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
GPRIN1_chr5_176590802_176615156	176591689	A A	ATGATGGT others(447): Show ATGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGATGATGAC GATGGTGGTGGTGGTGGTGGTGTTGGTGTTGAGGTGATGGTGATGGTTGT GATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	397	0.0025	454	c.51 others(465): Show c.5118_*5119insCCATCACAACCATCACCATCACCTCAACACCAAC ACCACCACCACCACCACCATCGTCATCATCACCATCATCACCACCATCAC CATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCAT CACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCAC CATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCAC CACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCAT CACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCAT CATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACAC CATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAA CACCATCATCACCACCATCA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4112		chr5	TogoVar
IFNAR1_chr21_33319970_33364864	33322703	T T	TAATATAT others(447): Show TAATATATATACGGAATATATATATAATATATATACGGAATATATATATA CGGAATATATATATAATATATATATGGAATATATATACACGGAATATATA TATAATATATATGGAATATATATATACGGAATATATATATAATATATATA TGGAATATATATATACGGAATATATATATAATATATATATGGAATATATA TATACGGAATATATATATAATATATATATGGAATATATATATACGGAATA TATATATAATATATATGGAATATATATAAACGGAATATATATATAATATA TATACGGAATATATATATACGGAATATATATAATATATATACGGAATATA TATATAATATATATATAATATATATACGGAATATATATATAATATATAAA TGGAATATATATACGGAATATATATATAATATATAAATGGAATATATATA TACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0133 a0001c0001t0036g0133	1	323	0.0031	454	c.-23 others(465): Show c.-2353_-2352insAATATATATACGGAATATATATATAATATATATA CGGAATATATATATACGGAATATATATATAATATATATATGGAATATATA TACACGGAATATATATATAATATATATGGAATATATATATACGGAATATA TATATAATATATATATGGAATATATATATACGGAATATATATATAATATA TATATGGAATATATATATACGGAATATATATATAATATATATATGGAATA TATATATACGGAATATATATATAATATATATGGAATATATATAAACGGAA TATATATATAATATATATACGGAATATATATATACGGAATATATATAATA TATATACGGAATATATATATAATATATATATAATATATATACGGAATATA TATATAATATATAAATGGAATATATATACGGAATATATATATAATATATA AATGGAATATATATATACGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2266		chr21	TogoVar
INSR_chr19_7107265_7299414	7153367	C C	CCACACAC others(447): Show CCACACACACCACACACCACACACACCAAACACACCATACATGCACCACA CACACACCACATGCACACCTCACACACCATACCACACACCACACACACCA CACAAATCACACACATACTACACACACCCACGCCACACACCACACACACA CCACACACGCCACACAACGGACCACACATACACCACACACCACAAACACA ACCACACACACACTATACACACACACCACACACACCACACAACAGACCAC ACATACACACACCACACACCACAAACACACACCATACACACACACCACAC ATACCACACACACCACACACACAACCACACACACACCACACACACAACAC ACAACAGACCACACATACACACACCACAAACACAACCACACACACCACAC ATACCACACACACACCACACACACAACCACACACACCACACCATACACAC AACCA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	300	0.0033	454	c.203 others(471): Show c.2030-441_2030-440insTGGTTGTGTGTATGGTGTGGTGTGTGTG GTTGTGTGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGTGGTTGTGTTT GTGGTGTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTG TGGTTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTG TGTTTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGT GGTGTGTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTAT GTGTGGTCCGTTGTGTGGCGTGTGTGGTGTGTGTGTGGTGTGTGGCGTGG GTGTGTGTAGTATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATG GTGTGTGAGGTGTGCATGTGGTGTGTGTGTGGTGCATGTATGGTGTGTTT GGTGTGTGTGGTGTGTGGTGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
KCNH1_chr1_210673314_211139148	210718386	T T	TTAATGCA others(447): Show TTAATGCATAAATATATGCATATATTTAATGCATAAATATATGCATATAT TTAATACATAAATATATGCATATATTTAATATATGCATATATTTAATACA TAAATATATGCATATATTTAATAAATATATGCATATATTTAATACATAAA TATATGCATATATTTAATACATAAATATATGCATATATTTAATACATAAA TATATGCATATATTTAATACATAAATATATGCATATATTTATATATAAAA TATATACATATATGTATATATATAAAATATATACATATATGTATATATAT AAAATATATACATATATGTATATATATAAAATATATACATATATGTATAT ATATAAAATATATACATATATGTATATATATAAAATATATACATATATGT ATATATATAAAATATATACATATATGTATATATATAAAATATATACATAT ATGTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0150 a0001c0002t0015g0150	1	164	0.0061	454	c.211 others(475): Show c.2113-34249_2113-34248insTACATATATGTATATATTTTATAT ATATACATATATGTATATATTTTATATATATACATATATGTATATATTTT ATATATATACATATATGTATATATTTTATATATATACATATATGTATATA TTTTATATATATACATATATGTATATATTTTATATATATACATATATGTA TATATTTTATATATATACATATATGTATATATTTTATATATAAATATATG CATATATTTATGTATTAAATATATGCATATATTTATGTATTAAATATATG CATATATTTATGTATTAAATATATGCATATATTTATGTATTAAATATATG CATATATTTATTAAATATATGCATATATTTATGTATTAAATATATGCATA TATTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATG CATTAAATATATGCATATATTTATGCATTA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNK10_chr14_88175108_88328269	88310155	C C	CATATACC others(447): Show CATATACCATATGATATGGTATATCATATACCATATCATATGGTATATCA TATACCATATGATATGGTATATCATATACCATATCATATGGTATATCATA TACCATATCATATGGTATATCATATACCATATCATATGGTATATCATATA CCATATCATATGGTATATCATATACCATATCATATGGTATATCATATACC ATATCATATGGTATATCATATACCATATCATATGGTATATCATATACCAT ATCATATGGTATATCATATACCATATCATATGGTATATCATATACCATAT CATATGGTATATCATATACCATATCATATGGTATATCATATACCATATCA TATGGTATATCATATACCATATCATATGGTATATCATATACCATATCATA TGGTATATCATATACCATATCATATGGTATATCATATACCATATCATATG GTATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0108 a0001c0001t0006g0108	1	334	0.0030	454	c.52+ others(471): Show c.52+12591_52+12592insTATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGATATACCATATGATATGGTATATGATATACC ATATGATATGGTATATGATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATATGATATACCATATGATATGGTATATGATATACCATAT GATATGGTATATGATATACCATATGATATGGTATATGATATACCATATGA TATGGTATATGATATACCATATGATATGGTATATGATATACCATATGATA TGGTATATGATATACCATATGATATGGTATATGATATACCATATGATATG GTATATGATATACCATATGATATGGTATATGATATACCATATGATATGGT ATATGATATACCATATCATATGGTATATGATATACCATATGATATGGTAT ATGATATACCATATCATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KREMEN1_chr22_29068035_29151820	29120078	A A	AGGAAACA others(447): Show AGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGA GGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGA GGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAG GGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAA GGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGT GATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGG AGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGG GAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGA AACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTG ATGAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp1 HG03209.hp2 others(2): Show HG02922.hp1 HG03139.hp1 HG03209.hp2 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0069 a0001c0001t0006 a0001c0001t0069	a0001c0001t0006g0347 a0001c0001t0006g0350 a0001c0001t0006g0351 others(2): Show a0001c0001t0006g0347 a0001c0001t0006g0350 a0001c0001t0006g0351 a0001c0001t0006g0352 a0001c0001t0069g0344	5	368	0.0136	454	c.353 others(471): Show c.353-1274_353-1273insCAGGGAGGAGGGAGAGGTGATGAAGGAA ACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATG AAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAG GTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGG AGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACA GGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATG GAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGG TGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGG GAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAG GGAGGAGGGAGAGGTGATGATGGAAA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(447): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGACGGTAGGGGTGATGAC GGTGATGATGGGGGTGGGGGGGGTGATGACGGTGATGTGGGGGTGATGAC GGTGGGGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTGATGG TGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGGTGGGG GTGGGGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGG GGTGATGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGGGGG TGGGGGTGAGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGG GTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGAC GGTGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0070 a0070	a0070c0073 a0070c0073	a0070c0073t0001 a0070c0073t0001	a0070c0073t0001g0016 a0070c0073t0001g0016	1	186	0.0054	454	c.956 others(471): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCCCCACCCCCA CCCCCACCATCATCACCCTCACCCCCACCCCCACCCCCACCCCCACCATC ATCACCCCCACCATCACCATCATCACCCCCACCCCCACCCCCACCATCAC CCCCACCATCATCACCCTCACCCCCACCCCCACCACCCTCACCATCATCA CCCCCACCCCCACCATCATCACCCCCACCATCACCATCATCACCCCCACC CCCACCATCATCACCCCCACCCCCACCGTCATCACCCCCACATCACCGTC ATCACCCCCCCCACCCCCATCATCACCGTCATCACCCCTACCGTCATCAC CCCCAGCCCCACCGTCATCACCCCCACCATCACCATCATCACCCCCACCC CCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LUZP2_chr11_24492053_25087638	24602247	T T	TATATGTA others(447): Show TATATGTACATATATGTGTATATATGTATATATGTACATATATGTGTATA TATGTATATATGTACATATATGTGTATATATGTATATATATGCAAACATA TATGTGTATATATGTGTATATATGCAAACATATATGTGTATATATGTATA TATATGCAAACATATATGTACATACATATATACACACATATATATGTACA TACATATATACACACATATATATGTACATACATATATACACACATATATA TGTACATACATATATACACACATATATATGTACATACATATATACACACA TATATATGTACATACATATATGCACACATATATATGTACATACATATATG CACACATATATATGTACATACATATATGCACACATATATATGTACATACA TATATGCACACATATATATGTACATACATATATGCACACATATATATGTA CATAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0029 a0005c0006t0029	a0005c0006t0029g0058 a0005c0006t0029g0058	1	116	0.0086	454	c.62+ others(473): Show c.62+104946_62+104947insGTACATATATGTGTATATATGTATAT ATGTACATATATGTGTATATATGTATATATGTACATATATGTGTATATAT GTATATATATGCAAACATATATGTGTATATATGTGTATATATGCAAACAT ATATGTGTATATATGTATATATATGCAAACATATATGTACATACATATAT ACACACATATATATGTACATACATATATACACACATATATATGTACATAC ATATATACACACATATATATGTACATACATATATACACACATATATATGT ACATACATATATACACACATATATATGTACATACATATATGCACACATAT ATATGTACATACATATATGCACACATATATATGTACATACATATATGCAC ACATATATATGTACATACATATATGCACACATATATATGTACATACATAT ATGCACACATATATATGTACATACATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
MAN2B2_chr4_6570189_6628362	6579259	C C	CCACCACC others(447): Show CCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCAC CACCATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCA CCATCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCA CCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACC ACCAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	362	0.0028	454	c.391 others(469): Show c.391+772_391+773insCCATCACCACCACCACCCTTCACCACCATC ACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCAC CACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ATCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCAT CACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCA CCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19478032	G G	GGGGGGAG others(447): Show GGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGA GAGGGGGAGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGGGAGA GGGGGAGAGGGGGAGAGGGGGAGAGGGGGGGAGGGGGAGAGGGGGGGAGG GGGGGAGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGG GGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAG GGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAG GGGGGAGGGGGGAGAGGGGGAGAGAGGGGGGAGAGGGGGAGAGAGGGGAG AGGGGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGAGAGGGGGGAG GGGGGAGAGGGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGGGGG GGAGA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0067 a0002c0002t0016g0067	1	163	0.0061	454	c.525 others(471): Show c.525+8449_525+8450insTCTCCCCCCCTCCCCCTCTCCCCCCTCC CCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCTCCCCCCT CTCCCCCCTCCCCCCTCTCTCCCCCCTCTCCCCTCTCTCCCCCTCTCCCC CCTCTCTCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCTCTCC CCCCTCCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCTCTCC CCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCTC CCCCCTCCCCCCCTCTCCCCCTCCCCCCCTCCCCCCCTCTCCCCCTCCCC CCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCCCCTCCCCCCTCTCC CCCTCTCCCCCCTCCCCCCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCC CTCTCCCCCTCTCCCCCCTCTCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(447): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATACATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATTCATATATATTCATATATATATTCATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATTCATATATATATTCATATATATATATTCATATATA TATTC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	191	0.0052	454	c.343 others(471): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATGAATATATATGAATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATGAATATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATGTATATATATGAATATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATATGAATCTATATATGAATATATATGAATCTATATAT GAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MTTP_chr4_99569824_99628997	99588815	A A	ACATATAT others(447): Show ACATATATATGTTCATATATATACACACATATATATGTTCATATATATAC ACACATATATATGTTCATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0108 a0003c0003t0001g0108	1	364	0.0028	454	c.394 others(469): Show c.394-819_394-818insGTTCATATATATACACACATATATATGTTC ATATATATACACACATATATATGTTCATATATATTCATATATATATGTTC ATATATATTCATATATATGTTCATATATATATTCATATATATGTTCATAT ATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MVP_chr16_29815462_29853021	29843550	G G	GAGGAAGG others(447): Show GAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAG TGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGT GAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGG AGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAA GGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAA GGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAG GGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGAGGAAGG GAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGGAGGGAGG GAGGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	230	0.0044	454	c.163 others(471): Show c.1635-940_1635-939insAAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGA GGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGG GAGTGAAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGG GAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGG AGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGG AGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGA GGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAG GGAGGGAGGGGAGGGAGGGAGGAAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NCAPG2_chr7_158626169_158709804	158667329	G G	GCCCTCCT others(447): Show GCCCTCCTTACCCACTACTGGGTCCCTCCGCCCCCCCTTACCCACTACTG GGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTAC CCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCC CTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTC CCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCA CTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTC CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTA CTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTT ACCCA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	378	0.0027	454	c.148 others(473): Show c.1480-2580_1480-2579insTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGG AGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAG TGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCG GGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGG GTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGGGGGC GGAGGGACCCAGTAGTGGGTAAGGAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NFATC1_chr18_79390930_79534323	79532211	C C	CTGCAGTC others(447): Show CTGCAGTCCCCGTGGCTGTCCCCTGTGCCTGCGTGCAGCACCCCTCGGCA GACCCTCCTGTCTCCGCCTGCAGTCCCCGTGGCTGTCCCCTGTGCCTGCG TGCAGCACCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0104 a0001c0001t0006g0104	1	322	0.0031	454	c.46 others(465): Show c.4634_*4635insTGCAGTCCCCGTGGCTGTCCCCTGTGCCTGCGTG CAGCACCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCGTGGCTG TCCCCTGTGCCTGCGTGCAGCACCCCTCGGCAGACCCTCCTGTCTCCGCC TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2889		chr18	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(447): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCC ACTTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCAT CCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGT CTGTCCCATCCATCCGTCCATCCGTCCATCCGTCCATCCATCCATCCATC CATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCC ATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCAT CCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18955.hp2 NA19056.hp1 NA19068.hp2 NA18955.hp2 NA19056.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0144 a0001c0001t0030g0163 a0001c0001t0030g0318 a0001c0001t0030g0144 a0001c0001t0030g0163 a0001c0001t0030g0318	3	366	0.0082	454	c.47 others(463): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCCACTT GTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGT CCCATCCATCCGTCCATCCGTCCATCCGTCCATCCATCCATCCATCCATT CTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCATCC ATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTC ATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(447): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCC ACTTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCAT CCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGT CCCATCCATCCGTCCATCCGTCCATCCGTCCATCCATCCATCCATCCATT CTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCATCC ATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTC ATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp2 NA19078.hp2 HG02074.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0189 a0001c0001t0050g0299 a0001c0001t0050g0189 a0001c0001t0050g0299	2	366	0.0055	454	c.47 others(463): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCCACTT GTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGTCCCA TCCATCCGTCCATCCGTCCATCCGTCCATCCATCCATCCATCCATTCTTC CATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCATCCATCC ATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCC ATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(447): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCC ACTTGTTCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGT CCCATCCATCCGTCCATCCGTCCGTCCGTCCATCCATCCATCCATCCATT CTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCATCC ATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTC ATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp2 HG02922.hp2 HG02717.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0051 a0001c0001t0052g0316 a0001c0001t0052g0051 a0001c0001t0052g0316	2	366	0.0055	454	c.47 others(463): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCCACTT GTTCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGTCCCA TCCATCCGTCCATCCGTCCGTCCGTCCATCCATCCATCCATCCATTCTTC CATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCATCCATCC ATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCC ATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(447): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCC ACTTGTTCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGT CCCATCCATCCGTCCATCCGTCCGTCCGTCCATCCATCCATTCATCCATT CTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCATCC ATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTC ATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG03195.hp1 HG02145.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0162 a0001c0001t0163 a0001c0001t0162 a0001c0001t0163	a0001c0001t0162g0164 a0001c0001t0163g0127 a0001c0001t0162g0164 a0001c0001t0163g0127	2	366	0.0055	454	c.47 others(463): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCCACTT GTTCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGTCCCA TCCATCCGTCCATCCGTCCGTCCGTCCATCCATCCATTCATCCATTCTTC CATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCATCCATCC ATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCC ATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(447): Show CTGTGTACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATA CCGTATATATACACAGTATGTATACTGCATACAGTATGTATACTGTATAC ATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATA CTGTATATATACACTATACAGTATGTATACTGTATATATACACACAGTAT GTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAGT ATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACA GTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACA CAGTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0011 a0001c0001t0023g0011	1	362	0.0028	454	c.-75 others(473): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAG TATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTAT GTATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGTA TGCAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATA CGGTATACATACTGTGTATATATACGGTATACATACATACAGTATACATA CATACAGTATACATGCTGTATACAGTATACATGCTGTATACAGTATACAT GCTGTATACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(447): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTG TATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACTGTAT ACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTA TACTGTATATATACACTATACAGTATGTATACTGTATATATACACACAGT ATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACA GTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACA CAGTA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0349	1	362	0.0028	454	c.-75 others(473): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATAT ATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATG CAGTATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACATACAGTATAC ATACATACAGTATACATACATACAGTATACATGCTGTACACAGTATACAT GCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NR5A2_chr1_200022710_200182415	200052446	G G	GAAGTGCT others(447): Show GAAGTGCTGGGATTACAGACAGGAGCCATTGTGCCTGTTTTATTCATTAA ATATCTGTCCTTTTCCTTGGTAACTTCACAGCAAATTACCTATCAAGTGA TATACTTATTGGACAGATTTTTTATACCTCTAAAACCCAAAGATGAAAAA TCACATATTTGCTCCTAATTAGGCAATTTTGAAATGACCTCTTTCTCACT CTCTTTTTTTTTTTGAGACGGAGTCTTGCTTTGTCGCCCAGGTTGGAGTG CAGTGGTGCGATCTTGGCTCATTGCAAGCTCCGCCTCTTGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCAC CACGCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGTGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTGCTGACCTTGCGATCCGCCCGCCTCGGCC TTCCA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0247 a0001c0001t0003g0247	1	286	0.0035	454	c.111 others(473): Show c.1110+4042_1110+4043insCGATCTGCTGACCTTGCGATCCGCCC GCCTCGGCCTTCCAAAGTGCTGGGATTACAGACAGGAGCCATTGTGCCTG TTTTATTCATTAAATATCTGTCCTTTTCCTTGGTAACTTCACAGCAAATT ACCTATCAAGTGATATACTTATTGGACAGATTTTTTATACCTCTAAAACC CAAAGATGAAAAATCACATATTTGCTCCTAATTAGGCAATTTTGAAATGA CCTCTTTCTCACTCTCTTTTTTTTTTTGAGACGGAGTCTTGCTTTGTCGC CCAGGTTGGAGTGCAGTGGTGCGATCTTGGCTCATTGCAAGCTCCGCCTC TTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTAC AGGTGCCTGCCACCACGCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG TGTTTCACCGTGTTAGCCAGGATGGTCT	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NRCAM_chr7_108142649_108461436	108164029	G G	GTGAGAGG others(447): Show GTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTG GGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTC ATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGCGG TAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCAGG TGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGG TCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGG GTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGG GTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGA GGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGG GGTAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	208	0.0048	454	c.346 others(473): Show c.3466+2891_3466+2892insTTACCCCACCCCACCCGGTATGACCT CTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCGCCACCCCACC CGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCACTACC CCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACC TCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCAC CTGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTAC CCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCGGTATGA CCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCC ACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCATT ACCCCACCCCACCCGGTATGACCTCTCA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108164090	G G	GTGAGAGG others(447): Show GTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTG GGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGT CATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGT AGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGG TGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGG TCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCG GTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGG GTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGCAGTAATGAGA GGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGG GGTAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	208	0.0048	454	c.346 others(473): Show c.3466+2830_3466+2831insTTACCCCACCCCACCCGGTATGACCT CTCACTACCCCACCCCACCTGGTATGACCTCTCATTACTGCCACCCCACC CGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCACTACC CCACCCCACCTGGTATGACCTCTCATTACCGCCACCCCACCCGGTATGAC CTCTCACTACCCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCAC CCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCATTAC CGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCTGGTATGA CCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCCCACCCCA CCCGGTATGACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCATT ACCCCACCCCACCCGGTATGACCTCTCA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(447): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGA AAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGG GAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAAGGGGAGGAAGAGGG GAGGGGAGGAGGAAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAG GGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAG GGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGG AAGGG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0109 a0001c0001t0018g0109	1	344	0.0029	454	c.154 others(471): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTC CCTTCTCCCTCCCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCC CTCCCCCACCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCC CCTCCTCCCCCCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(447): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGG TGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAG GGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAAGGGGAGGAAGA GGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGAGGAGGAAGGGGGAGGG GGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGG GGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAG GGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGGGGAGGGGAGGGG AGGAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18970.hp1 HG03017.hp2 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0130 a0002c0002t0020 a0002c0002t0130	a0002c0002t0020g0039 a0002c0002t0130g0049 a0002c0002t0020g0039 a0002c0002t0130g0049	2	344	0.0058	454	c.154 others(471): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCC TCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTTCCC CTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCCCCCTCCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTCCCCCTC CCCTCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(447): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCTCCC TCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCC TCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCC TCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCT TCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCCTTCCCCTTCC CCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTC CCCTCCCCCTTCCCTTCCCCTCCCCCTCCCCCTTCCCCTTCCCCTCCCCT CCACCCTTCCCCTTCCCTCCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTC CCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCC CCTCC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	326	0.0031	454	c.433 others(471): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGGAGGGAAGGGGAAGGGTGGAGGGGAGGGGAAGGGGAAGGGGG AGGGGGAGGGGAAGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGG GAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGGAGGGGAG GGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGGA AGGGGAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGG GAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGAGGG GAGGGGGGGGGAGGGGAGGGGAGGGGAGGGAGGGAGGGGGAGGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(447): Show TCCTCTCCTCCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCACCCTCCCCCCCTCCCC TTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCC CTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTC CCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC CCTCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0157 a0001c0001t0027g0157	1	326	0.0031	454	c.433 others(471): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP93_chr16_56725129_56855286	56739630	T T	TCCCCACC others(447): Show TCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCC CCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGG GTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTAGGGGGGCTG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0257 a0001c0003t0002g0258 a0001c0003t0002g0257 a0001c0003t0002g0258	2	378	0.0053	454	c.-14 others(471): Show c.-14-8568_-14-8567insAGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCC GGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCG GAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGTAGGGGGGCTGACCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739723	C C	CGATCCCC others(447): Show CGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCGCCCCTCACCTCCC AGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGG GGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGA GGGCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01243.hp1 HG01255.hp2 others(11): Show HG01070.hp2 HG01243.hp1 HG01255.hp2 HG01515.hp1 HG01928.hp2 HG02083.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG04199.hp2 NA18747.hp2 NA18948.hp1 NA18970.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0031 a0001c0001t0006 a0001c0001t0031	a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0006g0205 others(11): Show a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0006g0206 a0001c0001t0006g0207 a0001c0001t0006g0208 a0001c0001t0006g0210 a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0006g0213 a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0244 a0001c0001t0031g0209	14	378	0.0370	454	c.-14 others(471): Show c.-14-8509_-14-8508insTCCCCCCCACCTCCCTCCCGGACAGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACA GAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCTGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGAGGGCTGA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	952751	G G	GGGGGGGG others(447): Show GGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCAC GGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAA CCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAC AGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGG GGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACG GTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGG CAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCT GGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCAC ACTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	242	0.0041	454	c.360 others(473): Show c.360+26567_360+26568insACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACC GTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCC CCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTG TCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGT TCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCG TGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCA CAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGA CTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAA CCTTGGTCTGTCTGACTCCAGCCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPRM1_chr6_154034240_154137356	154099659	G G	GTATATAC others(447): Show GTATATACATATATACATATATATACACACATGTATATACATATATACAT ATATATATACACACATGTATATACATATATACATATATATACACACATGT ATATACATATATACATATATATATACACACATGTATATACATATATACAT ATATATATACACACATGTATATACATATATACATATATATATACACACAT GTATATACATATATACATATATATATACACACATGTATATACATATATAC ATATATATACACACATGTATATACATATATACATATGTATACACACACAT GTATATACATATATACATATATATACACACACATGTATATACATATATAC ATATATATATACACACATGTATATACATATATACATATATATACACACAT GTATATACATATATACATATATATACACACACATGTATATACATATATAC ATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0040 a0003c0003t0040	a0003c0003t0040g0243 a0003c0003t0040g0243	1	268	0.0037	454	c.116 others(473): Show c.1164+8203_1164+8204insTATATATACACACATGTATATACATA TATACATATATATATACACACATGTATATACATATATACATATATATACA CACATGTATATACATATATACATATATATATACACACATGTATATACATA TATACATATATATATACACACATGTATATACATATATACATATATATATA CACACATGTATATACATATATACATATATATATACACACATGTATATACA TATATACATATATATACACACATGTATATACATATATACATATGTATACA CACACATGTATATACATATATACATATATATACACACACATGTATATACA TATATACATATATATATACACACATGTATATACATATATACATATATATA CACACATGTATATACATATATACATATATATACACACACATGTATATACA TATATACATATATATATACATATATACA	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(447): Show AAGAGGGGGAAGATGGGAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGACGGGAGGAGGAGTGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAA AGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGACGGGAG AAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGG GAAGATGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGAA AAGAGGGGGAAGATGGGAGGGGGAGGAGAGGAAAGAGGGGGAAGACGGGA AGAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGGGGG AAGACGGGAGGAGGAGGACAGGAAAGAGGGGGAAGATGGGAGGAGAAGAG GAAAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0163 a0001c0002t0024g0163	1	326	0.0031	454	c.162 others(473): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCCATCTTCCC CCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCCTCC TCCCGTCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTCCCCCTCTTTCC TCTCCTCCCCCTCCCATCTTCCCCCTCTTTTCTCTCCTCCTCCCATCTTC CCCCTCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTC CTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCGTCTTCCCCCTCTTTC CTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCATCTT CCCCCTCTTTCCACTCCTCCTCCCGTCTTCCCCCCTTTCCTCTCCTCCTC CCATCTTCCCCCCTTTCCTCTTCTCCTCCTCCCATCTTCCCCCTCCTTCC TCTCCTCCCCTTCCCATCTTCCCCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
PCSK6_chr15_101298933_101494707	101311736	C C	CCCCTCAC others(447): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCG TCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCG TCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCG TCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCG TCACA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0192 a0001c0002t0001g0192	1	336	0.0030	454	c.269 others(473): Show c.2699+1639_2699+1640insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GTGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAG GGTGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGA GGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGA GGGGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PHKG2_chr16_30743425_30766176	30752218	C C	CAAAACCC others(447): Show CAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTG CACGCCTGTAAGCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCACTTG AACCCGAGAAGTGGAGGCTGCAGTGAGCCGAGATCATGCCATTGCGATTC TCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCCTGCCACCACA CCTGGTTAATTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTGAACAGA CTGCGGCCAGGTACAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGG CCAAGACGGGCAGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAAC ATGAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 NA18990.hp1 HG00609.hp2 HG00621.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0071 a0001c0001t0002g0018 a0001c0001t0002g0071	3	264	0.0114	454	c.326 others(469): Show c.326+615_326+616insAAAACCCCGTCTCTACTAAAAATACAAAAA TTAGCTGGGTGTGGTGGTGCACGCCTGTAAGCCCATCTACTCGGGAGGCT GAGGCAGGAGAATCACTTGAACCCGAGAAGTGGAGGCTGCAGTGAGCCGA GATCATGCCATTGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACT ACAGATGCCTGCCACCACACCTGGTTAATTTTTGTATTTTTTTAGTAGAG ACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC TGCGCCCAGCCTGAACAGACTGCGGCCAGGTACAGTGGCTCACGCCTGTA ATTCCAGCACTTTGGGAGGCCAAGACGGGCAGATCATGAGGTCAAGAGAT CGAGACCATCCTGGCCAACATGAT	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	4/9			chr16	TogoVar
PHKG2_chr16_30743425_30766176	30752218	C C	CGAAACCC others(447): Show CGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTG CACGCCTGTAAGCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCACTTG AACCCGAGAAGTGGAGGCTGCAGTGAGCCGAGATCATGCCATTGCGATTC TCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCCTGCCACCACA CCTGGTTAATTTTTGCATTTTTTTAGTAGAGACGGGGTTTCACCATGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTGAACAGA CTGCGGCCAGGTACAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGG CCAAGACGGGCAGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAAC ATGAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	264	0.0038	454	c.326 others(469): Show c.326+636_326+637insATACAAAAATTAGCTGGGTGTGGTGGTGCA CGCCTGTAAGCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAA CCCGAGAAGTGGAGGCTGCAGTGAGCCGAGATCATGCCATTGCGATTCTC CTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCCTGCCACCACACC TGGTTAATTTTTGCATTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTGAACAGACT GCGGCCAGGTACAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCC AAGACGGGCAGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACAT GATGAAACCCCGTCTCTACTAAAA	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHKG2_chr16_30743425_30766176	30752218	C C	CGAAACCC others(447): Show CGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTG CACGCCTGTAAGCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCACTTG AACCCGAGAAGTGGAGGCTGCAGTGAGCCGAGATCATGCCATTGCGATTC TCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCCTGCCACCACA CCTGGTTAATTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTGAACAGA CTGCGGCCAGGTACAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGG CCAAGACGGGCAGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAAC ATGAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02738.hp1 HG03017.hp1 others(10): Show HG02683.hp1 HG02738.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG04184.hp1 HG04204.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0014 a0001c0001t0001g0075 a0001c0001t0001g0084 others(8): Show a0001c0001t0001g0014 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0028g0104	13	264	0.0492	454	c.326 others(469): Show c.326+636_326+637insATACAAAAATTAGCTGGGTGTGGTGGTGCA CGCCTGTAAGCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAA CCCGAGAAGTGGAGGCTGCAGTGAGCCGAGATCATGCCATTGCGATTCTC CTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCCTGCCACCACACC TGGTTAATTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTGAACAGACT GCGGCCAGGTACAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCC AAGACGGGCAGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACAT GATGAAACCCCGTCTCTACTAAAA	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHKG2_chr16_30743425_30766176	30752218	C C	CGAAACCC others(447): Show CGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTG CACGCCTGTAAGCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCACTTG AACCCGAGAAGTGGAGGCTGCAGTGAGCCGAGATCATGCCATTGCGATTC TCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCCTGCCACCACA CCTGGTTAATTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTGAACAGA CTGCGGCCAGGTACAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGG CCAAGACGGGCAGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAAC ATGAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(237): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0003t0002 a0002c0002t0002 a0002c0002t0008 a0003c0005t0002 a0004c0004t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(165): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0101 a0001c0001t0002g0137 a0001c0001t0003g0011 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0025 a0001c0001t0003g0056 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0085 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0117 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0004g0004 a0001c0001t0004g0006 a0001c0001t0004g0015 a0001c0001t0004g0110 a0001c0001t0004g0120 a0001c0001t0004g0144 a0001c0001t0004g0153 a0001c0001t0004g0164 a0001c0001t0005g0024 a0001c0001t0005g0077 a0001c0001t0005g0102 a0001c0001t0005g0111 a0001c0001t0005g0119 a0001c0001t0005g0141 a0001c0001t0005g0156 a0001c0001t0006g0054 a0001c0001t0006g0064 a0001c0001t0006g0094 a0001c0001t0006g0149 a0001c0001t0006g0162 a0001c0001t0007g0002 a0001c0001t0007g0068 a0001c0001t0008g0020 a0001c0001t0008g0072 a0001c0001t0008g0100 a0001c0001t0010g0030 a0001c0001t0011g0007 a0001c0001t0012g0116 a0001c0001t0013g0022 a0001c0001t0014g0013 a0001c0001t0015g0002 a0001c0001t0016g0007 a0001c0001t0017g0011 a0001c0001t0018g0005 a0001c0001t0019g0139 a0001c0001t0020g0017 a0001c0001t0021g0007 a0001c0001t0022g0046 a0001c0001t0023g0057 a0001c0001t0024g0002 a0001c0001t0025g0135 a0001c0001t0027g0028 a0001c0001t0029g0002 a0001c0001t0030g0081 a0001c0003t0002g0001 a0002c0002t0002g0008 a0002c0002t0008g0020 a0003c0005t0002g0002 a0004c0004t0002g0060	240	264	0.9091	454	c.326 others(469): Show c.326+636_326+637insATACAAAAATTAGCTGGGTGTGGTGGTGCA CGCCTGTAAGCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAA CCCGAGAAGTGGAGGCTGCAGTGAGCCGAGATCATGCCATTGCGATTCTC CTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCCTGCCACCACACC TGGTTAATTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTGAACAGACT GCGGCCAGGTACAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCC AAGACGGGCAGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACAT GATGAAACCCCGTCTCTACTAAAA	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHKG2_chr16_30743425_30766176	30752218	C C	CGAAACCC others(447): Show CGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTG CACGCCTGTAAGCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCACTTG AACCCGAGAAGTGGAGGCTGCAGTGAGCCGAGATCATGCCATTGCGATTC TCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCCTGCCACCACA CCTGGTTAATTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTGAACAGA CTGCGGCCAGGTACAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGG CCAAGACGGGCAGATCCTGAGGTCAAGAGATCGAGACCATCCTGGCCAAC ATGAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	264	0.0038	454	c.326 others(469): Show c.326+636_326+637insATACAAAAATTAGCTGGGTGTGGTGGTGCA CGCCTGTAAGCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAA CCCGAGAAGTGGAGGCTGCAGTGAGCCGAGATCATGCCATTGCGATTCTC CTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCCTGCCACCACACC TGGTTAATTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTGAACAGACT GCGGCCAGGTACAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCC AAGACGGGCAGATCCTGAGGTCAAGAGATCGAGACCATCCTGGCCAACAT GATGAAACCCCGTCTCTACTAAAA	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHKG2_chr16_30743425_30766176	30752218	C C	CGAAACCC others(447): Show CGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTG CACGCCTGTAAGCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCACTTG AACCCGAGAAGTGGAGGCTGCAGTGAGCCGAGATCATGCCATTGCGATTC TCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCCTGCCACCACA CCTGGTTAATTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTGAACAGA CTGCGGCCAGGTACAGTGGCTCACGCCTGTAATTCCAGTACTTTGGGAGG CCAAGACAGGCAGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAAC ATGAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02818.hp1 HG02970.hp2 others(1): Show HG02055.hp2 HG02818.hp1 HG02970.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0026 a0001c0001t0009 a0001c0001t0026	a0001c0001t0009g0099 a0001c0001t0009g0108 a0001c0001t0009g0128 others(1): Show a0001c0001t0009g0099 a0001c0001t0009g0108 a0001c0001t0009g0128 a0001c0001t0026g0125	4	264	0.0152	454	c.326 others(469): Show c.326+636_326+637insATACAAAAATTAGCTGGGTGTGGTGGTGCA CGCCTGTAAGCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAA CCCGAGAAGTGGAGGCTGCAGTGAGCCGAGATCATGCCATTGCGATTCTC CTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCCTGCCACCACACC TGGTTAATTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTGAACAGACT GCGGCCAGGTACAGTGGCTCACGCCTGTAATTCCAGTACTTTGGGAGGCC AAGACAGGCAGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACAT GATGAAACCCCGTCTCTACTAAAA	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHKG2_chr16_30743425_30766176	30752218	C C	CGAAACCC others(447): Show CGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTG CACGCCTGTAAGCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCACTTG AACCCGAGAAGTGGAGGCTGCAGTGAGCCGAGATCATGCCATTGCGATTC TCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCCTGCCACCACA CCTGGTTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTGAACAGA CTGCGGCCAGGTACAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGG CCAAGACGGGCAGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAAC ATGAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0051 a0001c0006t0002g0051	1	264	0.0038	454	c.326 others(469): Show c.326+636_326+637insATACAAAAATTAGCTGGGTGTGGTGGTGCA CGCCTGTAAGCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAA CCCGAGAAGTGGAGGCTGCAGTGAGCCGAGATCATGCCATTGCGATTCTC CTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCCTGCCACCACACC TGGTTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTGAACAGACT GCGGCCAGGTACAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCC AAGACGGGCAGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACAT GATGAAACCCCGTCTCTACTAAAA	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571088	T T	TGTGTGTG others(447): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCT CCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTA GCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGG GGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGC GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGG CGCCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0193 a0002c0001t0001g0193	1	408	0.0025	454	c.-10 others(471): Show c.-10+1012_-10+1013insGTGTGTCTGGCTAGCCTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGT GTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGG CTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGC TCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCT AGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGG GGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAG CGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTG GCGCCCGTGTGTGTGTGTGTGTGTGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24109274	C C	CGGGCGGG others(447): Show CGGGCGGGGGGCTGACCCCCCCACCCATCTCCCTCCCGGACGGGGCGGCT GGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCAAGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCAG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02717.hp1 HG01167.hp2 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0059 a0001c0012t0024 a0001c0002t0059 a0001c0012t0024	a0001c0002t0059g0096 a0001c0012t0024g0022 a0001c0002t0059g0096 a0001c0012t0024g0022	2	148	0.0135	454	c.822 others(471): Show c.822-3675_822-3674insCATCTCCCTCCCGGACGGGGCGGCTGGC CTGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGATCCCCCCACCTCCCTCCAAGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCAGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG TGGGGCGGGGGGCTGACCCCCCCACC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24109274	C C	CGGGCGGG others(447): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAC CCATCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC CACCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGATCCCCCC ACCTCCCTCCAAGATGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGG CTGGCCTGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGATGGGGCGGC TGGTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG01192.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0105 a0001c0001t0015g0074 a0001c0001t0003g0105 a0001c0001t0015g0074	2	148	0.0135	454	c.822 others(471): Show c.822-3664_822-3663insCGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCCATCTCCCTCCCG GACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTTCCGG ACGGGGCGGCTGGCCGGGCGAGGGGCTGATCCCCCCACCTCCCTCCAAGA TGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGC CGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCTGGCGGGG GGCTGACCCCCCTACCTCCCTCCCGGATGGGGCGGCTGGTGGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGA	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24109274	C C	CGGGCGGG others(447): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAC CCATCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC CCACCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGATCCCCC CACCTCCCTCCAAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGG CTGGCCTGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGATGGGGCGGC TGGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0020 a0001c0002t0013g0020	1	148	0.0068	454	c.822 others(471): Show c.822-3664_822-3663insCGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCCATCTCCCTCCCG GACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCACCTCCCTTCCG GACGGGGCGGCTGGCCGGGCGAGGGGCTGATCCCCCCACCTCCCTCCAAG ATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGC CGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCTGGCGGGG GGCTGACCCCCCTACCTCCCTCCCGGATGGGGCGGCTGGTGGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGA	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(447): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATG GGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGT GGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTG GTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGAT GATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGT GGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	374	0.0027	454	c.-46 others(465): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGAT GGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATG GTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGT AATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGT GGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(447): Show AAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	276	0.0036	454	c.132 others(471): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39348443	A A	AAAGGGAA others(447): Show AAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAA AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGG AAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAA AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGG AAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAA AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGG AAAGG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0059 a0001c0003t0001g0059	1	276	0.0036	454	c.132 others(471): Show c.132+2904_132+2905insCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC CCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCC TTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC CCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCC TTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC CCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCC TTTCCCTTTCCCTTTCCCTTTCCCTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(447): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	280	0.0036	454	c.3+2 others(469): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF213_chr17_80255852_80403794	80355637	G G	GGGAAGAA others(447): Show GGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACGGGGGAAGAAGCGGG GTGAATGGGAATGGGGGCTTACAGAGGAAGAAGCGACGAAGAAGTGGGGT GACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGTGAACAGGATTGGG GGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGG AAGAAGCGGGGTGGACGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGT GGACGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGTGACCGGGAATGGG AGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTCACGGAGGA AGAAGCGGGGTGGATGGGAATCGGGGCTCACGGAGGAAGAGGGGTGACCG GGAATGGGGGCTCACAGAGGAAGAAGCGGGGTGACCGGGATTGGGGGCTT ATGGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0027 a0027	a0027c0038 a0027c0038	a0027c0038t0006 a0027c0038t0006	a0027c0038t0006g0007 a0027c0038t0006g0007	1	292	0.0034	454	c.108 others(475): Show c.10862+1076_10862+1077insAATGGGAATGGGGGCTTACGGGGG AAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGAGGAAGAAGCGACGAA GAAGTGGGGTGACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGTGAA CAGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGC TTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACAGGGGGAA GAAGCGGGGTGGACGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGTGAC CGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGC TCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGGGCTCACGGAGGAAGA GGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGCGGGGTGACCGGGA TTGGGGGCTTATGGAGGAAGAAGCGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar

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