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
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(396): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATATTATATATTATATATTAAATATATATTATATATATAAAATATA TATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAA TATATATAAAATATATATTATATATAAAATATATACTATATATAAAATAT ATAATATATATAAAATATATACTATATATAAAATATATACTATATATAAA ATATATACTATATATAAAATATATATTATATATAAAATATATACTATATA TAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	203	0.0049	403	c.963 others(422): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAATATATATTATATATAAAATAT ATACTATATATAAAATATATAATATATATAAAATATATACTATATATAAA ATATATACTATATATAAAATATATACTATATATAAAATATATATTATATA TAAAATATATACTATATATAAAATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(396): Show GCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAGGGTAGGGGCC ACCATCAGGAACCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTG AGTGAGAGGGTGGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGG CTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCC TGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAGAGGGTAGG GGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCACCAGGACC CCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGAGGGTGGGGG CCAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	241	0.0041	403	c.430 others(418): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGGTCCT GATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCT CACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGA TGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCT CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCT GATGGTGGCCCCCACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACC CTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTC CTGATGGCGGCCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCAC CCCTTTACTCAGGGGTCCTGATG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786775	A A	AGGAACCC others(396): Show AGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAG AGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCA CCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGG GGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTGGGGGCCGCCATCA GGACCCCTGAGTGAGAGGGTGGGGGCCAGTATCAGGACCCCTGAGTGAGG GGGTGGGGGCTGCCTGCTGGACCCCTGAGTGAGGGGGTGGGGGCTGCCAT CAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGACCCCTGAGTGA GGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCC TGCT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0209 a0001c0003t0003g0209	1	241	0.0041	403	c.430 others(418): Show c.430-263_430-262insAGCAGGCAGCCCCCACCCCCTCACTCAGGG GTCCTGATGGCAGCCCCCACCCCCTCACTCAGGGGTCCAGCAGGCAGCCC CCACCCCCTCACTCAGGGGTCCTGATGGCAGCCCCCACCCCCTCACTCAG GGGTCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATACTGGC CCCCACCCTCTCACTCAGGGGTCCTGATGGCGGCCCCCACCCCTCACTCA GGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGCTGG CTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCTCACTCAGG GGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGATGGCAGCC CCTACCCTCTCACTCAGGGTTCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(396): Show TATATATAATTATATATAATATATTATATATAATTATATATAATATATAA TTATATATTATATCTAATTATATATAATATATATATATTATATATATAAT AATATATATACAATATATAATTATATATTATATAATTATATATAATATAT AATTATATATTATATATAATATATAATTATATATTATATAATAATATATA ATCATATATTATATATAATATATAATTATATATTATATAATAATATATAA TTATTAATATATAATTATATATAATATATAATTATATATTATATAATAAT ATATAATTATATATTATATATAATTATATATTATATAATAACATATAATT ATATATAATATATAAATATATAATATATAAATATATAATATATAAATATA TATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	57	0.0175	403	c.622 others(418): Show c.622-596_622-595insTATTATATATAATTATATATAATATATAAT TATATATTATATCTAATTATATATAATATATATATATTATATATATAATA ATATATATACAATATATAATTATATATTATATAATTATATATAATATATA ATTATATATTATATATAATATATAATTATATATTATATAATAATATATAA TCATATATTATATATAATATATAATTATATATTATATAATAATATATAAT TATTAATATATAATTATATATAATATATAATTATATATTATATAATAATA TATAATTATATATTATATATAATTATATATTATATAATAACATATAATTA TATATAATATATAAATATATAATATATAAATATATAATATATAAATATAT ATAATATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MAEA_chr4_1284891_1345137	1317145	C C	CCACCCCA others(396): Show CCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCA CACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCAC CCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACA CTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACC CGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACCCCA GCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCA GGCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	321	0.0031	403	c.456 others(420): Show c.456+1574_456+1575insCGCAGGCCCACCCGGTCCCACACTCCAG ACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCC CCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGAC TCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCC CACCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCAC ACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCAC CCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACC CCAGCCCCCACACTCCAGACTCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317145	C C	CCACCCGG others(396): Show CCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCA CACTCCAGACTCACCCGCAGGCCCACCCGGTCCCACACTCCAGACTCACC CGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCC CAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACT CCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCG CAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCA GCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCA GGCT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02148.hp2 HG01952.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0001g0299 a0001c0001t0001g0305	2	322	0.0062	403	c.456 others(420): Show c.456+1550_456+1551insGGTCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCC ACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTC ACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCA CCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCAC ACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCAC CCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACC CCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACAC TCCAGACTCACCCGCAGGCTCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
METTL25B_chr1_156723469_156741960	156735547	A A	AAAAAAAA others(396): Show AAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACT TGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTAT GATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAA AAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATC AAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGA GCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCA TCTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	388	0.0026	403	c.112 others(420): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735547	A A	AAAAAAAA others(396): Show AAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACT TGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTAT GATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAA AAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATC AAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGA GCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCA TCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	362	0.0028	403	c.18 others(414): Show c.1850_*1851insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1755		chr1	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(396): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTTTATATAAAATATATATTATATTATATATAATATATATTATATAAAA TATATATTATATTATATATAATATATATTATATAAAATATATATTATATT ATATATAATATATATTATATAAAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTTTATAAAATATATATTATATTATATAATATATATTTTA TAAAATATATATTATATTATATATAATATATATTATATAAAATATATATT ATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG06807.hp2 HG02559.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	118	0.0169	403	c.51 others(414): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATATAATATAATATATATTTTATATAATAT ATATTATATAATATAATATATATTTTATATAATATATATTATATATAATA TAATATATATTTTATATAATATATATTATATATAATATAATATATATTTT ATATAATATATATTATATATAATATAATATATATTTTATATAATATATAT TATATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTTTATATAAAATATATATTATATATAATATAATATATATTAT ATATAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(396): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTGTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTC CCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCT TTCTTTCCTTCCCTCCTTCCTTTCCTTCCCTTCTTTCCCTCCTTCCTTCC TTTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0100 a0001c0003t0001g0100	1	18	0.0556	403	c.153 others(420): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAG GGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGA GAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGACAG AGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGG GAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAG GAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAA GGGGGAGGGAGGGAGGGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGTC others(396): Show CTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCCGCCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCC CGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCC TCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCC GCCTGCAGCCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTC CTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	242	0.0041	403	c.47 others(414): Show c.4754_*4755insTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCCGCCCCCCCGGCAGACCCTCCTGTCTCCGCCTG CAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCG CCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCA GACCCTCCTGTCTCCGCCTGCAGCCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGC AGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(396): Show CTGTGTACAGCATGTATACTGTATGTATGTATACTGTATGTATGTATACT GTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACA GTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGT ATGTATACCGTATATATACACAGTATGTATACTGTGTATGCAGTATGTAT ACTGTATATATACACTATACAGTATGTATACTGTATATATACACACAGTA TGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAG TATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACAC AGTA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0291 a0001c0004t0004g0291	1	118	0.0085	403	c.-75 others(422): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATAGTGTATATATACAGTATACATACTGCATACACAGTAT ACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATAC ATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACAT ACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATAC TGTGTATATATACGGTATACATACATACAGTATACATACATACAGTATAC ATACATACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993508	C C	CCCCCCCC others(396): Show CCCCCCCCCTCCCCCCCCCTCCCCCACCTCTCCCCCACCTCTCCCCCCCT CTCCCCCCCTCCCCCCCTCCTCCCCCCCCTCCCCCACCTCTCCCCCACCT CTCCCCCCCTCTCCCCCCCTCCCCCCCTCCCCCCTCCCCCCTCTCCCCCT CCCTCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0021 a0006c0007t0021	a0006c0007t0021g0056 a0006c0007t0021g0056	1	299	0.0033	403	c.55 others(414): Show c.5595_*5596insCCCCCCCCTCCCCCCCCCTCCCCCACCTCTCCCC CACCTCTCCCCCCCTCTCCCCCCCTCCCCCCCTCCTCCCCCCCCTCCCCC ACCTCTCCCCCACCTCTCCCCCCCTCTCCCCCCCTCCCCCCCTCCCCCCT CCCCCCTCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4880		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993551	C C	CCCCTCCT others(396): Show CCCCTCCTCCCCTCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCTCCCCTCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCTCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0018 a0005c0014t0018	a0005c0014t0018g0170 a0005c0014t0018g0170	1	275	0.0036	403	c.56 others(414): Show c.5638_*5639insCCCTCCTCCCCTCTCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCTCCCCTC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCTCCT CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4923		chr19	TogoVar
NME4_chr16_392199_405754	397652	C C	CGGGGTGG others(396): Show CGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGT GAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG03486.hp2 others(1): Show HG02257.hp2 HG02258.hp1 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0025 a0001c0001t0001g0192 a0001c0001t0001g0193	4	345	0.0116	403	c.91+ others(416): Show c.91+357_91+358insGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(396): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG02055.hp2 others(3): Show HG00280.hp1 HG00323.hp1 HG02055.hp2 HG03579.hp2 NA18950.hp1 NA21309.hp1	a0002 a0012 a0002 a0012	a0002c0002 a0012c0007 a0002c0002 a0012c0007	a0002c0002t0001 a0012c0007t0007 a0002c0002t0001 a0012c0007t0007	a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 others(3): Show a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0012c0007t0007g0285	6	281	0.0214	403	c.195 others(420): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA TACTAACTATATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(396): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGT GGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0256 a0001c0006t0001g0256	1	206	0.0049	403	c.140 others(420): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCCGGGAG GGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPRL3_chr16_80386_143673	81951	C C	CCCTCCTG others(396): Show CCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTC CGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACC CTACCTCCAGGAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCC CACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACC CCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCAC ACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGC TCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCT CCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	255	0.0039	403	c.47 others(414): Show c.4753_*4754insCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGT CAGTGTGGGGAGCATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAG AAGGGGTCAGCGCCGGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGT GGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGGCTTCCTGGAG GTAGGGTGGTGGGAAGAAGGGGTCAGCGCCGGGGGAGCATTCAGGAGGCC TTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCA GGAGGGCTTCCTGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGA GCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGT GTGGGGAGCATTCAGGAGG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3434		chr16	TogoVar
OR6J1_chr14_22625929_22649352	22637550	C C	CCTGCCCA others(396): Show CCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0060 a0014c0014t0060	a0014c0014t0060g0309 a0014c0014t0060g0309	1	195	0.0051	403	c.-27 others(420): Show c.-27-2713_-27-2712insAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGCGG GGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCAG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
PDXK_chr21_43714129_43767299	43743308	T T	TTCCCCCC others(396): Show TTCCCCCCAGCTCCCGAGCACTGTGGGGACACCTCGCCTGCACCCACCTC CTTCCCCCCAGCTCCCGAGCACTGTGGGGACACCCCGCCTGCACCCACCT CCCTCTCCCCCGCCCCCAGCACTGTGGGGACACCTCGCCTGCACCCACCT CCCTCCCCCCAGCCCCCGAGCACTGTGGGGACACCTCACTTGCACCCACC TCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCTCACCTGCACCCAC CTCCCTCCCCCCGCTCTGAGCACTATGGGGACACCTCGCCTGCACCCACC TCCCTCCCCCCAGCTCCTGAGCACTATGGGGACACCTCGCCTGCATCCAC CTCCCTCCCCCCACCCCCAGCACTGTGGGGACACCTCGCCTGCACCCACC TCCC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18960.hp2 NA18966.hp2 NA18959.hp2 NA18960.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0091 a0001c0001t0001 a0001c0001t0091	a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0091g0267 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0091g0267	3	352	0.0085	403	c.248 others(418): Show c.248-179_248-178insACCTGCACCCACCTCCCTCCCCCCGCTCTG AGCACTATGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAGCTCCT GAGCACTATGGGGACACCTCGCCTGCATCCACCTCCCTCCCCCCACCCCC AGCACTGTGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAGCTCCC GAGCACTGTGGGGACACCTCGCCTGCACCCACCTCCTTCCCCCCAGCTCC CGAGCACTGTGGGGACACCCCGCCTGCACCCACCTCCCTCTCCCCCGCCC CCAGCACTGTGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAGCCC CCGAGCACTGTGGGGACACCTCACTTGCACCCACCTCCCTCCCCCCAGCC CCTGAGCACTGTGGGGACACCTC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PJA2_chr5_109329722_109414974	109354358	T T	TATGATAT others(396): Show TATGATATCTAGAGATATCTATAGATTAGATATCTATGCTATCTAGAGAT ATCTATAGATTAGATATCTGTGATATCTAGAGATATCTATAGATTGGATA TCTATATCTAGAGATATCTATAGATTGGATATCTATGATATCTAGAGATA TCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATGT CTATGATATCTAGAGATATCTATAGATTAGATAGATATCTAGAGATATCT ATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCTA TGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATAT CTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATC TATG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG04184.hp2 HG03710.hp2 HG04184.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0085 a0003c0003t0002g0092 a0003c0003t0002g0085 a0003c0003t0002g0092	2	222	0.0090	403	c.176 others(422): Show c.1764+1556_1764+1557insCATAGATATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATA TCTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATAT CTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCTATCT AATCTATAGATATCTCTAGATATCATAGACATCTAATCTATAGATATCTC TAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATAT CCAATCTATAGATATCTCTAGATATAGATATCCAATCTATAGATATCTCT AGATATCACAGATATCTAATCTATAGATATCTCTAGATAGCATAGATATC TAATCTATAGATATCTCTAGATATCAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKD1_chr16_2083708_2140898	2104200	T T	TAAGGGAG others(396): Show TAAGGGAGGGGAAGGGGGAAAGGGAGGGGAAGGGGGAAAGGGAGGGGAAG GGGGATAAGGGAGGGGAAGGGGGAAAGGGAGGGGAAGGGGGAAAGGGAGG GGAAGGGGGATAAGGGAGGGGAAGGGGGAAAGGGAGGGGAAGGGGGAAAG GGAGGGGAAGGGGGATAAGGGAGGGGAAGGGGGAAAGGGAGGGGAAGGGG GATAAGGGAGGGGAAGGGGGAAAGGGAGGGGAAGGGGGAAAGGGAGGGGA AGGGGGAAAGGGAGGGGAAGGGGGATAAGGGAGGGGAAGGGGGAAAGGGA GGGGAAGGGGGAAAGGGAGGGGAAGGGGGATAAGGGAGGGGAAGGGGGAA AGGGAGGGGAAGGGGGATAAGGGAGGGGAAGGGGGAAAGGGAGGGGAAGG GGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0043 a0043	a0043c0051 a0043c0051	a0043c0051t0002 a0043c0051t0002	a0043c0051t0002g0194 a0043c0051t0002g0194	1	210	0.0048	403	c.816 others(420): Show c.8161+297_8161+298insTCCCCCTTCCCCTCCCTTTCCCCCTTCC CCTCCCTTATCCCCCTTCCCCTCCCTTTCCCCCTTCCCCTCCCTTATCCC CCTTCCCCTCCCTTTCCCCCTTCCCCTCCCTTTCCCCCTTCCCCTCCCTT ATCCCCCTTCCCCTCCCTTTCCCCCTTCCCCTCCCTTTCCCCCTTCCCCT CCCTTTCCCCCTTCCCCTCCCTTATCCCCCTTCCCCTCCCTTTCCCCCTT CCCCTCCCTTATCCCCCTTCCCCTCCCTTTCCCCCTTCCCCTCCCTTTCC CCCTTCCCCTCCCTTATCCCCCTTCCCCTCCCTTTCCCCCTTCCCCTCCC TTTCCCCCTTCCCCTCCCTTATCCCCCTTCCCCTCCCTTTCCCCCTTCCC CTCCCTTTCCCCCTTCCCCTCCCTT	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	22/45			chr16	TogoVar
PKP3_chr11_389209_409908	398381	C C	CTACCCCC others(396): Show CTACCCCCACATATACCTCATCACCTCCCTACCCCCGCACACACCTCCGT CACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACATAT ACCTCATCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCC CGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCACATATACCTCATCACCTCCCTACCCCCGCACACACCTCCG TCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTACCCCCGCACA CACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACC CCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACC TCCG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0106 a0010c0017t0001g0106	1	184	0.0054	403	c.106 others(420): Show c.1069-604_1069-603insACATATACCTCATCACCTCCCTACCCCC GCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCC CTACCCCCACATATACCTCATCACCTCCCTACCCCCGCACACACCTCCGT CACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCCTACCCC CGCACACACCTCCGTCACCTCCGTACACCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCC GTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCGTACCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP2R2D_chr10_131896008_131964834	131952568	C C	CTAGTGAC others(396): Show CTAGTGACTTGCGGGTGTGCGGGGGGTTCACTAGTGACTTGCGGGTGTGC GGGGGGGTTCATTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTGT CTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGACTTGCGG GTGTGCGGGGGGGTTCACTTAGTGACTTTCGGGTGTGTGGGGGTTCACTG TCTTAGCAGTGACTTGTGGGTGTGCGGGGGTTCACTGTCTTAGTGACTTG GTGTGCGGGGGGGTTCACTGTCTTAGTGACTTGTGGGTGTGCGGGGGGTT CACTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTAGTGACTTGCG GGTGTGCGGGGGGTTCACTAGTGACTTGCGGGTGTGCGGGGGGGTTCATT GTCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0188 a0001c0001t0027g0188	1	172	0.0058	403	c.108 others(422): Show c.1083-3085_1083-3084insAGTGACTTGCGGGTGTGCGGGGGGGT TCATTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGA CTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGG GGGGGTTCACTTAGTGACTTTCGGGTGTGTGGGGGTTCACTGTCTTAGCA GTGACTTGTGGGTGTGCGGGGGTTCACTGTCTTAGTGACTTGGTGTGCGG GGGGGTTCACTGTCTTAGTGACTTGTGGGTGTGCGGGGGGTTCACTGTCT TAGTGACTTGCGGGTGTGCGGGGGGTTCACTAGTGACTTGCGGGTGTGCG GGGGGTTCACTAGTGACTTGCGGGTGTGCGGGGGGGTTCATTGTCTTAGT GACTTGCGGGTGTGCGGGGGGTTCACT	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(396): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCG CTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGC TTGTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACTGTGTTGCCAGGCTGGTCTCAAACTCCTGGCC TAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGA GCCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATA TTAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0027 a0001c0001t0008g0027	1	20	0.0500	403	c.479 others(422): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT TTTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCG TGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCT GCCTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCA GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGCCAGG CTGGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAG TGTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTT ATATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(396): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCG CTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGC TTGTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACTGTGTTGCCAGGCTGGTCTCAAACTCCTGGCC TAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGA GCCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATA TTAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0009 a0001c0001t0015g0009	1	20	0.0500	403	c.479 others(422): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCG TGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCT GCCTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCA GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGCCAGG CTGGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAG TGTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTT ATATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(396): Show AACAGCATATTATATATATATATATATATATATATATATATATATATATA TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCG CTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTAGCT TGTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCC TAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGA GCCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATA TTAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	20	0.0500	403	c.479 others(422): Show c.479-18077_479-18076insGCATATTATATATATATATATATATA TATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCG TGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCT GCTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGG CTGGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAG TGTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTT ATATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(396): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCACCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCAT CCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCC ATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATC CTCACCCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTC ATCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTC CCTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCA CCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCTCA TCCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	149	0.0067	403	c.-58 others(418): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGGGGGA GGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGA TGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGG TGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAGGGGG CTGAGGATGGAGGAGGGGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGG TGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGG GGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGTGACGATGGGGGG GTGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGGGTGAGGGAGGGG GTGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(396): Show CGGGAGGGAGATGGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCT GGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCC CTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCG TCCG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	159	0.0063	403	c.106 others(422): Show c.1063-1685_1063-1684insCGGACGGGGTGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGGCTGACCCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(396): Show CGGGAGGGAGATGGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCT GGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCC CTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0318 a0001c0001t0006g0318	1	159	0.0063	403	c.106 others(422): Show c.1063-1685_1063-1684insCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGGCTGACCCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(396): Show CGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCT GGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCC CTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCG TCCG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0211 a0001c0001t0013g0211	1	159	0.0063	403	c.106 others(422): Show c.1063-1685_1063-1684insCGGACGGGGTGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGGCTGACCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(396): Show CGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCT GGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAG TCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCC CTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03927.hp2 HG00735.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0308 a0001c0001t0006g0309	2	160	0.0125	403	c.106 others(422): Show c.1063-1685_1063-1684insCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCAGAGGGACTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGGCTGACCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(396): Show CGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTG GGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCG TCCG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19012.hp2 NA19063.hp2 others(1): Show NA18960.hp2 NA19012.hp2 NA19063.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0127 a0001c0001t0004g0130 others(1): Show a0001c0001t0004g0063 a0001c0001t0004g0127 a0001c0001t0004g0130 a0001c0001t0004g0134	4	162	0.0247	403	c.106 others(422): Show c.1063-1685_1063-1684insCGGACGGGGTGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCC TGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGC GGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGGCTGACCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(396): Show CGGGAGGGAGATGGGGGGGTCAGCCCCCCCCACCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCT GGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCC CTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCG TCCG	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19083.hp2 HG02056.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0246 a0001c0001t0002g0239 a0001c0001t0002g0246	2	160	0.0125	403	c.106 others(422): Show c.1063-1685_1063-1684insCGGACGGGGTGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGGGCTGACCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(396): Show CGGGAGGGAGATGGGGGGGTCAGCCCCCCCCACCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCT GGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCC CTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0321 a0001c0001t0044g0321	1	159	0.0063	403	c.106 others(422): Show c.1063-1685_1063-1684insCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGGGCTGACCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
RASA3_chr13_113972783_114137623	114044179	C C	CCCCCCGC others(396): Show CCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCT GAGCTCCCCCCGCCGCCTCACTCGCTGAGCCCCCCCCCGCCCCGCCTCAC TCGCTGAGCCCCCCCTGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCC TCACTCGCTGAGCCCCCCCCCGCCCCCACTCGCTGAGCCGCCCCCGCCCC GCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCC CCGCCTCACTCGCTGAGCTCCCCCCGCCGCCTCACTCGCTGAGCTCCCCC CGCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCC CGCCCCGCCTCACTCGCTGAGCCCCCCCCCGCCCCACTCGCTGAGCCGCC CCCG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	26	0.0385	403	c.278 others(420): Show c.278-3086_278-3085insCGGGGGCGGCTCAGCGAGTGGGGCGGGG GGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGG CGGGGGGCTCAGCGAGTGAGGCGGCGGGGGGAGCTCAGCGAGTGAGGCGG CGGGGGGAGCTCAGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGGC GGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGCGGCTCAGCGAGTG GGGGCGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGT GAGGCGGGGCAGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGCTC AGCGAGTGAGGCGGCGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGG CTCAGCGAGTGAGGCGGGGCGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(396): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	174	0.0057	403	c.66+ others(418): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RFTN1_chr3_16310845_16518699	16404258	T T	TATTTTAT others(396): Show TATTTTATATATAATATATATTATATATTTTATATAAAATATATAATATA TATTTTATATAAAATATATAATATATATTTTATATAAAATATATAATATA TATTTTATATATAATATATAATATATATTTTATATATAATATATAATATA TATTTTATATATAATATATTTTATATATATATTATATATTTTATATATAT AATATATAAAATATATATAATATATAAAATATAAAATATATAATATATAT ATTATATAATATATATAATATATTATATATAATATATATAATATATAATA TATATAATATATATAATATATATACAATATATAATATATATAATATATAA TATATATATACAATATATAATATATATAATATATAATATATATAATATAT ATAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0240 a0001c0002t0007g0240	1	260	0.0038	403	c.441 others(420): Show c.441+5116_441+5117insGTATATATATTATATATATTATATATTA TATATATTATATATTGTATATATATATTATATATTATATATATTATATAT TGTATATATATTATATATATTATATATATTATATATTATATATATTATAT ATAATATATTATATATATTATATAATATATATATTATATATTTTATATTT TATATATTATATATATTTTATATATTATATATATAAAATATATAATATAT ATATAAAATATATTATATATAAAATATATATTATATATTATATATAAAAT ATATATTATATATTATATATAAAATATATATTATATATTTTATATAAAAT ATATATTATATATTTTATATAAAATATATATTATATATTTTATATAAAAT ATATAATATATATTATATATAAAAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RGS12_chr4_3288021_3444913	3341502	G G	GGGGGGAG others(396): Show GGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGG AGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAG GGGAGGGTGGAGAGTTGGGGGTGTGGGGGGGGGGAGGGTGGAGAGATGGG GGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAA GGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGG GGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGA GATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGG GGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGG GTGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19043.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0267 a0001c0004t0001g0266 a0001c0002t0001g0267 a0001c0004t0001g0266	2	213	0.0094	403	c.188 others(422): Show c.1882-1434_1882-1433insGGGGAGGGAGGGTGGAGAGATGGGGG TGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGG AGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGG GGGGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGA TGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGA GGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGT GTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTG GAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGG GAGGGAGGGTGGAGAGATGGGGGTGTG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RIPK1_chr6_3063494_3120187	3092947	A A	ACCTCGGA others(396): Show ACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCG CCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGG AACCGCAGAGCGCCTACCTGCCGCGCCTCGGAACCGCAGAGCGCCTACCT GCCGCGCCTCGGAACCGCAGAGCGCCTACCTGCCGCGCCTCGGAACCGCA GAGCGCCTACCTGCCGCGCCTCGGAACCGCAGAGCGCCTACCTGCCGCGC CTCGGAACCGCAGAGCGCCTACCTGCCGCGCCTCGGAACCGCAGAGCGCC TACCTGCCGCGCCTCGGAACCGCAGAGCGCCTACCTGCCGCGCCTCGGAA CCGCAGCGCGCCTACCTGCCGCGCCTCGGAACCGCAGCGCGCCTACCTGC CGCG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0326 a0001c0001t0004g0327	2	336	0.0060	403	c.915 others(420): Show c.915+3293_915+3294insCGGAACCGCAGAGCGCCTACCTGCCGCA CCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGC CTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCGCCTCGGA ACCGCAGAGCGCCTACCTGCCGCGCCTCGGAACCGCAGAGCGCCTACCTG CCGCGCCTCGGAACCGCAGAGCGCCTACCTGCCGCGCCTCGGAACCGCAG AGCGCCTACCTGCCGCGCCTCGGAACCGCAGAGCGCCTACCTGCCGCGCC TCGGAACCGCAGAGCGCCTACCTGCCGCGCCTCGGAACCGCAGAGCGCCT ACCTGCCGCGCCTCGGAACCGCAGCGCGCCTACCTGCCGCGCCTCGGAAC CGCAGCGCGCCTACCTGCCGCGCCT	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(396): Show AATATATATATTTAAATATATATATTTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATAATTTAATATA TATCTTTAAATATATATTAATATATATTTAAATATATATATTTAAATATA TATTAATATATATTTAAAGATATATATTAAATTATATATATTAAAATATG TATATTAATATATATTTAAATTATATAATTTAAATATACATATTTAAAAA TATATATATTTAAATATATATATTTTTAATATATATATTTTTAAATATAT ATATTTATATATATATTTTTAAATATATATATATTTATATATATATTTTT AAATATATATATATATATTTATATATATATTTTTAAATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0085 a0001c0002t0003g0085	1	6	0.1667	403	c.182 others(420): Show c.182-2703_182-2702insTATATATATTTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATAATTT AATATATATCTTTAAATATATATTAATATATATTTAAATATATATATTTA AATATATATTAATATATATTTAAAGATATATATTAAATTATATATATTAA AATATGTATATTAATATATATTTAAATTATATAATTTAAATATACATATT TAAAAATATATATATTTAAATATATATATTTTTAATATATATATTTTTAA ATATATATATTTATATATATATTTTTAAATATATATATATTTATATATAT ATTTTTAAATATATATATATATATTTATATATATATTTTTAAATATATAT ATATATATATATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(396): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGGAGGGAGGGAGGAGGAGG GAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGA GGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGA AGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAG AAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGA GGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGAAGGAGGAGG AGAA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	2	0.5000	403	c.807 others(420): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTC CCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCTCCCCCCT CCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCC TCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCC TCCCCCTCCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SERPINF2_chr17_1737871_1760265	1739135	A A	AGCCTGAT others(396): Show AGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGC AGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATTCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGT GAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA GGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(32): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG01099.hp2 HG01433.hp1 HG01891.hp1 HG01891.hp2 HG02027.hp2 HG02055.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03225.hp1 HG03471.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18940.hp1 NA18971.hp2 NA18995.hp1 NA19009.hp1 NA19030.hp2 NA19064.hp2 NA19066.hp1 NA20300.hp2	a0002 a0004 a0011 a0002 a0004 a0011	a0002c0002 a0004c0004 a0011c0013 a0002c0002 a0004c0004 a0011c0013	a0002c0002t0001 a0002c0002t0004 a0004c0004t0011 others(1): Show a0002c0002t0001 a0002c0002t0004 a0004c0004t0011 a0011c0013t0001	a0002c0002t0001g0002 a0002c0002t0001g0011 a0002c0002t0001g0023 others(12): Show a0002c0002t0001g0002 a0002c0002t0001g0011 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0057 a0002c0002t0001g0061 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0004g0023 a0002c0002t0004g0024 a0002c0002t0004g0072 a0004c0004t0011g0011 a0011c0013t0001g0002	35	341	0.1026	403	c.-37 others(414): Show c.-3778_-3777insGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGG GAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGG CCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGA TTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGA GCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3735		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739135	A A	AGCCTGAT others(396): Show AGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGC AGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATTCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGT GAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA GGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01255.hp1 HG00738.hp2 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0062 a0002c0002t0001g0053 a0002c0002t0001g0062	2	308	0.0065	403	c.-37 others(414): Show c.-3778_-3777insGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGG CCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGA TTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGA GCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3735		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739135	A A	AGCCTGAT others(396): Show AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGC AGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATTCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGT GAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA GGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG03654.hp1 HG02683.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0002 a0002c0002t0004g0002 a0002c0002t0001g0002 a0002c0002t0004g0002	2	308	0.0065	403	c.-37 others(414): Show c.-3778_-3777insGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGG GAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGG CCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGA TTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGA GCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3735		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739180	A A	AGCCTGAT others(396): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAG GAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGA AGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	403	0.0025	403	c.-37 others(414): Show c.-3733_-3732insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCT GATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGG ACAGTGAGGGTGGGAAGTG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3690		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1740885	A A	AGGAGCCT others(396): Show AGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAG GGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGTGA GGCGCAGGACACTGAGGGTGGGAAGGAGCCTGATTCAGGGAGTGAGGAGC AGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGAC AGTGAGGGTGGGAGGCGGCCTGATGCGGGGAGTGAGGAGCCGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	444	0.0023	403	c.-20 others(414): Show c.-2028_-2027insGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGA AGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCC TGATGCAGGGAGTGAGGCGCAGGACACTGAGGGTGGGAAGGAGCCTGATT CAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCGGGGAGTGA GGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGC AGGACAGTGAGGGTGGGAG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		1985		chr17	TogoVar
SHANK1_chr19_50654255_50724802	50678958	A A	AGGGGAGG others(396): Show AGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG GGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGG GTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGT GAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGG GAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG TGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGG GTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG GGTG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02004.hp1 HG01952.hp2 HG02004.hp1	a0002 a0008 a0002 a0008	a0002c0001 a0008c0033 a0002c0001 a0008c0033	a0002c0001t0056 a0008c0033t0002 a0002c0001t0056 a0008c0033t0002	a0002c0001t0056g0036 a0008c0033t0002g0185 a0002c0001t0056g0036 a0008c0033t0002g0185	2	309	0.0065	403	c.257 others(422): Show c.2578-6845_2578-6844insCACCCTGACCCCTCCCCATCACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAT CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCC TGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCTCC ATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGT AACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCT CCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGA CCCCTCCCCACACCCTGACCCCTCCCC	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLC12A7_chr5_1045384_1117063	1098623	C C	CCCCCCTC others(396): Show CCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCAC CCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGC ACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCTCACCCAGCCCCCCTCTAACCGTCTGCACGCCCAGCCCCCCTCTAA CCCTCTGCTCACCCAGCCCCCCTAACCCTCTGCTCACCCAGCCCCCCTCT AACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCC CTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGC CCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACC CAGA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03492.hp1 HG06807.hp1 others(2): Show HG02273.hp1 HG03492.hp1 HG06807.hp1 NA18990.hp2 NA19065.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0002c0004 a0002c0008 others(1): Show a0002c0002 a0002c0004 a0002c0008 a0007c0021	a0002c0002t0002 a0002c0004t0001 a0002c0008t0002 others(1): Show a0002c0002t0002 a0002c0004t0001 a0002c0008t0002 a0007c0021t0004	a0002c0002t0002g0069 a0002c0004t0001g0037 a0002c0004t0001g0070 others(2): Show a0002c0002t0002g0069 a0002c0004t0001g0037 a0002c0004t0001g0070 a0002c0008t0002g0068 a0007c0021t0004g0084	5	101	0.0495	403	c.125 others(420): Show c.125-4376_125-4375insTCTGGGTGTGCAGAGGGTTAGAGGGGGG CTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGG GGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTA GAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGG GTTAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGA CGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTG CAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGG TGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGC TGGGCGTGCAGAGGGTTAGAGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(396): Show CGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGA GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGG GCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGG GAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGGC GGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGG GGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAAGG AGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGGCGG GAGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0079	1	25	0.0400	403	c.914 others(422): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCCGCCCCCCCCG CGTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGC CCCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCC CCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCTCCCGCCCCCCCGCCCC CCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTC CCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCCCCTCC CGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCCTCCCG CCTCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCC CCGCCTCCTCCCCCTCCCGCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar

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