a0001c0002t0002g0125 a0001c0003t0002g0022 others(1): Show a0001c0002t0002g0047 a0001c0002t0002g0125 a0001c0003t0002g0022 a0002c0072t0002g0037	4	15	0.2667	819	c.387 others(838): Show c.3871-3767_3871-3766insGGTGTGTGGGGGGGTTGGGGTGTGTA TGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGTGG GGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGGG TGTGTGGGGGGAGGGTGTGAGGGGGTACGGGTGTGTGTGTATGGGTGTGG TGGGGGTGTGGGGGTGTGTGTATGGGTGTGTGGGGGGGAGGGTGTGTGAG GGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGGGGTGTGTGTGTGTATGG GTGTGGGGGTGTGGTGGGGGTGTGTGTATGGGTGTGTGGGGGGAGGGTGT GTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGGGGTGTGTGTGTA TGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGTGAGTGGGGGGAGGGT GTGAGGGGGTGTGGGGGTTTGTATGTATGGGTGTGTGGTGGGTGTGTGTA TGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGTGGGTGTGTATTGGTGTG TGGTGGGGGTGTGGGGGGGTGGGAGGGTGTGGGAGTGTGTGTGTATTAGT ATGTGGGGGTGTGTGTATGGGTGTGTGGTGGGGGTGTGGGTGTATGTGGG TGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTGTGTGAGGGGGTGTGTGGG TGTGTGGTGGGGGTATGTGTGTGTGTGGGGGTGGGAGGGTGTGTGTGGGG GTGTGGGTGTGTGTGGTGGGTGTGGGTGTGGGTGGGTGGGTGTGTGTGTA TGGGTGTGGGGGTGTGGGGGTCTGGTGTGTGTGTGTATGGGTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	AGACCCAT others(812): Show AGACCCATACACACACACACCAGACCCCCACACCCCCACACCCATACACA CACACCCACCCACCCACACCCACACCCACCACACACACCCACACCCCCAC ACACACCCTCCCACCCCCACACACACACATACCCCCACCACACACCCACA CACCCCCTCACACACCCACACCCACCACACACCCCCACCACACACCCACA TACACCCACACCCCCACCACACACCCATACACACACCCCCACATACTAAT ACACACACACTCCCACACCCTCCCACCCCCCCACACCCCCACCACACACC AATACACACCCACACACCCCCTCACACACACACCCACACACCCATACACA CACCCACCACACACCCATACATACACACCCCCACACCCCCTCACACCCTC CCCCCACTCACCCATACACAACCCCCACCACACCCCCACACCCATACACA CACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCC TCCCCCCACACACCCATACACACACCCCCACCACACCCCCACACCCATAC ACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACA CACCCTCCCCCCCACACACCCATACACACACCCCCACACCCCCACCACAC CCATACACACACACCCGTACCCCCTCACACCCTCCCCCCACACACCCATA CACACACACCCACACACACACCACACCCATACACACACATACCCCCACAC CCCCACACACACCCTCCCTCACACACACCCCCACCACACACCCATACACA CCCCAACCCCCCCACACACC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0051 a0002c0004t0002g0051	1	12	0.0833	819	c.387 others(838): Show c.3871-3767_3871-3766insGGTGTGTGGGGGGGTTGGGGTGTGTA TGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGTGG GGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGGG TGTGTGGGGGGAGGGTGTGAGGGGGTACGGGTGTGTGTGTATGGGTGTGG TGGGGGTGTGGGGGTGTGTGTATGGGTGTGTGGGGGGGAGGGTGTGTGAG GGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGGGGTGTGTGTGTGTATGG GTGTGGGGGTGTGGTGGGGGTGTGTGTATGGGTGTGTGGGGGGAGGGTGT GTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGGGGTGTGTGTGTA TGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGTGAGTGGGGGGAGGGT GTGAGGGGGTGTGGGGGTGTGTATGTATGGGTGTGTGGTGGGTGTGTGTA TGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGTGGGTGTGTATTGGTGTG TGGTGGGGGTGTGGGGGGGTGGGAGGGTGTGGGAGTGTGTGTGTATTAGT ATGTGGGGGTGTGTGTATGGGTGTGTGGTGGGGGTGTGGGTGTATGTGGG TGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTGTGTGAGGGGGTGTGTGGG TGTGTGGTGGGGGTATGTGTGTGTGTGGGGGTGGGAGGGTGTGTGTGGGG GTGTGGGTGTGTGTGGTGGGTGTGGGTGTGGGTGGGTGGGTGTGTGTGTA TGGGTGTGGGGGTGTGGGGGTCTGGTGTGTGTGTGTATGGGTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(812): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGATGGA GGGAGGGAAGGAAAGGAGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGG ATGGGATGGAGGGAGGGAAGGAAAGGAGGGATGGGATGGAGGGAGGGAAG GAAAGGAGGGATGGGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGATGG AGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGG GATGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAA GGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGAT GGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGA AAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGG GAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAT GGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0042 a0004c0008t0003g0042	1	25	0.0400	819	c.259 others(840): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTC CTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCATCCCAT CCCTCCTTTCCTTCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCAT CCCATCCCTCCTTTCCTTCCCTCCCTCCCATCCCATCCCTCCTTTCCTTC CCTCCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCATCCCATCCCT CCTTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCA TCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTT TCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCC TTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADPRHL1_chr13_113394611_113458488	113419038	C C	CCCCTTCC others(812): Show CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTT CTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCC CCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCC CTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTC TTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTT CTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCC CCTTCCCTTCCTTCTTTTCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTT TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTTTCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0026 a0026	a0026c0024 a0026c0024	a0026c0024t0005 a0026c0024t0005	a0026c0024t0005g0005 a0026c0024t0005g0005	1	206	0.0049	819	c.106 others(838): Show c.1061+3787_1061+3788insAGGGGAAGGGGAAGAAAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAG GAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAG GGAGGGAGGGAGGGAAGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGG GAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGA AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGA AGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGG AGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAG AAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGG AAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAG GGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGG GAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGA AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGA AGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ANKLE2_chr12_132720503_132766832	132742761	C C	CTCACCAC others(812): Show CTCACCACCATCATCCTCACCACATCTTCACCATCATCATCCTCATCAGC ATCACAACCATCATCACTACCATCACCCTCACCATCACCACCACAACCAT CATCCTCCCTACCACCACCATTATCTCACTCACCATCACAATCCTCACCA CTACCACCACCACCATCTTCATCCTCACCACCATCATGACCACATCATCA CCATCTTCATCACCATCCTCACCACCATCATCCTCAACACAACCATCATC ACTACCATCATCCTCACTACCACCACCACTGTCACCATCAACCACCATCA CCATCACCATAATCACAATCACCAACATCATCACCACCATCATTCTCACT ACCACCATCACCATCAAGTCATCACCACCATCATCATCCTCATTGTCACC ATTACCACAATCCTCACCACTACCACCATCACCACCTTCATCACCATCTT CATCACCACCATAATCATCTTTCTCACTACCACCGTCATCACCATCACCA TCACCACCATCATTCTCACTACCACCATCACCATCAAGTCATCACCACCA TCATCATCCTCATTGTCACCATTACCACAATCCTCACCACTACCTCCATC ACCACCTTCATCACCATCTTCATCACCACCATAATCATTTCTCACTACCA CCGTCATCACCATCACCATCACCACCATCATTCTCACTACCACCATCACC ATCATAATCATCACTATCACCATCACAACCATTATCCTCACCACCACCAT CATTCTCACTACCATCACCACCACCATCACCACCATCATTCTACCACCGT CATCACCATTATAATCACCA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01517.hp1 HG02257.hp1 others(8): Show HG00733.hp1 HG01517.hp1 HG02257.hp1 HG02922.hp1 HG03209.hp2 HG03654.hp1 HG03710.hp2 HG03927.hp1 HG04184.hp1 NA19043.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0001 a0001c0001t0001 a0001c0016t0001	a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 others(8): Show a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0125 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0016t0001g0062	11	172	0.0640	819	c.135 others(836): Show c.1353+392_1353+393insTGGTGATTATAATGGTGATGACGGTGGT AGAATGATGGTGGTGATGGTGGTGGTGATGGTAGTGAGAATGATGGTGGT GGTGAGGATAATGGTTGTGATGGTGATAGTGATGATTATGATGGTGATGG TGGTAGTGAGAATGATGGTGGTGATGGTGATGGTGATGACGGTGGTAGTG AGAAATGATTATGGTGGTGATGAAGATGGTGATGAAGGTGGTGATGGAGG TAGTGGTGAGGATTGTGGTAATGGTGACAATGAGGATGATGATGGTGGTG ATGACTTGATGGTGATGGTGGTAGTGAGAATGATGGTGGTGATGGTGATG GTGATGACGGTGGTAGTGAGAAAGATGATTATGGTGGTGATGAAGATGGT GATGAAGGTGGTGATGGTGGTAGTGGTGAGGATTGTGGTAATGGTGACAA TGAGGATGATGATGGTGGTGATGACTTGATGGTGATGGTGGTAGTGAGAA TGATGGTGGTGATGATGTTGGTGATTGTGATTATGGTGATGGTGATGGTG GTTGATGGTGACAGTGGTGGTGGTAGTGAGGATGATGGTAGTGATGATGG TTGTGTTGAGGATGATGGTGGTGAGGATGGTGATGAAGATGGTGATGATG TGGTCATGATGGTGGTGAGGATGAAGATGGTGGTGGTGGTAGTGGTGAGG ATTGTGATGGTGAGTGAGATAATGGTGGTGGTAGGGAGGATGATGGTTGT GGTGGTGATGGTGAGGGTGATGGTAGTGATGATGGTTGTGATGCTGATGA GGATGATGATGGTGAAGATGTGGTGAGGATGATGGTGGTGA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	6/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132742761	C C	CTCACCAC others(812): Show CTCACCACCATCATCCTCACCACATCTTCACCATCATCATCCTCATCAGC ATCACAACCATCATCACTACCATCACCCTCACCATCACCACCACAACCAT CATCCTCCCTACCACCACCATTATCTCACTCACCATCACAATCCTCACCA CTACCACCACCACCATCTTCATCCTCACCACCATCATGACCACATCATCA CCATCTTCATCACCATCCTCACCACCATCATCCTCAACACAACCATCATC ACTACCATCATCCTCACTACCACCACCACTGTCACCATCAACCACCATCA CCATCACCATAATCACAATCACCAACATCATCACCACCATCATTCTCACT ACCACCATCACCATCAAGTCATCACCACCATCATCATCCTCATTGTCACC ATTACCACAATCCTCACCACTACCTCCATCACCACCTTCATCACCATCTT CATCACCACCATAATCATCTTTCTCACTACCACCGTCATCACCATCACCA TCACCACCATCATTCTCACTACCACCATCACCATCAAGTCATCACCACCA TCATCATCCTCATTGTCACCATTACCACAATCCTCACCACTACCTCCATC ACCACCTTCATCACCATCTTCATCACCACCATAATCATTTCTCACTACCA CCGTCATCACCATCACCATCACCACCATCATTCTCACTACCACCATCACC ATCATAATCATCACTATCACCATCACAACCATTATCCTCACCACCACCAT CATTCTCACTACCATCACCACCACCATCACCACCATCATTCTACCACCGT CATCACCATTATAATCACCA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	162	0.0062	819	c.135 others(836): Show c.1353+392_1353+393insTGGTGATTATAATGGTGATGACGGTGGT AGAATGATGGTGGTGATGGTGGTGGTGATGGTAGTGAGAATGATGGTGGT GGTGAGGATAATGGTTGTGATGGTGATAGTGATGATTATGATGGTGATGG TGGTAGTGAGAATGATGGTGGTGATGGTGATGGTGATGACGGTGGTAGTG AGAAATGATTATGGTGGTGATGAAGATGGTGATGAAGGTGGTGATGGAGG TAGTGGTGAGGATTGTGGTAATGGTGACAATGAGGATGATGATGGTGGTG ATGACTTGATGGTGATGGTGGTAGTGAGAATGATGGTGGTGATGGTGATG GTGATGACGGTGGTAGTGAGAAAGATGATTATGGTGGTGATGAAGATGGT GATGAAGGTGGTGATGGAGGTAGTGGTGAGGATTGTGGTAATGGTGACAA TGAGGATGATGATGGTGGTGATGACTTGATGGTGATGGTGGTAGTGAGAA TGATGGTGGTGATGATGTTGGTGATTGTGATTATGGTGATGGTGATGGTG GTTGATGGTGACAGTGGTGGTGGTAGTGAGGATGATGGTAGTGATGATGG TTGTGTTGAGGATGATGGTGGTGAGGATGGTGATGAAGATGGTGATGATG TGGTCATGATGGTGGTGAGGATGAAGATGGTGGTGGTGGTAGTGGTGAGG ATTGTGATGGTGAGTGAGATAATGGTGGTGGTAGGGAGGATGATGGTTGT GGTGGTGATGGTGAGGGTGATGGTAGTGATGATGGTTGTGATGCTGATGA GGATGATGATGGTGAAGATGTGGTGAGGATGATGGTGGTGA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	6/12			chr12	TogoVar
ANO3_chr11_26327130_26668289	26396991	C C	CAGACTTC others(812): Show CAGACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAA TGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAG ATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACA ACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGG TGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCT CAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGG GTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACA CGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACC CAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACA CCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTA GGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCACAAGA ACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAA TGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGG TGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCT AGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATA TGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAA TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	168	0.0060	819	c.47- others(836): Show c.47-44924_47-44923insCTTCTCAAAAGAAGACATTTATGCAGCC AAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCA AATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCA TTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGA ACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAA GTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACC CAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGC TATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGC AAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGA AAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGAT GAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCT CAGTAAACTATCACAAGAACAAAAAACCAAACACCGCATATTCTCACTCA TAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATC ACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTG GGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGC ATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACC CTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAGA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26396991	C C	CAGACTTC others(812): Show CAGACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAA TGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAG ATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACA ACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGG TGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCT CAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGG GTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACA CGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACC CAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACA CCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTA GGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGA ACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAA TAAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGG TGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCT AGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATA TGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAA TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0041 a0001c0005t0005g0041	1	168	0.0060	819	c.47- others(836): Show c.47-44924_47-44923insCTTCTCAAAAGAAGACATTTATGCAGCC AAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCA AATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCA TTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGA ACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAA GTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACC CAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGC TATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGC AAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGA AAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGAT GAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCT CAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCA TAGGTGGGAATTGAACAATAAGATCACATGGACACAGGAAGGGGAATATC ACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTG GGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGC ATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACC CTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAGA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26396991	C C	CAGACTTC others(812): Show CAGACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAA TGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAG ATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACA ACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGG TGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCT CAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGG GTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACA CGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACC CAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACA CCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTA GGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGA ACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAA TGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGG TGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCT AGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATA TGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAA TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp1 HG00735.hp2 others(9): Show HG00558.hp2 HG00733.hp1 HG00735.hp2 HG01099.hp2 HG02486.hp2 HG02735.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03017.hp1 NA18949.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0020 a0001c0002t0007 a0001c0003t0002 others(4): Show a0001c0001t0020 a0001c0002t0007 a0001c0003t0002 a0001c0004t0004 a0001c0005t0005 a0001c0006t0005 a0001c0006t0010	a0001c0001t0020g0080 a0001c0002t0007g0083 a0001c0003t0002g0003 others(9): Show a0001c0001t0020g0080 a0001c0002t0007g0083 a0001c0003t0002g0003 a0001c0003t0002g0007 a0001c0004t0004g0016 a0001c0005t0005g0004 a0001c0005t0005g0005 a0001c0005t0005g0006 a0001c0005t0005g0039 a0001c0005t0005g0187 a0001c0006t0005g0042 a0001c0006t0010g0066	12	179	0.0670	819	c.47- others(836): Show c.47-44924_47-44923insCTTCTCAAAAGAAGACATTTATGCAGCC AAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCA AATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCA TTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGA ACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAA GTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACC CAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGC TATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGC AAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGA AAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGAT GAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCT CAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCA TAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATC ACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTG GGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGC ATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACC CTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAGA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASAP2_chr2_9201812_9410678	9400249	T T	TTCCCCTC others(812): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGC CCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCC CTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCC TGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCC CTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTC CTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCCT CCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCC TCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTCCCCTC CTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTG CCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCC TCCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCC TCCCCTTCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCC CCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCC CCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTC CCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCC CTCCTCCCCTCCTGCCCCCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG04199.hp1 HG01074.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0026 a0001c0002t0002g0073 a0001c0002t0002g0026 a0001c0002t0002g0073	2	73	0.0274	819	c.273 others(836): Show c.2734+190_2734+191insCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGC CCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCT CCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCC TGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGC CCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTC CTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCT GCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCC TCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTC CTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTG CCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCC CCCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCTCC TGCCCCCCTCCCCTTCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTC CCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCC CCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCT GCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCC CCCCTCCCCTCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(812): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGG GAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAA GGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAG GGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGG AAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAA GGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGG AAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAG GAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGAAGGGGAAGAAGGA GGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGG GGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	8	0.1250	819	c.-70 others(828): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGG AAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAA GGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGA GGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGG GAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGG AGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAG GAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGA AGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAG GGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(812): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTC GCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0244	1	38	0.0263	819	c.248 others(836): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTT GAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(812): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTC GCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03654.hp1 HG01261.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0228 a0001c0001t0002g0229	2	39	0.0513	819	c.248 others(836): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTT GAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP46_chr10_132803392_132947570	132888564	G G	GCACCCCT others(812): Show GCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCTG CCACCTTCACCCCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCGCC TGCACCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCC CTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCAC CTTCACCCCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTGCA CCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGC CACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTTC ACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCGCCTGCACCTG CCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTG CACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCTGC CACCTTCACCCCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTC ACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTGCACCTG CCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTG CACCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGC AGCCTGCACCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGC ACCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTG CCGCCTGCACCTGCCACCTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0037 a0037	a0037c0064 a0037c0064	a0037c0064t0001 a0037c0064t0001	a0037c0064t0001g0218 a0037c0064t0001g0218	1	103	0.0097	819	c.330 others(838): Show c.3305-2606_3305-2605insAAGGTGGCAGGTGCAGGCGGCAGGGG TGAAGGTGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGC GGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCTGCAGGG GTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCG GCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTG CAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGT GGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCAGGT GCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGCAGGCG GCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTG CAGGCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAGGGGTGAAGGC GGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGG GTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGCAGG CGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCA GGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAGGGGTGC AGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGC AGGGGTGAAGGTGGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCAGGTG CAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(812): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTC CTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCT TCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTC CTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCT CCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0147 a0001c0003t0010g0147	1	2	0.5000	819	c.162 others(840): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCT CTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCC CCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTC CTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCC CTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCC TCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(812): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTC CTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCT TCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTC CTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCT CCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0081 a0001c0003t0081	a0001c0003t0081g0165 a0001c0003t0081g0165	1	2	0.5000	819	c.162 others(840): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCT CTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCC CCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTC CTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCC CTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCC TCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(812): Show CAGTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGAT ATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATGGGGGTGGGGACA GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCG GGGCGGGGGTGCAGTTGATAGATGATATGGGGGTGGGGACAGGGTGCAGT TTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGG TGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTT ATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAG GCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGT GCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGAT AATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGG GGCAGAGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGT TTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATAT GGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp1 HG01167.hp2 others(7): Show HG00280.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01515.hp2 HG01891.hp2 HG03195.hp2 HG03471.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0025 a0001c0026 a0001c0051	a0001c0001t0012 a0001c0003t0001 a0001c0004t0001 others(5): Show a0001c0001t0012 a0001c0003t0001 a0001c0004t0001 a0001c0004t0018 a0001c0011t0001 a0001c0025t0008 a0001c0026t0041 a0001c0051t0007	a0001c0001t0012g0242 a0001c0003t0001g0188 a0001c0003t0001g0206 others(7): Show a0001c0001t0012g0242 a0001c0003t0001g0188 a0001c0003t0001g0206 a0001c0004t0001g0204 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0011t0001g0205 a0001c0025t0008g0202 a0001c0026t0041g0036 a0001c0051t0007g0203	10	22	0.4545	819	c.109 others(838): Show c.109+14824_109+14825insGATATGGGGGTGGGGAAGGGATGCAG TTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATG GGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGCGGGGCGGGGGTGCAGTTGATAGATGATATGGGGGTGGGG ACAGGGTGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTA TAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTG CAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAA TATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCC AGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATA GATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTG GGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTG TACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATA ATATGGGGGCGGGGCAGAGGGTGCAATTTATAGATAATATGAGGGTGGGG CAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTT TATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DLGAP2_chr8_732628_1713476	747763	T T	TGCGGTGG others(812): Show TGCGGTGGGATGGGGGTCTCTGCGGTGGGATGGGGGGCTCTGTGGTGGGA TGGGGGGCTCTGTGGTGGGATGGGCGGGCCTGCGGTGGGATGGGCGGGCC TGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGTGGTGGGA TGGGCGGGCCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGCC TGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGA TGGGCGGGCCTGCGGTGGGATGGGCGGGCCTGCGGTGGGATGGGGGGCTC TGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGA TGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGCC TGCGGTGGGATGGGCGGGCCTGCGGTGGGATGGGGGGCTCTGCGGTGGGA TGGGGGGCTCTGTGGTGGGATGGGCGGGCCTGCGGTGGGATGGGCGGGTC TGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGA TGGGCGGGTCTGCGGTGGGATGGGGGGCTCTGTGGTGGGATGGGCGGGCC TGCGGTGGGATGGGGGGGCTCTGTGGTGGGATGGGGGGCTCTGCGGTGGG ATGGGGGGCTCTGTGGTGGGATGGGCGGGCCTGCGGTGGGATGGGCGGGT CTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGG ATGGGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGC CTGCGGTGGGATGGGCGGGC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0021 a0002c0001t0003g0021	1	33	0.0303	819	c.18+ others(834): Show c.18+9938_18+9939insGCGGTGGGATGGGGGTCTCTGCGGTGGGAT GGGGGGCTCTGTGGTGGGATGGGGGGCTCTGTGGTGGGATGGGCGGGCCT GCGGTGGGATGGGCGGGCCTGCGGTGGGATGGGGGGCTCTGCGGTGGGAT GGGGGGCTCTGTGGTGGGATGGGCGGGCCTGCGGTGGGATGGGCGGGTCT GCGGTGGGATGGGCGGGCCTGCGGTGGGATGGGCGGGTCTGCGGTGGGAT GGGCGGGTCTGCGGTGGGATGGGCGGGCCTGCGGTGGGATGGGCGGGCCT GCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGAT GGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCT GCGGTGGGATGGGCGGGCCTGCGGTGGGATGGGCGGGCCTGCGGTGGGAT GGGGGGCTCTGCGGTGGGATGGGGGGCTCTGTGGTGGGATGGGCGGGCCT GCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGAT GGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGGCTCT GTGGTGGGATGGGCGGGCCTGCGGTGGGATGGGGGGGCTCTGTGGTGGGA TGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGTGGTGGGATGGGCGGGCC TGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGA TGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGGCTC TGCGGTGGGATGGGCGGGCCTGCGGTGGGATGGGCGGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1337420	A A	ATGATGGT others(812): Show ATGATGGTGATGATGATGGTGATGGTGATGATGTTGATGGTGATGATGGT GATGATGTTGATGGTGATGATGGTGATGGTGAGAATGATGGGGATGAGGA TGATAGTGGTGATGAGGATGGCGATGGTGATGCTGATGATAGTGATGATG GTGCTGGTGATGATGATGGTGATGGTGATGATGGTAAGGATGATGGGAAA GAGAATGATATTGGTGATGAGGATGGTGATGGTGATGCTGATGACAGTGA TGATGGTGATGATGAGGATGATGGTGATGATGATGATGGTGATGCTGATG ATGGTGATGGTGAGGATGATGGTGATGGTGAGAATGATGGTGATGATGTG ACGGTGAGGATGATGGTGGTAGTGAGGATGATGGTGAGAATGATGGTGAG GAAGATGGTGGTGAGGATAATGGTGATGGTGAGAATGATGGTGAGGATGA TGGTGGTGAGGATAATGGTGATGGTGAGGATGATGACGGTGAGAATGATG ATGGTGATGGTGAGGATGATGGTAGTGAGGATGATAATGGTGAGAATGAC GGTGAGGGTGATGGTGGTGAGGATAATGGTGATGGTGAGGATGATGACAG TGAGGATGATGATGATGGTGAGGATGATGGTGGTGAGGATAATGGTGATG ATGAGGATGATGGTGGTGAGGATAATGGTGATGGTGAGGATGATGACGGT GAGAATGAAGATGATGGTGATGGTGACGATGATGGTGGTAGTGAGGGTGA TGATGGTGAGAATTATGGTGAGGATGATGGTGGTGAGGATGGTGATGGTG ATGCTGATGACTGATGATGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02698.hp2 HG03516.hp2 HG01496.hp1 HG02698.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0001 a0002c0004t0003 a0002c0004t0018 a0001c0003t0001 a0002c0004t0003 a0002c0004t0018	a0001c0003t0001g0026 a0002c0004t0003g0009 a0002c0004t0018g0010 a0001c0003t0001g0026 a0002c0004t0003g0009 a0002c0004t0018g0010	3	32	0.0938	819	c.106 others(838): Show c.106+78548_106+78549insATGATGGTGATGGTGATGATGTTGAT GGTGATGATGGTGATGATGTTGATGGTGATGATGGTGATGGTGAGAATGA TGGGGATGAGGATGATAGTGGTGATGAGGATGGCGATGGTGATGCTGATG ATAGTGATGATGGTGCTGGTGATGATGATGGTGATGGTGATGATGGTAAG GATGATGGGAAAGAGAATGATATTGGTGATGAGGATGGTGATGGTGATGC TGATGACAGTGATGATGGTGATGATGAGGATGATGGTGATGATGATGATG GTGATGCTGATGATGGTGATGGTGAGGATGATGGTGATGGTGAGAATGAT GGTGATGATGTGACGGTGAGGATGATGGTGGTAGTGAGGATGATGGTGAG AATGATGGTGAGGAAGATGGTGGTGAGGATAATGGTGATGGTGAGAATGA TGGTGAGGATGATGGTGGTGAGGATAATGGTGATGGTGAGGATGATGACG GTGAGAATGATGATGGTGATGGTGAGGATGATGGTAGTGAGGATGATAAT GGTGAGAATGACGGTGAGGGTGATGGTGGTGAGGATAATGGTGATGGTGA GGATGATGACAGTGAGGATGATGATGATGGTGAGGATGATGGTGGTGAGG ATAATGGTGATGATGAGGATGATGGTGGTGAGGATAATGGTGATGGTGAG GATGATGACGGTGAGAATGAAGATGATGGTGATGGTGACGATGATGGTGG TAGTGAGGGTGATGATGGTGAGAATTATGGTGAGGATGATGGTGGTGAGG ATGGTGATGGTGATGCTGATGACTGATGATGTTGATGGTGATG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
EXD3_chr9_137301896_137428162	137327636	A A	ACCCATAT others(812): Show ACCCATATGATGAGTAAAACAACTAATATACTCCCATATGCTGAGTAAAA CAACTAATATACTCCTATATGATGAGTAAAAACAACTAATATACACCCAT ATGATGAGTAAAACAACTAATATACTCCCATATGATGAGTAAAAACAACG AATAAACACCCACATGATGAGTAAAAACAACTAACATACTCCCATATGAT GAGTAAAAACAACTAATATACACCCATATGATGAGTAAAAACAACGAATA AACACCGACATGATGAGTAAAAACAACTAATATACACCAATATGATGAGT AAAACAATTAATATACTCCCATATGATGAGTAAAAACAACAAATATACAC CCACATGATGAGTAAAAACAACAAATAAACACCCACATGATGAGTAAAAA CAACGAACAAACACCCACGTGATGAGTAAAAACAACTAATATACACCCAT ATCATGAGTAAAAACAACTAATATACTCCCATATGATGAGTAAAAACAAC TAATATACACCCACATGATGAGTAAAAACAACGAATAAACACCCACATGA TGAGTAAAAACAATGAATATACACCCACATGAGTAAAAACAACTAATATA CTCCCATATGACGAGTAAAAACAACGAATATACACCCACATGATGAGTAA AAACAACAAACACCCACATGATGAGTAAAAACAACTAATATACTCCCACA TGATGAGTAAAAACAACTAATATACTCCCATATGATGAGTAAAAACAACT AATATACACCCACATGATGAGTAAAACAACTAATATACTCCCATATAATG AGTAAAACAACTAATATACT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0030 a0030	a0030c0026 a0030c0026	a0030c0026t0001 a0030c0026t0001	a0030c0026t0001g0033 a0030c0026t0001g0033	1	80	0.0125	819	c.199 others(838): Show c.1999-3494_1999-3493insAGTATATTAGTTGTTTTACTCATTAT ATGGGAGTATATTAGTTGTTTTACTCATCATGTGGGTGTATATTAGTTGT TTTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTCATCATGTGGG AGTATATTAGTTGTTTTTACTCATCATGTGGGTGTTTGTTGTTTTTACTC ATCATGTGGGTGTATATTCGTTGTTTTTACTCGTCATATGGGAGTATATT AGTTGTTTTTACTCATGTGGGTGTATATTCATTGTTTTTACTCATCATGT GGGTGTTTATTCGTTGTTTTTACTCATCATGTGGGTGTATATTAGTTGTT TTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTCATGATATGGGT GTATATTAGTTGTTTTTACTCATCACGTGGGTGTTTGTTCGTTGTTTTTA CTCATCATGTGGGTGTTTATTTGTTGTTTTTACTCATCATGTGGGTGTAT ATTTGTTGTTTTTACTCATCATATGGGAGTATATTAATTGTTTTACTCAT CATATTGGTGTATATTAGTTGTTTTTACTCATCATGTCGGTGTTTATTCG TTGTTTTTACTCATCATATGGGTGTATATTAGTTGTTTTTACTCATCATA TGGGAGTATGTTAGTTGTTTTTACTCATCATGTGGGTGTTTATTCGTTGT TTTTACTCATCATATGGGAGTATATTAGTTGTTTTACTCATCATATGGGT GTATATTAGTTGTTTTTACTCATCATATAGGAGTATATTAGTTGTTTTAC TCAGCATATGGGAGTATATTAGTTGTTTTACTCATCATATGGG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FBXO47_chr17_38931432_38972403	38946641	T T	TATATATA others(812): Show TATATATAAATATATAAATATATATGAATATATAAATATATATAAATATA TAAATATATAAATAAAAATATATAAAAATATATACATATATAAATATAAA TATATAATATATAAATATATAAATATAAATATATAAAAATATATAAATAT ATAAAAATATATAAATATATAAAAATATATAAATATATAAATATATATAA ATATATAAATATATAAATATATAAATATATATAAATATATAAATATATAA ATATATAAATATATATAAATATATAAATATATAAATATATAAAAATATAT AAATACATAAATATATAAATATATAAATATATAAATATATAAATATATAT AAGTACATATAAATATATATACATAAATATATAAATATATAAATATATAA ATATATAAATACATAATATATATAAATATAAAATATATATAATATATAAA ATATATTAAAAATATAAAAATATATATAAAAAAATATATAAATATATAAA AATATATAAAAAATATATACACATATAAATATATATAAAAAATATATAAA TATATAAAAAAATATATAAATATATATTATATATAAATATATATAAATAT ATAAATATATATAAATATATACAATATATAAATATATATAAATATATACA ATATATAAATATATATAAATATATACAATATATAAATATATATAAATATA TACAATATATAAATATATAAAAATATATACAATATATAAATATATATAAA TATATATAATATATAAATATATATAAATATATAAATATATATAAATATAT ATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	338	0.0030	819	c.617 others(836): Show c.617-1506_617-1505insTATATATATTTATATATTATATATATTT ATATATATTTATATATTTATATATATTTATATATTATATATATTTATATA TATTTATATATTGTATATATTTTTATATATTTATATATTGTATATATTTA TATATATTTATATATTGTATATATTTATATATATTTATATATTGTATATA TTTATATATATTTATATATTGTATATATTTATATATATTTATATATTTAT ATATATTTATATATAATATATATTTATATATTTTTTTATATATTTATATA TTTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTATATA TTTATATATTTTTTTATATATATTTTTATATTTTTAATATATTTTATATA TTATATATATTTTATATTTATATATATTATGTATTTATATATTTATATAT TTATATATTTATATATTTATGTATATATATTTATATGTACTTATATATAT TTATATATTTATATATTTATATATTTATATATTTATGTATTTATATATTT TTATATATTTATATATTTATATATTTATATATATTTATATATTTATATAT TTATATATTTATATATATTTATATATTTATATATTTATATATTTATATAT ATTTATATATTTATATATTTTTATATATTTATATATTTTTATATATTTAT ATATTTTTATATATTTATATTTATATATTTATATATTATATATTTATATT TATATATGTATATATTTTTATATATTTTTATTTATATATTTATATATTTA TATATATTTATATATTCATATATATTTATATATTTATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(812): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATATAAATATATAAAT ATATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAA ATACATAAATATATAAATATATAAATATATAAATATATAAATATATATAA GTACATATAAATATATATACATAAATATATAAATATATAAATATATAAAT ATATAAATACATAATATATATAAATATAAAATATATATAATATATAAAAT ATATTAAAAATATAAAAATATATATAAAAAATATATAAATATATAAAAAT ATATAAAAAATATATACACATATAAATATATATAAAAATATATAAATATA TATAAAAATATATAAATATATATTATATATAAATATATAATATATAAATA TATATAAATATATAAATATATATAAATATATACAATATATAAATATATAT AAATATATACAATATATAAATATATATATACAATATATAAATATATATAA ATATATACAATATATAAATATATATAAATATATACAATATATAAATATAT ATAAATATATACAATATATAAATATATATAAATATATACAATATATAAAT ATATATAAATATATAAATATATATAAATATATATAATATATAAATATATA AAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	12	0.0833	819	c.617 others(836): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATATATTTATGTATATATATTTATATGTACTTATATAT ATTTATATATTTATATATTTATATATTTATATATTTATGTATTTATATAT TTTTATATATTTATATATTTATATATTTATATATATTTATATATTTATAT ATTTATATATATTTATATATATTTATATATTTATATATTTTTATATATTT ATATATTTTTATATATTTATATTTATATATTTATATATTTATATATTTAT ATATTATATATTTATATTTATATATGTATATATTTTTATATATTTTTATT TATATATTTATATATTTATATATATTTATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(812): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATATAAATATATAAAT ATATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAA ATACATAAATATATAAATATATAAATATATAAATATATAAATATATATAA GTACATATAAATATATATACATAAATATATAAATATATAAATATATAAAT ATATAAATACATAATATATATAAATATAAAATATATATAATATATAAAAT ATATTAAAAATATAAAAATATATATAAAAAATATATAAATATATAAAAAT ATATAAAAAATATATACACATATAAATATATATAAAAATATATAAATATA TATAAAAATATATAAATATATATTATATATAAATATATAATATATAAATA TATATAAATATATAAATATATATAAATATATACAATATATAAATATATAT AAATATATACAATATATAAATATATATATACAATATATAAATATATATAA ATATATACAATATATAAATATATATAAATATATACAATATATAAATATAT ATAAATATATACAATATATAAATATATATAAATATATATAATATATAAAT ATATATAAATATATAAATATATATAAATATATATAATATATAAATATATA AAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00741.hp2 others(19): Show HG00140.hp1 HG00609.hp1 HG00741.hp2 HG01074.hp1 HG01192.hp1 HG01192.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG02129.hp2 HG02132.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02735.hp2 HG02809.hp1 HG03492.hp2 HG03831.hp1 NA18953.hp2 NA18960.hp1 NA19056.hp1 NA19074.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0002 a0005c0004 others(1): Show a0001c0001 a0002c0002 a0005c0004 a0006c0006	a0001c0001t0001 a0001c0001t0012 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0012 a0002c0002t0001 a0005c0004t0001 a0006c0006t0001	a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0080 others(19): Show a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0334 a0001c0001t0012g0033 a0002c0002t0001g0050 a0002c0002t0001g0096 a0002c0002t0001g0115 a0005c0004t0001g0031 a0005c0004t0001g0127 a0006c0006t0001g0041	22	33	0.6667	819	c.617 others(836): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATATATTTATGTATATATATTTATATGTACTTATATAT ATTTATATATTTATATATTTATATATTTATATATTTATGTATTTATATAT TTTTATATATTTATATATTTATATATTTATATATATTTATATATTTATAT ATTTATATATATTTATATATATTTATATATTTATATATTTTTATATATTT ATATATTTTTATATATTTATATTTATATATTTATATATTTATATATTTAT ATATTATATATTTATATTTATATATGTATATATTTTTATATATTTTTATT TATATATTTATATATTTATATATATTTATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(812): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAACTATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATATAAATATATAAAT ATATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAA ATACATAAATATATAAATATATAAATATATAAATATATAAATATATATAA GTACATATAAATATATATACATAAATATATAAATATATAAATATATAAAT ATATAAATACATAATATATATAAATATAAAATATATATAATATATAAAAT ATATTAAAAATATAAAAATATATATAAAAAATATATAAATATATAAAAAT ATATAAAAAATATATACACATATAAATATATATAAAAATATATAAATATA TATAAAAATATATAAATATATATTATATATAAATATATAATATATAAATA TATATAAATATATAAATATATATAAATATATACAATATATAAATATATAT AAATATATACAATATATAAATATATATATACAATATATAAATATATATAA ATATATACAATATATAAATATATATAAATATATACAATATATAAATATAT ATAAATATATACAATATATAAATATATATAAATATATATAATATATAAAT ATATATAAATATATAAATATATATAAATATATATAATATATAAATATATA AAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	12	0.0833	819	c.617 others(836): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATATATTTATGTATATATATTTATATGTACTTATATAT ATTTATATATTTATATATTTATATATTTATATATTTATGTATTTATATAT TTTTATATATTTATATATTTATATATTTATATATATTTATATATTTATAT ATTTATATATATTTATATATATTTATATATTTATATATTTTTATATATTT ATATATTTTTATATATTTATATTTATATAGTTATATATTTATATATTTAT ATATTATATATTTATATTTATATATGTATATATTTTTATATATTTTTATT TATATATTTATATATTTATATATATTTATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
GALR1_chr18_77244848_77282900	77252911	C C	CCACCACC others(812): Show CCACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAT CACCACCATCACCACCATCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAC CACCATCACCACCACCATCACCACCACCACCACCACCACCACCACCATCA CCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACC ATCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0029 a0001c0004t0029	a0001c0004t0029g0320 a0001c0004t0029g0320	1	341	0.0029	819	c.666 others(836): Show c.666+1705_666+1706insTCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCATCACCACCATCACCACCATCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCACC ACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCAC CATCACCACCACCATCACCACCACCACCACCATCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GDF2_chr10_47317454_47332588	47328693	C C	CCTGGGGT others(812): Show CCTGGGGTGAGTGATGTGATGTGCACACTGGGGTGAGTGATGTGTGTGCA CCCTGGGGTGAGTGATGCGGTGTGTGCACACTGGAGTGAGTGATGTGATG TGCACACTGGGGTGAGTGATGTGTGTGCACACGGGGGTGAGTGATTCAGT GTGTGCACCCTGGGGTGAGTGATGCGGTGTGTGCACACTGGGGTGAGTGA CGTGCTGTGTGCACACTGAGGGGGGTGAGTGACGTGGTGTGTGCACACTG GGGTGAGTGATGTGGTGTGTGCACACTGGGGTGAGTGACGTGGTGTGTGC ACACTGAGGGGGGTGAGTGATGTGGTGTGTGCACCCTGGGGTGAGTGATG CGGTGTGTGCACCCTGGGGTGAGTGATGCGGTGTGTGCACACTGAGGGGG TGAGTGATGCGGTGTGTGCACATTGGGGTGAGTGATGTGGTGTGTGCACA CTGAGGGGGATGAGTGATGTGTGTGCACACTGGGGTGAGTGATGCAGTGT GTGCACACTGGGGTGAGTGATGTGGTGTGTGCACCCTGGGGTGAGTGATG CAGTGTGTGCACCGTGGGGTGAGTGATGCGGTGTGTGCACACTGGGGTGA GTGACGTGGTGTGTGCACACAGAGGGGGGTGAGTGATGTGTGTGCACACT GGGGTGAGTGACGTGGTGTGTGCACACTGAGGGGGGTGAGTGATGTAGTG TGTGCACACTGGGGTGAGTGATGCGGTGTGTGCACCCTGGGGTGAGTGAT GCGGTGTGTGCACACTGGGGTGAGTGATGCGGTGTGTGCACCCTGGGATG AGTGATGCGGTGTGTGCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02717.hp1 HG03098.hp1 others(1): Show HG02257.hp2 HG02717.hp1 HG03098.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0028 a0002c0002t0015 a0001c0001t0028 a0002c0002t0015	a0001c0001t0028g0010 a0002c0002t0015g0014 a0001c0001t0028g0010 a0002c0002t0015g0014	4	421	0.0095	819	c.29 others(830): Show c.2909_*2910insCTGGGGTGAGTGATGTGATGTGCACACTGGGGTG AGTGATGTGTGTGCACCCTGGGGTGAGTGATGCGGTGTGTGCACACTGGA GTGAGTGATGTGATGTGCACACTGGGGTGAGTGATGTGTGTGCACACGGG GGTGAGTGATTCAGTGTGTGCACCCTGGGGTGAGTGATGCGGTGTGTGCA CACTGGGGTGAGTGACGTGCTGTGTGCACACTGAGGGGGGTGAGTGACGT GGTGTGTGCACACTGGGGTGAGTGATGTGGTGTGTGCACACTGGGGTGAG TGACGTGGTGTGTGCACACTGAGGGGGGTGAGTGATGTGGTGTGTGCACC CTGGGGTGAGTGATGCGGTGTGTGCACCCTGGGGTGAGTGATGCGGTGTG TGCACACTGAGGGGGTGAGTGATGCGGTGTGTGCACATTGGGGTGAGTGA TGTGGTGTGTGCACACTGAGGGGGATGAGTGATGTGTGTGCACACTGGGG TGAGTGATGCAGTGTGTGCACACTGGGGTGAGTGATGTGGTGTGTGCACC CTGGGGTGAGTGATGCAGTGTGTGCACCGTGGGGTGAGTGATGCGGTGTG TGCACACTGGGGTGAGTGACGTGGTGTGTGCACACAGAGGGGGGTGAGTG ATGTGTGTGCACACTGGGGTGAGTGACGTGGTGTGTGCACACTGAGGGGG GTGAGTGATGTAGTGTGTGCACACTGGGGTGAGTGATGCGGTGTGTGCAC CCTGGGGTGAGTGATGCGGTGTGTGCACACTGGGGTGAGTGATGCGGTGT GTGCACCCTGGGATGAGTGATGCGGTGTGTGCACA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		1106		chr10	TogoVar
GLT1D1_chr12_128848478_128989968	128866235	A A	ATTTTTTA others(812): Show ATTTTTTATATTTTTTTTTTTTTTTTTTTGAGTTTCAGGAGCAGAAAGTT TAATAGACAAAAGACAGAAGAGAGAGAGGGAGAGAGAGAGCTTCCTCCTG CGGAGAAAGTGGGTCACCATAGCAGGTTTCCAGGTTTGGGGCAGAATGTG ATCAATTTTATAGAGAGGCTTGAGGAGGCAGTGATTGATTTATATATGTC CCAGGAAATTGGTTTGACCAGGTGTGGCATTTACATAGCACACGAGGAAA CTGGCCCTCCCACACTAATCTTATTATGCAAATGTGGACACCCACATGCA TGGTGACAAAGTAAAGGGAGAGGGAATCGCCACTTTGAGTGTACTTGGCT TTTAGTATAGCTGCTGGCATTTACATATGCAAACTTCCAGCTTGCTTATC TATGCTTGCAGTTTGACTTTTCAGGCTGCTTTCTTTTAGAAAAGAGATGG TTTTTTGGCTGCTTTTCATTGAAGGAAAATTCCACCGAGAACTCTTTTAC CCTTGCTAACTGCCTAAAATATATATATATATATTTTTTTATTATACTCT AAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATAC ATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGG TATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCC CCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAAT TCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTTGTTCTTGCGA TAGTTTACTGAGAATGATGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp1 HG02622.hp2 HG02896.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0004 a0003c0005t0002 a0003c0005t0004	a0003c0005t0002g0318 a0003c0005t0004g0316 a0003c0005t0002g0318 a0003c0005t0004g0316	2	304	0.0066	819	c.69- others(834): Show c.69-9664_69-9663insTTTTTTTTTTTTTGAGTTTCAGGAGCAGAA AGTTTAATAGACAAAAGACAGAAGAGAGAGAGGGAGAGAGAGAGCTTCCT CCTGCGGAGAAAGTGGGTCACCATAGCAGGTTTCCAGGTTTGGGGCAGAA TGTGATCAATTTTATAGAGAGGCTTGAGGAGGCAGTGATTGATTTATATA TGTCCCAGGAAATTGGTTTGACCAGGTGTGGCATTTACATAGCACACGAG GAAACTGGCCCTCCCACACTAATCTTATTATGCAAATGTGGACACCCACA TGCATGGTGACAAAGTAAAGGGAGAGGGAATCGCCACTTTGAGTGTACTT GGCTTTTAGTATAGCTGCTGGCATTTACATATGCAAACTTCCAGCTTGCT TATCTATGCTTGCAGTTTGACTTTTCAGGCTGCTTTCTTTTAGAAAAGAG ATGGTTTTTTGGCTGCTTTTCATTGAAGGAAAATTCCACCGAGAACTCTT TTACCCTTGCTAACTGCCTAAAATATATATATATATATTTTTTTATTATA CTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGT ATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCAT TAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACA GTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTT CAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTTGTTCTT GCGATAGTTTACTGAGAATGATGGTTTTTTATATTTTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128866235	A A	ATTTTTTA others(812): Show ATTTTTTATATTTTTTTTTTTTTTTTTTTGAGTTTCAGGAGCAGAAAGTT TAATAGACAAAAGACAGAAGAGAGAGAGGGAGAGAGAGAGCTTCCTCCTG CGGAGAAAGTGGGTCACCATAGCAGGTTTCCAGGTTTGGGGCAGAATGTG ATCAATTTTATAGAGAGGCTTGAGGAGGCAGTGATTGATTTATATATGTC CCAGGAAATTGGTTTGACCAGGTGTGGCATTTACATAGCACACGAGGAAA CTGGCCCTCCCACACTAATCTTATTATGCAAATGTGGACACCCACATGCA TGGTGACAAAGTAAAGGGAGAGGGAATCGCCACTTTGAGTGTACTTGGCT TTTAGTATAGCTGCTGGCATTTACATATGCAAACTTCCAGCTTGCTTATC TATGCTTGCAGTTTGACTTTTCAGGCTGCTTTCTTTTAGAAAAGAGATGG TTTTTTGGCTGCTTTTCATTGAAGGAAAATTCCACCGAGAACTCTTTTAC CCTTGCTAACTGCCTAAAATATATATATATATTTTTTTTTATTATACTCT AAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATAC ATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGG TATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCC CCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAAT TCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTTGTTCTTGCGA TAGTTTACTGAGAATGATGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2	a0003 a0010 a0003 a0010	a0003c0005 a0010c0011 a0003c0005 a0010c0011	a0003c0005t0001 a0003c0005t0004 a0010c0011t0004 a0003c0005t0001 a0003c0005t0004 a0010c0011t0004	a0003c0005t0001g0088 a0003c0005t0004g0043 a0010c0011t0004g0139 a0003c0005t0001g0088 a0003c0005t0004g0043 a0010c0011t0004g0139	3	305	0.0098	819	c.69- others(834): Show c.69-9664_69-9663insTTTTTTTTTTTTTGAGTTTCAGGAGCAGAA AGTTTAATAGACAAAAGACAGAAGAGAGAGAGGGAGAGAGAGAGCTTCCT CCTGCGGAGAAAGTGGGTCACCATAGCAGGTTTCCAGGTTTGGGGCAGAA TGTGATCAATTTTATAGAGAGGCTTGAGGAGGCAGTGATTGATTTATATA TGTCCCAGGAAATTGGTTTGACCAGGTGTGGCATTTACATAGCACACGAG GAAACTGGCCCTCCCACACTAATCTTATTATGCAAATGTGGACACCCACA TGCATGGTGACAAAGTAAAGGGAGAGGGAATCGCCACTTTGAGTGTACTT GGCTTTTAGTATAGCTGCTGGCATTTACATATGCAAACTTCCAGCTTGCT TATCTATGCTTGCAGTTTGACTTTTCAGGCTGCTTTCTTTTAGAAAAGAG ATGGTTTTTTGGCTGCTTTTCATTGAAGGAAAATTCCACCGAGAACTCTT TTACCCTTGCTAACTGCCTAAAATATATATATATATTTTTTTTTATTATA CTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGT ATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCAT TAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACA GTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTT CAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTTGTTCTT GCGATAGTTTACTGAGAATGATGGTTTTTTATATTTTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GPR35_chr2_240620480_240638159	240626062	G G	GGGGTCTC others(812): Show GGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGAGGGGTGA GGCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGA GCGGGGTGAGGCTGTGATGGGTTCTCAGAGCGGGGTGAGGCTATGACGGG GTCTCAGAGCGGGGTGAGTCTCTGACGGGGTCTCAGAGCGGGGTGAGGCT CTGACGGGGTCTCAGAGCGGGGCGAGGCTCTGACGGGGTCTCAGAGCGGG GCGAGGCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTC AGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGTGGGGTGAGGCTCTGAT GGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGTCTCAGAGTGGGGTGAG GCTGTGATGGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGA GTGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCTCTGATGG GGTCTCAGAGCGGGGCGAGGCTGTGAGGGGTTCTCAGAGCGGGGCGAGGC TGTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGG GGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCT CAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGTGAGGCTCTGA CGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGGTCTCAGAGCGGGGTG AGGCTGTGATGGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCA GAGTGGGGTGAGGCTCTGAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03831.hp2 HG02602.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0086 a0001c0001t0002g0087	2	271	0.0074	819	c.-5+ others(832): Show c.-5+497_-5+498insTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTC TCAGAGAGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCTCT GATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGTTCTCAGAGCGGGGT GAGGCTATGACGGGGTCTCAGAGCGGGGTGAGTCTCTGACGGGGTCTCAG AGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTCTGACGG GGTCTCAGAGCGGGGCGAGGCTCTGACGGGGTCTCAGAGCGGGGCGAGGC TGTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGTGG GGTGAGGCTCTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGTCT CAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAGGCTGTG ATGGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGG TGAAGCTCTGATGGGGTCTCAGAGCGGGGCGAGGCTGTGAGGGGTTCTCA GAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACG GGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCGAGG CTGTGACGGGGTCTCAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCG GGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGGT CTCAGAGCGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAGGCTG TGATGGGGGTCTCAGAGTGGGGTGAGGCTCTGACGGG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33322586	T T	TATGGAAT others(812): Show TATGGAATATATACATGGAATATATATATATGGAATATATACATGGAATA TATATATATGGAATATATACATGGAATATATATATATGGAATATATACAT GGAATATATATATATGGAATATATATATGGAATATATACATGGAATATAT ACATGGAATATATACATGGAATATATACATGGAACATATATATATGGAAC ATATACGGAATATATATATGGAATATATATACGGAATATATATATATATG GAATATATATACGGAATATATATATGGAATATATATACGGAATATATATA TATGGAATATATATACGGAATATATATATGGAATATATATACGGAATATA TATATGGAATATATATACGGAATATGTATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATATATGG TATATATATATGGAATATATATATATGGTATATATATATGGAATATATAT ATGGAATATATATATATGGTATATATATATGGAATATATATATATGGAAT ACAAATATACGGAATATATATATGGAATACATATATACGGAATATATATA TACGGAATACATATATACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	209	0.0048	819	c.-24 others(830): Show c.-2470_-2469insATGGAATATATACATGGAATATATATATATGGAA TATATACATGGAATATATATATATGGAATATATACATGGAATATATATAT ATGGAATATATACATGGAATATATATATATGGAATATATATATGGAATAT ATACATGGAATATATACATGGAATATATACATGGAATATATACATGGAAC ATATATATATGGAACATATACGGAATATATATATGGAATATATATACGGA ATATATATATATATGGAATATATATACGGAATATATATATGGAATATATA TACGGAATATATATATATGGAATATATATACGGAATATATATATGGAATA TATATACGGAATATATATATGGAATATATATACGGAATATGTATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGTATATATATATGGAATATATATATATGGTATATAT ATATGGAATATATATATGGAATATATATATATGGTATATATATATGGAAT ATATATATATGGAATACAAATATACGGAATATATATATGGAATACATATA TACGGAATATATATATACGGAATACATATATACGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2383		chr21	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGGTCAGC others(812): Show GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCA GCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCA GCCGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGC CGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGC CGGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCAC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCCG CCCGGGAGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0002 a0008c0021t0002	a0008c0021t0002g0316 a0008c0021t0002g0316	1	205	0.0049	819	c.369 others(836): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGG CCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCG GACGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGG CGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG TGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGG CTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TTCCCCTC others(812): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGC CCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCC CTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCC TGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCC CTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTC CTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCCT CCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCC TCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTCCCCTC CTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTG CCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCC TCCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCC TCCCCTTCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCC CCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCC CCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTC CCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCC CTCCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01074.hp1 HG04199.hp1 HG00099.hp2 HG01074.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0005 a0001c0001t0006g0009 a0001c0001t0003g0005 a0001c0001t0006g0009	3	126	0.0238	819	c.65 others(830): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGG TACAGGAGGGGAGGGGGGCAGGAGGGCAGAAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAGGGGGCAGGAGGGAAGGTGGGCAGGAGGGGAGGGGGGCAG GAGGGCAGGAGGGGAAGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAG GGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGAGGGC AGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAG GGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGCAGGAGG GGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGG AGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGA GGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGG GAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGA AGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGA GGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGG GGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
KDM2B_chr12_121424096_121586023	121514923	C C	CCCAATCA others(812): Show CCCAATCACACTCCCCATCCCCTCTAATCACACTCCCCACCCCCAATCAC ACTCCCCACCCCCCAATCACACTCCCCACCCCCTCTAATCACACTCCCCA CCCCCCAATCACACTCCTCACCCCCTCTAATCACACTCCCCATCCCCTAA TCACACTCCCCACCCCAATCACACTCCCCATCCCCTCTAATCACACTCCC CACCCCCAATCACACTCCCCACCCCCCAATCACACTCCTCACCCCCTCTA ATCACACTCCCCACCCCCTAATCACACTCCCCACCCCAATCACACTCCCC ATCCCCTCTAATCACACTCCCCACCCCAATCACACTCCCCACCCCCCAAT CACACTCCCCACCCCCTCTAATCACACTCCCCACCCCCTAATCACACTCC CCACCCCAATCACACTCTCCATCCCCTCTAATCACACTCCCCACCCCCAA TCACACTCCCCACCCCCTCTAATCACACTCCCCACCCCCTAATCACACTC CCCACCCCAATCACACTCCCCATCCCCTCTAATCACACTCCCCACCCCCA ATCACACTCCCCACCCCCCACACTCCTCACCCCCTCTAATCACACTCCCC ACCCCCTAATCACACTCCCCACCCCAATCACACTCCCCATCCCCTCTAAT CACACTCCCCACCCCCAATCACACTCCCCACCCCCTCTAATCACACTCCC CACCCCCCAATCACAGTCCCCATCCCCCAATCACACTCCCCATCCCCCCA TCACTCCCCACCCCCAATCACATTCCCCATCCCCCGAATCACACCCCCCA CCCCCTAATCACACTCCCCA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0076	1	265	0.0038	819	c.104 others(838): Show c.1048-1522_1048-1521insTGGGGAGTGTGATTAGGGGGTGGGGG GTGTGATTCGGGGGATGGGGAATGTGATTGGGGGTGGGGAGTGATGGGGG GATGGGGAGTGTGATTGGGGGATGGGGACTGTGATTGGGGGGTGGGGAGT GTGATTAGAGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATTAGA GGGGATGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGGGGGTGGGGAG TGTGATTAGAGGGGGTGAGGAGTGTGGGGGGTGGGGAGTGTGATTGGGGG TGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGGGGAGTGT GATTAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTGGGG GTGGGGAGTGTGATTAGAGGGGATGGAGAGTGTGATTGGGGTGGGGAGTG TGATTAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTGGG GGGTGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGAGGGGATGGGGAG TGTGATTGGGGTGGGGAGTGTGATTAGGGGGTGGGGAGTGTGATTAGAGG GGGTGAGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGT GTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGGG GATGGGGAGTGTGATTAGAGGGGGTGAGGAGTGTGATTGGGGGGTGGGGA GTGTGATTAGAGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATT GGGGGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGG	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	9/22			chr12	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(812): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGA AGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAGGAGG GAGGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCAG GAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGGG AGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGG GAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAA GAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGGA AGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGG GAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAG GGAGGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGA GGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGG AAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAG AAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAA GGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGG AGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGG GAAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp1 HG03139.hp2 NA18906.hp1	a0007 a0007	a0007c0007 a0007c0017 a0007c0007 a0007c0017	a0007c0007t0002 a0007c0017t0007 a0007c0007t0002 a0007c0017t0007	a0007c0007t0002g0009 a0007c0017t0007g0025 a0007c0007t0002g0009 a0007c0017t0007g0025	2	9	0.2222	819	c.507 others(838): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGAAGGG AGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGA AGAAGGGAGGAAGGGAAGGAGGGAGGTGGAAGGAAGGAAGGAAAAGAAGG AAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAGA AAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAA AGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGG AAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAG GAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGA GGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGA AAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGGAAG AAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGA GGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGG AGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGAAGG AAGGAACAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGGAGGGAGGAAG GAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGA AGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA5_chr20_62304065_62372312	62349805	T T	TGGTGGGG others(812): Show TGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGGTGATGACGGTG ATGGTGGGGGTGATGACGATGATGGTGGGGGTGATGACGGTGATGGCGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGGGGGTGATGATGGTGATGGTGGGGGTGAT GATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGG TAATGACGGTGGGGTGGGGGTAATGACGGTGGGGGTGGGGGTGATGACGG TGGGGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGATG ATGGTGGGGGTGATGATGGTGATGGCGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGA GGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGA TGATGGTGATGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTG ATGGTGGGGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0095 a0095	a0095c0103 a0095c0103	a0095c0103t0001 a0095c0103t0001	a0095c0103t0001g0131 a0095c0103t0001g0131	1	136	0.0074	819	c.956 others(836): Show c.956+1898_956+1899insCCCACCCCCACCCCCACCATCACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTCTACCAT CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCAC CGTCATCACCCCCACCGCCATCACCATCATCACCCCCACCATCATCGTCA TCACCCCCACCATCACCGTCATCACCCCCACCCCCACCCCCACCGTCATC ACCCCCACCCCCACCGTCATTACCCCCACCCCACCGTCATTACCCCCACC CCCACCCCCACCATCACCCCCACCATCATCACCCTCACCATCATCACCCC CACCATCACCATCATCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCGCCAT CACCGTCATCACCCCCACCATCATCGTCATCACCCCCACCATCACCGTCA TCACCCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCA CCGTCATCACCCCCACCGCCATCACCGTCATCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LHFPL3_chr7_104323603_104913561	104824253	A A	ATATTATA others(812): Show ATATTATATATTATATATTATATATATAATATATATATTATATATTATAT ATATAATATATATATTATATATTATATATTATATATAATATATATATTAT ATATTATATATTATATATATAATATATATATTATATATTATATATTATAT ATATAATATATATATTATATATTATATATTATATATATTATATATATATT ATATATTATATAATATATATATTATATATTATATATATTATATTATATAT TATATATATAATATATTATATTATATATATTATATAATATATTATATATT ATATATATATTATATAATATATTATATATAATTATATATATTTTATATAT TATATATTATATATTATATATTATATATTATATATTATATTATATATAAT TATATATATTTTATATATTATATATTATATATTATATATTATATATTATA TATATTATATATTATATATTATATATTATATATTATATATTATATATTAT ATATACAATTATATATATTATATATATTATATATTATATATATTATATTA TATAATATATTATATATATAATATATATTATATATTATATATTATATAAT ATATTATATATATAATATATATTATATATTATATATTATATAATATATTA TATATATAATATATATTATATATTATATATTATATAATATGTTATATATA TAATATATATTATATATTATATATTATATAATATATTATATATATAATAT ATATTATATAATATATATTATATATATATTATATATATAATATATATTAT ATAATATATATTATATAAAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01070.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0052 a0001c0001t0004g0082 a0001c0001t0001g0052 a0001c0001t0004g0082	2	68	0.0294	819	c.683 others(838): Show c.683-81934_683-81933insTATTATATATTATATATTATATATAT AATATATATATTATATATTATATATATAATATATATATTATATATTATAT ATTATATATAATATATATATTATATATTATATATTATATATATAATATAT ATATTATATATTATATATTATATATATAATATATATATTATATATTATAT ATTATATATATTATATATATATTATATATTATATAATATATATATTATAT ATTATATATATTATATTATATATTATATATATAATATATTATATTATATA TATTATATAATATATTATATATTATATATATATTATATAATATATTATAT ATAATTATATATATTTTATATATTATATATTATATATTATATATTATATA TTATATATTATATTATATATAATTATATATATTTTATATATTATATATTA TATATTATATATTATATATTATATATATTATATATTATATATTATATATT ATATATTATATATTATATATTATATATACAATTATATATATTATATATAT TATATATTATATATATTATATTATATAATATATTATATATATAATATATA TTATATATTATATATTATATAATATATTATATATATAATATATATTATAT ATTATATATTATATAATATATTATATATATAATATATATTATATATTATA TATTATATAATATGTTATATATATAATATATATTATATATTATATATTAT ATAATATATTATATATATAATATATATTATATAATATATATTATATATAT ATTATATATATAATATATATTATATAATATATATTATATAAAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(812): Show ATATATTTATATATATATTATTTATATATATATTTATATATATTTATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATTTATATATATTTATATATATTTATATATATATTTATATATATT TATATATATTTATATATATATATTTATATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATATATTTTTATATATATTTATA TATATTTTTATATATAGTTATATATATTTATATATAGTTATATATATTTA TGTATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTA TATATATAGTTATATATAGTTATATATATAGTTATATATATATATTTTTA TATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATA TTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATA TATATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGT TATATATATATTTATATATATAGTTATATATTTATATATATTTATATATA TTTATATATATATTTATATATTTATTTATATATATTTATATATGTATTTA TATATATTTATATGTATTTATATATATTTATATATATTTATATATATATA TATAAATATATTTATATATATAAATATAAATATTTATATATATTTATATA TATTTATATATATATTTATGTATATTTATATATATTTATATATATATTTA TGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	80	0.0125	819	c.125 others(836): Show c.125+9673_125+9674insATTTATATATATATTATTTATATATATA TTTATATATATTTATATATATTTATATATATTTATATATATTTATATATA TATTTATATATATATTTATATATATTTATATATATTTATATATATTTATA TATATATTTATATATATTTATATATATTTATATATATATATTTATATATA TATTTATATATATATTTATATATATTTATATATATATTTATATATATATA TTTTTATATATATTTATATATATTTTTATATATAGTTATATATATTTATA TATAGTTATATATATTTATGTATAGTTATATATATTTATGTATAGTTATA TATAGTTATGTATAGTTATATATATAGTTATATATAGTTATATATATAGT TATATATATATATTTTTATATATATAGTTATATATATATATTTTTATATA TATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTTT TATATATATAGTTATATATATATATTTTTATATATATAGTTATATATATA TATTTTTATATATATAGTTATATATATATTTATATATATAGTTATATATT TATATATATTTATATATATTTATATATATATTTATATATTTATTTATATA TATTTATATATGTATTTATATATATTTATATGTATTTATATATATTTATA TATATTTATATATATATATATAAATATATTTATATATATAAATATAAATA TTTATATATATTTATATATATTTATATATATATTTATGTATATTTATATA TATTTATATATATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAP3K19_chr2_134959491_135052447	135033467	C C	CCCCGGAC others(812): Show CCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTAACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGATGACCCCCCCACCTCC CTCCCGGAAGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGTGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCTGGGCAGAGGCCCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCGCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCCCACCTCCCAGCAGGGGCGGCTGGGCAGAGGCGCCCCCC ACCCCCCGGACGGGGCGGCCGGCCGTGGGGGCTAACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTG GCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCCTGGCG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCCGGGCGGGG GCTGACCCCCCCACCTCCCT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0073 a0002c0003t0002g0073	1	202	0.0050	819	c.-28 others(838): Show c.-283-2968_-283-2967insAGGGAGGTGGGGGGGTCAGCCCCCGC CCGGCCAGCCACCCCTTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCAG GCCAGCCACCCCTTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCAGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTTAGCCCCCACGGCCGGCCGCCCCGTCCGGGGGGTGGGGGG CGCCTCTGCCCAGCCGCCCCTGCTGGGAGGTGGGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGCGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCATCCGGGAGGTGAGGGGGGCCTCTGCCCAGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCTTCCGGGAGGGAGGT GGGGGGGTCATCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGTTAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	2/12			chr2	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(812): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC TCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCT CCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCT CCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCT CCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCTCTCTCCT CCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCC CTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCT CTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCC TTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCC CTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCT CTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCC CTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCT TTCTCCTCCCTTGCCATCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 NA20129.hp2 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0013t0002 a0001c0001t0002 a0001c0013t0002	a0001c0001t0002g0188 a0001c0013t0002g0194 a0001c0001t0002g0188 a0001c0013t0002g0194	2	126	0.0159	819	c.-49 others(830): Show c.-4998_-4997insAGGATGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGA GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGG GAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGAGGGGAAGG GAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(812): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCC CCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCT TCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCCTCCCCTCCCCTTC CCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCC ATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTC GCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCC TCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCC CTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCT CTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCC CTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTC CCCACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0008	a0002c0006t0008g0198 a0002c0006t0008g0198	1	8	0.1250	819	c.115 others(836): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC TCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCC TCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCC CCTTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCCTCCCCTCCCC TTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTC CCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCAT TCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCC TTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTT CCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCT CCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCC CCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCT CCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCC CTCCCCACCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MICAL3_chr22_17782649_18029561	17877243	G G	GGGAAGTT others(812): Show GGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAG GTGAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGG TTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGT TAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGG AGGTGAGGGAGGTGAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGA GGTTATGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTGAGGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTGAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGG TTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTGAGGGAGGT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGG AGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTT ATGGAGGTTATGGAGGTTAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0008 a0016c0023t0008	a0016c0023t0008g0019 a0016c0023t0008g0019	1	213	0.0047	819	c.224 others(838): Show c.2242-5221_2242-5220insATAACCTCCATAACCTCCATAACCTC CATAACTTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCA CCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCC CTCACCTCCCTAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTAAC CTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACCTCCA TAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACC TCCATAACCTCCCTCACCTCCCTAACCTCCCTCACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACCT CCCTCACCTCCCTAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTC ACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTC CATAACCTCCCTCACCTCCCTAACCTCCCTCACCTCCCTCACCTCCATAA CCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCC ATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCC TCACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACC TCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTCACCTCCCT AACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877445	G G	GGTTAGGG others(812): Show GGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTA TGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGG TTAAGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGG GAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGG AGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT ATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAAGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAG GTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATG GCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGG AAGTTATGGAGGTTATGGCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0040 a0002c0040	a0002c0040t0002 a0002c0040t0002	a0002c0040t0002g0261 a0002c0040t0002g0261	1	263	0.0038	819	c.224 others(838): Show c.2242-5423_2242-5422insTGCCATAACCTCCATAACTTCCCTAA CCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAAC CTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCC TAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACC TCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCAT AACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCT CCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCTTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTC CATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAAC CTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCTTAACCTCCA TAACTTCCCTAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACC TCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCT AACCTCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCT CCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MLPH_chr2_237482251_237560322	237544008	G G	GGGGGACA others(812): Show GGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGCAAGTG GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTG GGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACATTGGTGAGTGGG GGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTG AGTGGGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGGGACAGT GGTGAGTGGAGGGACATTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGG ACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGG GGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGT GGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACGGTGGTGAG TGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGC AAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGGACAGTGGCAAGTGGGCACGGTGGTGAGT GGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGGACAGTGGCAAGT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0183 a0004c0005t0002g0183	1	260	0.0038	819	c.153 others(838): Show c.1539+1360_1539+1361insCAAGTGGGGACAGTGGTGAGTGGGGA CAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGA CAGTGGCAAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGA CAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACA TTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAG GGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAG TGGGGGGACAGTGGTGAGTGGAGGGACATTGGTGAGTGGGGGGACAGTGG TGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGAC AGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGC ACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGG CACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGG GGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGG GGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGCAAGTGGGC ACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGA GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGG GGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTGG GGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(812): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGT GGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGGG AAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAA GGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGG GAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAG GGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGA GGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGAGGGGAGGGG GAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAG TGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAG GGAAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAG GGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	8	0.1250	819	c.250 others(834): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCATCCC TCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCT CCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCT CCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCAC CCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCC CCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCC CCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCC CCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCT CCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(812): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGG GAGGGGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCG GGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGG GGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGG GGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGG GGAAAGGGGTGAGGGGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGAGG GGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGA GGGGGGAGGGGGAGGGGAGGGGGGAGGGGGGAGGGGAGGGGGGAGGGGGA GGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGGGAGGGAGGGG GAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGG AGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGG ATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAG GGAAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAG GGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0016 a0005c0006t0016	a0005c0006t0016g0127 a0005c0006t0016g0127	1	8	0.1250	819	c.250 others(834): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC CTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCC CTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCT TCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTT TCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCGCCCCTTTT CCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCC CTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCT CCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(812): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATATAAAATAAGATTTTATATATATATATAAAATAAGATTTT ATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATAT ATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAAGAT TTTATATATATAAAATATATATAAAATCTTATTTTATATATATTTTATAT ATATATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATAT TTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	242	0.0041	819	c.-5+ others(834): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATATATAAAATCTTATTTTATATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTAT TTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAA ATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATAAGATTTTATATAT ATAAAATATATATAAAGTAAGATTTTATATATATATAAAATATATATAAA GTAAGATTTCATATATATAAAATATAAAGTAAGATTTTATATATATATAA AATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATAAAAAATATATATC AAATATATATAAAATAAGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NEU4_chr2_241804193_241822413	241806119	T T	TCCCCCCT others(812): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0002 a0001c0006t0001g0002	1	317	0.0032	819	c.-31 others(830): Show c.-3159_-3158insCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3073		chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136534873	C C	CTCCCCAC others(812): Show CTCCCCACAGACCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCC CCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCAC AGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAG CCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCTCAGT CCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCT CCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCCAGTCCCTCCC CACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGTCCCTCCCCACAGA GCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCC CCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCGAGTC CGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGCCCCCAAGTCCGTCC CCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCCCCCCACAG AGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGGCTCCAGTCC CTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCC CCACAGGCCCCACTGGACACCAGGCTCCAGTCCCTCCCCACAGAGCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCTCACAGAGCCCCCGAGTC CCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCC CCACAGAGCCCCCAAGTCCG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0123 a0001c0002t0006g0123	1	322	0.0031	819	c.140 others(836): Show c.140+9150_140+9151insCGGACTTGGGGGCTCTGTGGGGAGGGAC TGGGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGG GGCTCTGTGAGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCTC TGTGGGGAGGGACTGGAGCCTGGTGTCCAGTGGGGCCTGTGGGGACAGAC TCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGA GCCTGGTGTCCAGTGGGGCCTGTGGGGACAGACTCGGGGGCTCTGTGGGG GGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCCTGTGGGGACGGAC TTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTCTGTGGGGACGGACTCGGG CTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGCTCTG TGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGG GAGGGACTGGGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGA CTGGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTG GGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGAGGG GCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTTGGCTCTGTGG GGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAC GGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGAC TGGGGGGCTCTGTGGGGAGGGACTGGGGGGGTCTGTGGGGA	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OGDHL_chr10_49729641_49767323	49742423	C C	CACACCAC others(812): Show CACACCACACACACCATACACACATACACACTCCACACACACCACACATA TATCACACACACCACATACACACTCCACACACACCACACATACATCACAC ACACCATACACCACACACACACCACACACTACACACCACACCCACCCACG CATACCACACATATCCCCTTACATACCACACACATCCCCTACACACACGC CACATACACACACCATACACATCCCCCACAGACACACATACCCCTACATA CCACACACATCCCCTACACACATGCCATACACACACCATACACATCCCCC ACAGACACACATACACACCACACACATACACAAACACTGCACACATACAC ACCCCACACATACAACACACACGACACACCACACACATACACAAACACTG CGCACATACACACCCCACACATACAACACACACGACACACCACACAACCA TACAGACACAAACACATACACCACACACACCACATACACAACAAACATGC CACACACAAATACCACACACACCACATACACACACCCCCCATTCACCACA CACCACATACACACCATTCACACTACACATACACTCCACACACACACCAC ATACACACCATACACACCACACATATCTCCACACACACACCACATACATA CACATCCCATCCACACACACCACACACCCACACACACACACTCCAAACTC CACACACACTCCAAACACCACACAAATACACCTACACACACATCACACAC CCACACCACACACACACCACACAAACATGCCACACACATACCCCACACCA TACACACACACACACCAAAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0166 a0009c0014t0001g0166	1	121	0.0083	819	c.201 others(836): Show c.2012+404_2012+405insATTTGGTGTGTGTGTGTGTATGGTGTGG GGTATGTGTGTGGCATGTTTGTGTGGTGTGTGTGTGGTGTGGGTGTGTGA TGTGTGTGTAGGTGTATTTGTGTGGTGTTTGGAGTGTGTGTGGAGTTTGG AGTGTGTGTGTGTGGGTGTGTGGTGTGTGTGGATGGGATGTGTATGTATG TGGTGTGTGTGTGGAGATATGTGTGGTGTGTATGGTGTGTATGTGGTGTG TGTGTGGAGTGTATGTGTAGTGTGAATGGTGTGTATGTGGTGTGTGGTGA ATGGGGGGTGTGTGTATGTGGTGTGTGTGGTATTTGTGTGTGGCATGTTT GTTGTGTATGTGGTGTGTGTGGTGTATGTGTTTGTGTCTGTATGGTTGTG TGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGCGCAGTGTTT GTGTATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGT GTGCAGTGTTTGTGTATGTGTGTGGTGTGTATGTGTGTCTGTGGGGGATG TGTATGGTGTGTGTATGGCATGTGTGTAGGGGATGTGTGTGGTATGTAGG GGTATGTGTGTCTGTGGGGGATGTGTATGGTGTGTGTATGTGGCGTGTGT GTAGGGGATGTGTGTGGTATGTAAGGGGATATGTGTGGTATGCGTGGGTG GGTGTGGTGTGTAGTGTGTGGTGTGTGTGTGGTGTATGGTGTGTGTGATG TATGTGTGGTGTGTGTGGAGTGTGTATGTGGTGTGTGTGATATATGTGTG GTGTGTGTGGAGTGTGTATGTGTGTATGGTGTGTGTGGTGT	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	15/22			chr10	TogoVar
PCDH11X_chrX_91774375_92628230	92437620	T T	TGCTTTTG others(812): Show TGCTTTTGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT CTTTTTTTTTGTTTTTTTTTTTTGTTTTTTTTTTTGTTTTTTTTTTTGTT TTTTTTTTTTTCTTTTTTTTTTTTTTTATTATACTCTCAGTTTTAGGGTA CATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTG GTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAAT GCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATA TTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAG TGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAA TGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCA TTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT AATCCAGACTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTA TTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAG CATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTC AAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCC ACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCT ATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGAT TGCCATTCTAACTGGTGTGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0041 a0001c0001t0005g0041	1	152	0.0066	819	c.334 others(840): Show c.3344-30666_3344-30665insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTCTTTTTTTTTGTTTTTTTTTTTTGTTTTTTTTTTTGTT TTTTTTTTTGTTTTTTTTTTTTTCTTTTTTTTTTTTTTTATTATACTCTC AGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACA TGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGT ATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCC CAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATT CCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATA GTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGAT ATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTG CCACATTTTCTTAATCCAGACTATCATTGTTGGACATTTGGGTTGGTTCC AAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTG TCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGG GATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCC ACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGT AAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGA CTTTTTAATGATTGCCATTCTAACTGGTGTGAGCTTTTGAGTCTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar

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