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
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(365): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	408	0.0025	372	c.53+ others(387): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(365): Show CCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTC CCTCCCTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TCCCTTCCTCCCTCCCTCCTCCCTCCCTCCCTCCCTCCTTCCTCCCTCCC TCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCT CCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTT CCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0023 a0023	a0023c0036 a0023c0036	a0023c0036t0001 a0023c0036t0001	a0023c0036t0001g0276 a0023c0036t0001g0276	1	326	0.0031	372	c.483 others(387): Show c.483+381_483+382insTTCCTCCCTCCCTCCTGCCTCCCTCCCTCC CTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTCCCTTCCTCCCTCCCTCCTCCCTCCCTCCCTCCCT CCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTC CCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGC CTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZFPM2_chr8_105313438_105809539	105380794	T T	TTATAATA others(365): Show TTATAATATATATAACATATAATATATATGTTATATATATTATAATATAT ATAACATATAATATATATGTTATATATATTATAATATATATAACATATAA TATATATGTTATATATATTATAATATATATAACATATAATATATATGTTA TATATATTATAATATATATAACATATAATATATATGTTATATATATTATA ATATATATAACATATAATATATATGTTATATATATTATAATATATATAAC ATATAATATATATGTTATATATATTATAATATATATAACATATAATATAT ATGTTATATATATTATAATATATATAACATATAATATATATGTTATATAT ATTATAATATATATAACATATAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0001 a0009c0007t0001	a0009c0007t0001g0008 a0009c0007t0001g0008	1	92	0.0109	372	c.41- others(389): Show c.41-38346_41-38345insATATATATAACATATAATATATATGTTA TATATATTATAATATATATAACATATAATATATATGTTATATATATTATA ATATATATAACATATAATATATATGTTATATATATTATAATATATATAAC ATATAATATATATGTTATATATATTATAATATATATAACATATAATATAT ATGTTATATATATTATAATATATATAACATATAATATATATGTTATATAT ATTATAATATATATAACATATAATATATATGTTATATATATTATAATATA TATAACATATAATATATATGTTATATATATTATAATATATATAACATATA ATATATATGTTATATATATTATAATATATATAACATATAATATA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZFPM2_chr8_105313438_105809539	105380794	T T	TTATAATA others(365): Show TTATAATATATATAATATATAATATATATGTTATATATATTATAATATAT ATAACATATAATATATATGTTATATATATTATAATATATATAACATATAA TATATATGTTATATATATTATAATATATATAACATATAATATATATGTTA TATATATTATAATATATATAACATATAATATATATGTTATATATATTATA ATATATATAACATATAATATATATGTTATATATATTATAATATATATAAC ATATAATATATATGTTATATATATTATAATATATATAACATATAATATAT ATGTTATATATATTATAATATATATAACATATAATATATATGTTATATAT ATTATAATATATATAACATATAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	92	0.0109	372	c.41- others(389): Show c.41-38346_41-38345insATATATATAATATATAATATATATGTTA TATATATTATAATATATATAACATATAATATATATGTTATATATATTATA ATATATATAACATATAATATATATGTTATATATATTATAATATATATAAC ATATAATATATATGTTATATATATTATAATATATATAACATATAATATAT ATGTTATATATATTATAATATATATAACATATAATATATATGTTATATAT ATTATAATATATATAACATATAATATATATGTTATATATATTATAATATA TATAACATATAATATATATGTTATATATATTATAATATATATAACATATA ATATATATGTTATATATATTATAATATATATAACATATAATATA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF511_chr10_133303914_133318161	133317946	A A	ACCCCCCC others(365): Show ACCCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCGCCCAGACAC AGAGATGGAAAGACCACACCCCCCCCAGACACAGAGATGGAAAGACCACA CCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCCCCCAGACACAG AGATGGAAAGACCACACACCCCCCCCAGACACAGAGATGGAAAGACCACA CACCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCAGACACAGA GATGGAAAGACCACACCTCCCCCCCAGACACAGAGATGGAAAGACCACAC CCCCCCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCCAGACACA GAGATGGAAAGACCACACACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18990.hp2 NA18971.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	282	0.0071	372	c.50 others(383): Show c.5080_*5081insCCCCCCCCCAGACACAGAGATGGAAAGACCACAC ACCCCGCCCAGACACAGAGATGGAAAGACCACACCCCCCCCAGACACAGA GATGGAAAGACCACACCCCCCCCAGACACAGAGATGGAAAGACCACACAC CCCCCCCAGACACAGAGATGGAAAGACCACACACCCCCCCCAGACACAGA GATGGAAAGACCACACACCCCCAGACACAGAGATGGAAAGACCACACCCC CCCCCCAGACACAGAGATGGAAAGACCACACCTCCCCCCCAGACACAGAG ATGGAAAGACCACACCCCCCCCCCCCCAGACACAGAGATGGAAAGACCAC ACACCCCCAGACACAGAGATGGAAAGACCACACACCCC	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4786		chr10	TogoVar
ABCA7_chr19_1035107_1070572	1052625	A A	AGAGGAGG others(366): Show AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA GAAGGGGAGGAGTAGGAGGGGGAGGAGGGAGGGGGAGGGAGAGGAGGAGG GGGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAGTA GGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGAGGGAGAGA GAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGGAGGGG GAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGAAAGAGGAGGG GGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGAAGAAGGGGAA GAATAAGGGGGGAGGAGTAAGGGG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0023 a0023	a0023c0012 a0023c0012	a0023c0012t0002 a0023c0012t0002	a0023c0012t0002g0030 a0023c0012t0002g0030	1	30	0.0333	373	c.322 others(390): Show c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGG AGGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGTAGAG GAGGAGGAGGAGGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAG GGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAG GAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGG AGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGA GGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGTAAGGGG	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	23/46			chr19	TogoVar
ACSF3_chr16_89088852_89161233	89158491	C C	CACACATG others(366): Show CACACATGCCTGCATACACCACATGTATGTCACACACATCTGCATATATC ACTTGTATGTGTCTCACACACCTGCATACACATATATGCCTCACACGCCT GCATCTATCATGTGTGTGTCTCACACACCTGCATATATCACATGTATGTG TCTCACAGCTGCATACACCACAGGTATGTGTCTCACACACGCCTGCATAT ATCACATGTATGTGTATCTCACACGCCTGCATATGTCACATGTATGTGTA TCTCACACGCCTGCGTATATCACATGTATGTGTGTGTCACACACACACCT GCATACATACAGGCACATGGACACCTGTGTGCACACCAGTCCCTCCCTTC CCCGTCACCATCAGGTTCAGCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01168.hp1 others(6): Show HG01070.hp2 HG01071.hp1 HG01168.hp1 HG01256.hp1 HG01258.hp1 HG02080.hp2 NA18966.hp2 NA19079.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0189 a0001c0001t0002g0190 others(5): Show a0001c0001t0002g0003 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0197	9	368	0.0245	373	c.42 others(384): Show c.4284_*4285insACACATGCCTGCATACACCACATGTATGTCACAC ACATCTGCATATATCACTTGTATGTGTCTCACACACCTGCATACACATAT ATGCCTCACACGCCTGCATCTATCATGTGTGTGTCTCACACACCTGCATA TATCACATGTATGTGTCTCACAGCTGCATACACCACAGGTATGTGTCTCA CACACGCCTGCATATATCACATGTATGTGTATCTCACACGCCTGCATATG TCACATGTATGTGTATCTCACACGCCTGCGTATATCACATGTATGTGTGT GTCACACACACACCTGCATACATACAGGCACATGGACACCTGTGTGCACA CCAGTCCCTCCCTTCCCCGTCACCATCAGGTTCAGCCGG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding		2259		chr16	TogoVar
ACTRT3_chr3_169761921_169774561	169770384	A A	AATATAAT others(366): Show AATATAATATAAATATAAATTTTATATATGATATATAAATATAAATTTTT ATATATGATATAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAATATAAATTTTTATATATGATATAATAAATATAAA ATTTTTATATATGATATATAAATATAAATTTTTTATATATGATATAATTA AATATAAATTTTATATATGATATATAAATATAAATTTTATATATGATATA TAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGA TATATAAATATAAATTTTTATATATGATATATAAAAATTTTTATTTATAT ATCATATAAAATTTATTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	373	c.-86 others(382): Show c.-865_-864insGATATATAATAAATTTTATATGATATATAAATAAAA ATTTTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAATTTATATTTATATATCATATATAAAATTTATATTTAATTATATCAT ATATAAAAAATTTATATTTATATATCATATATAAAAATTTTATATTTATT ATATCATATATAAAAATTTATATTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTATATCATATATAAAAATTTATAT TTATATATCATATATAAAATTTATATTTATATTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		824		chr3	TogoVar
ADARB2_chr10_1172313_1742525	1459943	T T	TAGCAAAC others(366): Show TAGCAAACCTGCCTGTGACCTGAGTTTACCTGCGTAACAAACCTGCCTGT GACCTGAGTTTACCTGTGTAGCAAACCTGCCTGTGACCTGAGTTTACCTG CGTAACGAACCTGCCTGTGACCTGAATTTACCTGCGTAACAAACCTGCCT GTGACCTGAGTTTACCTGCGTAACAAACCTGCCTGTGACCTGAGTTTACC TGCGTAACGAACCTGCCTGTGACCTGAGTTTACCTGCGTAACAAACCTGC CTGTGACCTGAGTTTACCTGTGTAACGAACCTGCCTGTGACCTGAGTTTA CCTGTGTAACAAACCTGCCTGTGACCTGAATTTACCTGCGTAACGAACCT GCCTGTGACCTGAGTTTACCTGTG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0008 a0002c0015t0008	a0002c0015t0008g0060 a0002c0015t0008g0060	1	106	0.0094	373	c.101 others(392): Show c.101-80784_101-80783insCACAGGTAAACTCAGGTCACAGGCAG GTTCGTTACGCAGGTAAATTCAGGTCACAGGCAGGTTTGTTACACAGGTA AACTCAGGTCACAGGCAGGTTCGTTACACAGGTAAACTCAGGTCACAGGC AGGTTTGTTACGCAGGTAAACTCAGGTCACAGGCAGGTTCGTTACGCAGG TAAACTCAGGTCACAGGCAGGTTTGTTACGCAGGTAAACTCAGGTCACAG GCAGGTTTGTTACGCAGGTAAATTCAGGTCACAGGCAGGTTCGTTACGCA GGTAAACTCAGGTCACAGGCAGGTTTGCTACACAGGTAAACTCAGGTCAC AGGCAGGTTTGTTACGCAGGTAAACTCAGGTCACAGGCAGGTTTGCT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
AGAP1_chr2_235489043_236136793	235999563	A A	ATGATGAC others(366): Show ATGATGACCAATATGATATGGTGGTGATGATGGTGAGAGGTGGTGGTGGT GGTGATGATGGTGGTAGTGATTGTGGTGACGATGGTGAGAGGTGGTGGTG GTGATGATGGTGGTAGTGATTGTGGTGACGATGGTGAGAGGTGGTGGTGG TGATGATGGTGGTGGTGGTGGTCGTGGTGGTGATGATAGTGGTAATGGCG ACGATGGCAGTTTGATGACCAATATGGTATGGTGGTGATGATGGTGAGAG GTGGTGGTGGTGGTGATGATGGTGGTAGTGATTGTGGTGACAATGGTGAG AGGTGGTGGTGGTGATGATGGTGGTGGTGGTGATCGTGGTGGTGATGATA GTGGTAATGGCGACGATGGCAGTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	1	98	0.0102	373	c.164 others(394): Show c.1645+31053_1645+31054insAGTGATTGTGGTGACGATGGTGAG AGGTGGTGGTGGTGATGATGGTGGTGGTGGTGGTCGTGGTGGTGATGATA GTGGTAATGGCGACGATGGCAGTTTGATGACCAATATGGTATGGTGGTGA TGATGGTGAGAGGTGGTGGTGGTGGTGATGATGGTGGTAGTGATTGTGGT GACAATGGTGAGAGGTGGTGGTGGTGATGATGGTGGTGGTGGTGATCGTG GTGGTGATGATAGTGGTAATGGCGACGATGGCAGTTTGATGACCAATATG ATATGGTGGTGATGATGGTGAGAGGTGGTGGTGGTGGTGATGATGGTGGT AGTGATTGTGGTGACGATGGTGAGAGGTGGTGGTGGTGATGATGGTGGT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235999563	A A	ATGATGAC others(366): Show ATGATGACCAATATGATATGGTGGTGATGATGGTGAGAGGTGGTGGTGGT GGTGATGATGGTGGTAGTGATTGTGGTGACGATGGTGAGAGGTGGTGGTG GTGATGATGGTGGTAGTGATTGTGGTGACGATGGTGAGAGGTGGTGGTGG TGATGATGGTGGTGGTGGTGGTCGTGGTGGTGATGATAGTGGTAATGGCG ACGATGGCAGTTTGATGACCAATATGGTATGGTGGTGATGATGGTGAGAG GTGGTGGTGGTGGTGATGATGGTGGTAGTGATTGTGGTGACGATGGTGAG AGGTGGTGGTGGTGATGATGGTGGTGGTGGTGATCGTGGTGGTGATGATA GTGGTAATGGCGACGATGGCAGTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03139.hp1 HG03453.hp2 others(3): Show HG02145.hp2 HG03139.hp1 HG03453.hp2 HG03516.hp2 NA18522.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0014 others(2): Show a0001c0001 a0001c0003 a0001c0014 a0001c0019 a0003c0015	a0001c0001t0010 a0001c0003t0002 a0001c0003t0020 others(3): Show a0001c0001t0010 a0001c0003t0002 a0001c0003t0020 a0001c0014t0016 a0001c0019t0007 a0003c0015t0002	a0001c0001t0010g0003 a0001c0003t0002g0005 a0001c0003t0020g0053 others(3): Show a0001c0001t0010g0003 a0001c0003t0002g0005 a0001c0003t0020g0053 a0001c0014t0016g0048 a0001c0019t0007g0056 a0003c0015t0002g0075	6	98	0.0612	373	c.164 others(394): Show c.1645+31053_1645+31054insAGTGATTGTGGTGACGATGGTGAG AGGTGGTGGTGGTGATGATGGTGGTGGTGGTGGTCGTGGTGGTGATGATA GTGGTAATGGCGACGATGGCAGTTTGATGACCAATATGGTATGGTGGTGA TGATGGTGAGAGGTGGTGGTGGTGGTGATGATGGTGGTAGTGATTGTGGT GACGATGGTGAGAGGTGGTGGTGGTGATGATGGTGGTGGTGGTGATCGTG GTGGTGATGATAGTGGTAATGGCGACGATGGCAGTTTGATGACCAATATG ATATGGTGGTGATGATGGTGAGAGGTGGTGGTGGTGGTGATGATGGTGGT AGTGATTGTGGTGACGATGGTGAGAGGTGGTGGTGGTGATGATGGTGGT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGMO_chr7_15195317_15567015	15530071	G G	GATATTCT others(366): Show GATATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATATA TTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATATATTCT ATATACGTATTTCCATATATTCTATATACGTATTTCCATATAGATATTCT ATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATA TTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATA GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCA TATATTCTATATACGTATTTCCAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	236	0.0042	373	c.409 others(392): Show c.409+14700_409+14701insATGGAAATACGTATATAGAATATATG GAAATACGTATATAGAATATATGGAAATACGTATATAGAATATCTATATG GAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAG AATATCTATATGGAAATACGTATATAGAATATATGGAAATACGTATATAG AATATATGGAAATACGTATATAGAATATATGGAAATACGTATATAGAATA TATGGAAATACGTATATAGAATATATGGAAATACGTATATAGAATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(366): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACC CTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCC TGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCC CCCCTCCACCTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01517.hp1 others(1): Show HG01109.hp1 HG01243.hp2 HG01517.hp1 HG02683.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0019 a0003c0004t0004 a0003c0004t0012 a0002c0002t0019 a0003c0004t0004 a0003c0004t0012	a0002c0002t0019g0007 a0003c0004t0004g0009 a0003c0004t0004g0011 others(1): Show a0002c0002t0019g0007 a0003c0004t0004g0009 a0003c0004t0004g0011 a0003c0004t0012g0001	4	268	0.0149	373	c.-37 others(384): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCC CTCTCCCCCTCATCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCC CCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(366): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCC ACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCC CCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCCACCCCCCACCTCC CCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCAC CCCCCACCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCC CCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCC CCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0075 a0001c0009t0075	a0001c0009t0075g0153 a0001c0009t0075g0153	1	254	0.0039	373	c.39+ others(390): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCC CACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCAC CTCCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCCACCCCC CACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTAC CCCCCACCCCCCACCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCA CCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCC ACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112828190	A A	ATTGAGTG others(366): Show ATTGAGTGCGGGGGAAAGCGCCCAGCAGCGTTGAGTGCAGGGGAAAGCAC CTAGCAGTATGGAGTGGGAGGAAAGCACCCAGCAGTGTTGAGTAGGGGGG AAAGTACCCAGAAGTGTTGAGTAGGGGGGAAAGCACCCAGCAGTGTTGAG TGGGGGGAAAGCACCCAGCAGTGTTAAGTAGGAGGGAAAGTGCCCAGTGG TGTTGAGTAGGGGGGAAAGCGCCCAGCGGTGTTGAGTGGGGGGAAAGTGC CCAGCAGTGTTGAGTAGGTGGGAAAGCGCCCAGAAGTGTTGAGTATGGAG GAAAGTGCCCAGCGGTGTTGAGTGTGGGGAAAGCGCCCAGCAGTGTTGAG TAGGGGGGAAAGCGCCAAGAAGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03195.hp1 NA18906.hp2 HG02965.hp1 HG03195.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0009 a0004c0027 a0001c0009 a0004c0027	a0001c0009t0003 a0001c0009t0048 a0004c0027t0074 a0001c0009t0003 a0001c0009t0048 a0004c0027t0074	a0001c0009t0003g0218 a0001c0009t0048g0045 a0004c0027t0074g0155 a0001c0009t0003g0218 a0001c0009t0048g0045 a0004c0027t0074g0155	3	254	0.0118	373	c.122 others(392): Show c.1221+1326_1221+1327insCGTTGAGTGCAGGGGAAAGCACCTAG CAGTATGGAGTGGGAGGAAAGCACCCAGCAGTGTTGAGTAGGGGGGAAAG TACCCAGAAGTGTTGAGTAGGGGGGAAAGCACCCAGCAGTGTTGAGTGGG GGGAAAGCACCCAGCAGTGTTAAGTAGGAGGGAAAGTGCCCAGTGGTGTT GAGTAGGGGGGAAAGCGCCCAGCGGTGTTGAGTGGGGGGAAAGTGCCCAG CAGTGTTGAGTAGGTGGGAAAGCGCCCAGAAGTGTTGAGTATGGAGGAAA GTGCCCAGCGGTGTTGAGTGTGGGGAAAGCGCCCAGCAGTGTTGAGTAGG GGGGAAAGCGCCAAGAAGTGTTGAGTGCGGGGGAAAGCGCCCAGCAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AZU1_chr19_822837_837018	835508	G G	GTCCAGGC others(366): Show GTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGGTGCGGCCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC CAGCCCTGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCC GTCCGGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCATCCAGGCCC CGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCG TGCAGCCCCCACCCCGCAGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	391	0.0026	373	c.36 others(384): Show c.3631_*3632insTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCTCCTGGCAGAGCCAGCCCTGTCCAGGCCCCGACGCGTGCAGCCTCCT GGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCATCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGT CCGGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3491		chr19	TogoVar
BBS9_chr7_33124564_33611069	33155705	A A	AAGAAATA others(366): Show AAGAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0219 a0002c0002t0001g0219	1	268	0.0037	373	c.328 others(386): Show c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAGAAATATTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BDH1_chr3_197504783_197560968	197518786	T T	TCCTCAGG others(366): Show TCCTCAGGCCGACCCCCCCCATCAGTCACTTCCTGCTCTATCGTCTCCAT CCCCCCTCAGGCCGACCCCCCCCATCAGTCACTTCCTGCTCTATGGACTC CATCCCCCCTCAGGCCGACCCCCCCCCATCAGTCACTTCCTGCTCTATGG TCTCCATCCCCCCTCAGGCTGACCCCCCCAATCAGTCACTTCCTGCTCTA TGGACTCCATCCCCCCTCAGGCCGACCCCCCCCATCAGTCACTTCCTGCT CTATGGACTCCATCCCCCCTCAGGCCGACCCCCCCCCATCAGTCACTTCC TGCTCTATGGTCTCCATCCCCCCTCAGGCTGACCCCCCCAATCAGTCACT TCCTGCTCTATGGACTCCATCCCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0231 a0001c0001t0231	a0001c0001t0231g0310 a0001c0001t0231g0310	1	319	0.0031	373	c.409 others(390): Show c.409+3853_409+3854insGGGGATGGAGTCCATAGAGCAGGAAGTG ACTGATTGGGGGGGTCAGCCTGAGGGGGGATGGAGACCATAGAGCAGGAA GTGACTGATGGGGGGGGGTCGGCCTGAGGGGGGATGGAGTCCATAGAGCA GGAAGTGACTGATGGGGGGGGTCGGCCTGAGGGGGGATGGAGTCCATAGA GCAGGAAGTGACTGATTGGGGGGGTCAGCCTGAGGGGGGATGGAGACCAT AGAGCAGGAAGTGACTGATGGGGGGGGGTCGGCCTGAGGGGGGATGGAGT CCATAGAGCAGGAAGTGACTGATGGGGGGGGTCGGCCTGAGGGGGGATGG AGACGATAGAGCAGGAAGTGACTGATGGGGGGGGTCGGCCTGAGG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(366): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0035 a0002c0003t0001g0035	1	328	0.0031	373	c.100 others(392): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(366): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAG GGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG ACGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	386	0.0026	373	c.803 others(387): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGGGAGA AGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGA GACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(366): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0103 a0001c0001t0006g0103	1	386	0.0026	373	c.803 others(387): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGAGACGGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGG GAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC77_chr12_396644_447642	421827	C C	CACACATA others(366): Show CACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACACTCCATGTTC CATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATA CACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAAATACACACATAGCAGCACACTCCATGCTC CATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATAC ACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAAAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02257.hp1 HG00642.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0273 a0001c0001t0001g0258 a0001c0001t0001g0273	2	432	0.0046	373	c.413 others(390): Show c.413+3213_413+3214insCTCCATTACAGTGCTCTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACACTCCATGTTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATAC ACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAAATACACACATAGCAGCACACTCCATGCTCC ATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACA CACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATG	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCR9_chr3_45881543_45908174	45890256	G G	GAAATATA others(366): Show GAAATATATATATATATTTATATAAATATATATATAACATATATATATAT TTATATAAATATATATATAACATATATATATATTTATATAAATATATATA TAACATATATATATATTTATATAAATATATATATAACATATATATATATT TATATAAATATATATATAACATATATATATTTATATAAATATATATATAA CATATATATATTTATATAAATATATATATAACATATATATATATTTATAT AAATATATATATAACATATATATATTTATATAAATATATATATAACATAT ATATATTTATATAAATATATATATAACATATATATATTTATATAAATATA TATATAACATATATATATTTATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	424	0.0024	373	c.-29 others(390): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATATTTATATAAA TATATATATAACATATATATATATTTATATAAATATATATATAACATATA TATATATTTATATAAATATATATATAACATATATATATTTATATAAATAT ATATATAACATATATATATTTATATAAATATATATATAACATATATATAT ATTTATATAAATATATATATAACATATATATATTTATATAAATATATATA TAACATATATATATTTATATAAATATATATATAACATATATATATTTATA TAAATATATATATAACATATATATATTTATATAAATATATATATA	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CDH4_chr20_61247261_61945617	61565299	C C	CGGTGCTC others(366): Show CGGTGCTCTTGGTGGTAGGTGGTGGTGGTGGTGGTGGCGGTGCTCTTGGT GGTAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTCGCGGTGCTCTTGGTG GTGGTGGTAGTGGTCCTCTTGGTGATGGGGAGGTGGTGGTGGTGGTGCTC TTGGTGGTGGCGGTGCTCTTGGTGATGGTGGTGGTCCTCTTGGTGATGGG GAGGTGATGGTGGTGGTGCTCTTGGTGGTGGTGGCGGTGCTCTTGGTGGT AGGTGGTGGTGGTGGTGGTGGCGGTGCTCTTGGTGGTAGGTGGTGGTGGT GGTGGTGGTGGTGGTCGCGGTGCTCTTGGTGGTGGTGGTAGTGGTCCTCT TGGTGATGGGGAGGTGGTGGTGGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0001 a0006c0019t0001	a0006c0019t0001g0015 a0006c0019t0001g0015	1	106	0.0094	373	c.170 others(394): Show c.170-178249_170-178248insAGGTGGTGGTGGTGGTGGTGGCGG TGCTCTTGGTGGTAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTCGCGGT GCTCTTGGTGGTGGTGGTAGTGGTCCTCTTGGTGATGGGGAGGTGGTGGT GGTGGTGCTCTTGGTGGTGGCGGTGCTCTTGGTGATGGTGGTGGTCCTCT TGGTGATGGGGAGGTGATGGTGGTGGTGCTCTTGGTGGTGGTGGCGGTGC TCTTGGTGGTAGGTGGTGGTGGTGGTGGTGGCGGTGCTCTTGGTGGTAGG TGGTGGTGGTGGTGGTGGTGGTGGTCGCGGTGCTCTTGGTGGTGGTGGTA GTGGTCCTCTTGGTGATGGGGAGGTGGTGGTGGTGGTGCTCTTGGTGGT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDK19_chr6_110604978_110820469	110666104	C C	CAAAGAAT others(366): Show CAAAGAATCTTACAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGATTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0109 a0001c0001t0010g0109	1	300	0.0033	373	c.456 others(390): Show c.456+1329_456+1330insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAATCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAACTGTAAGATTCTTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	4/12			chr6	TogoVar
CENPJ_chr13_24877279_24927861	24881947	G G	GATATATA others(366): Show GATATATAATCTATATAGATATATAATCTATATAGATATATAGATACATC TATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA GATATATAGATACATCTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	440	0.0023	373	c.12 others(384): Show c.1229_*1230insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATATAGATGTATCTATATAGATGTATCTATATATCTATATAGATG TATCTATATATCTATATAGATGTATCTATATATCTATATAGATGTATCTA TATATCTATATAGATTATATATCTATATAGATTATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		331		chr13	TogoVar
CIP2A_chr3_108544864_108594438	108575721	T T	TGTATATA others(366): Show TGTATATATACTGAGTATATATACTCATATACATGTGTATATATACTGAG TATATATACGTGTATATATACTGAGTATATATACGTGTATATATACTGAG TATATATACGTGTATATATACTGAGTATATATACGTGTATATATACTGAG TATATATACGTGTATATATACTGAGTATATATACGTGTATATATACTGAG TATATATACGTGTATATATACTGAGTATATATACGTGTATATATACTGAG TATATATACGTGTATATATACTGAGTATATATACGTGTATATATACTGAG TATATATACGTGTATATATACTGAGTATATATACGTGTATATATACTGAG TATATATACGTGTATATATACTGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03453.hp1 HG00735.hp1 HG03453.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0156 a0003c0005t0002g0157 a0003c0005t0002g0156 a0003c0005t0002g0157	2	372	0.0054	373	c.894 others(388): Show c.894+549_894+550insTCAGTATATATACACGTATATATACTCAGT ATATATACACGTATATATACTCAGTATATATACACGTATATATACTCAGT ATATATACACGTATATATACTCAGTATATATACACGTATATATACTCAGT ATATATACACGTATATATACTCAGTATATATACACGTATATATACTCAGT ATATATACACGTATATATACTCAGTATATATACACGTATATATACTCAGT ATATATACACGTATATATACTCAGTATATATACACGTATATATACTCAGT ATATATACACGTATATATACTCAGTATATATACACGTATATATACTCAGT ATATATACACATGTATATGAGTATATATACTCAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CNBD1_chr8_86861415_87387859	87136898	A A	ATATATAA others(366): Show ATATATAAATTATATATTATATTTATATTATATATAAATTATATATTATA TTTATATTATATATAAATTATATATTATATTTATATTATATATAAATTAT ATATTTATATTATATATAAATTATATATTTATATTATATATAAATATATA TATTTATATAAAATATAAATATATATATTATATATAATATAAATATATAT ATTTATATATGTATATTTATATATAATATAAATTATATAATTTATATTAT ATATAAATTATATAATTTATATTCTATATAAATATATATATTTATATTCT ATATAAATTATATAATTTATATTCTATATAAATTATATAATTTATATTCT ATATAAATATATATATTTATATTC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	152	0.0066	373	c.432 others(392): Show c.432-69067_432-69066insATATATAAATTATATATTATATTTAT ATTATATATAAATTATATATTATATTTATATTATATATAAATTATATATT TATATTATATATAAATTATATATTTATATTATATATAAATATATATATTT ATATAAAATATAAATATATATATTATATATAATATAAATATATATATTTA TATATGTATATTTATATATAATATAAATTATATAATTTATATTATATATA AATTATATAATTTATATTCTATATAAATATATATATTTATATTCTATATA AATTATATAATTTATATTCTATATAAATTATATAATTTATATTCTATATA AATATATATATTTATATTCTATATAAATTATATATTATATTTATATT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
COG3_chr13_45459939_45541701	45485402	G G	GGAGGGCT others(366): Show GGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT GAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCG CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCAGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0222 a0002c0003t0002g0222	1	342	0.0029	373	c.844 others(390): Show c.844-1092_844-1091insAGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGTGGGGGGGGCTGACCCCCCCATCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGTGG CCGGGCAGAGGCGCCCCTCGCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCAGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGG GGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL6A2_chr21_46093112_46134801	46133639	G G	GGGATGAG others(366): Show GGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGG ATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATG AGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGC TCACCCGAGTCACACTGGGCCAGGGCTCAGCCTATTCTAGGATGAGCTCA CCCAAGTCACACTGGACCAAGGCTCAGCCTGCTCTAGAATACCTCACCTA AGTCACACTGGACCAGGGCTCAGCCTGCTCTAAGGTGAGCTCACCCGAGA CACTGGGCCAGAGATCAGCCTATTCTGGGATGAGCTCATCCGAGTCACAC TGGGCCAGGGCTCAGCCTATTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0169 a0001c0023t0001g0169	1	372	0.0027	373	c.41 others(384): Show c.4148_*4149insGGATGAGCTCACCCGAGTCACACTGGACCAGGGC TCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCA GCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCC TATTCCGGGATGAGCTCACCCGAGTCACACTGGGCCAGGGCTCAGCCTAT TCTAGGATGAGCTCACCCAAGTCACACTGGACCAAGGCTCAGCCTGCTCT AGAATACCTCACCTAAGTCACACTGGACCAGGGCTCAGCCTGCTCTAAGG TGAGCTCACCCGAGACACTGGGCCAGAGATCAGCCTATTCTGGGATGAGC TCATCCGAGTCACACTGGGCCAGGGCTCAGCCTATTCCA	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		3839		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46133639	G G	GGGATGAG others(366): Show GGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGG ATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATG AGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGC TCACCCGAGTCACACTGGGCCAGGGCTCAGCCTATTCTAGGATGAGCTCA CCCAAGTCACACTGGACCAAGGCTCAGCCTGCTCTAGAATACCTCACCTA AGTCACACTGGACCAGGGCTCAGCCTGCTCTAAGGTGAGCTCACCCGAGA CACTGGGCCAGAGATCAGCCTATTCTGGGATGAGCTCATCCGAGTCACAC TGGGCCAGGGCTCAGCCTATTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0166 a0001c0036t0001g0166	1	364	0.0028	373	c.10 others(384): Show c.1087_*1088insGGATGAGCTCACCCGAGTCACACTGGACCAGGGC TCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCA GCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCC TATTCCGGGATGAGCTCACCCGAGTCACACTGGGCCAGGGCTCAGCCTAT TCTAGGATGAGCTCACCCAAGTCACACTGGACCAAGGCTCAGCCTGCTCT AGAATACCTCACCTAAGTCACACTGGACCAGGGCTCAGCCTGCTCTAAGG TGAGCTCACCCGAGACACTGGGCCAGAGATCAGCCTATTCTGGGATGAGC TCATCCGAGTCACACTGGGCCAGGGCTCAGCCTATTCCA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		792		chr21	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(366): Show CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCT CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCCTCTCTCCCTC TCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18966.hp1 NA19068.hp2 HG02132.hp1 NA18966.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0267 a0001c0001t0001g0282 a0001c0001t0001g0283	3	350	0.0086	373	c.510 others(392): Show c.510+24113_510+24114insTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCC CTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(366): Show CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCT CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCT CTCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	350	0.0029	373	c.510 others(392): Show c.510+24113_510+24114insTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCCTCTCTCCCTCTCCCCTCTCTCC CTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
CPNE4_chr3_131528569_132040014	131978464	A A	ATTTATAT others(366): Show ATTTATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATTTATATATATTTATATATATATTT ATATATATATTTATATATATTTATATATATTTATATATATTTATATATAT ATTTATATATATATTTATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0073	1	94	0.0106	373	c.-2+ others(390): Show c.-2+56102_-2+56103insATATATATAAATATATATATAAATATAT ATATAAATATATATAAATATATATAAATATATATAAATATATATATAAAT ATATATATAAATATATATAAATATATATAAATATATATAAATATATATAT AAATATATATAAATATATAAATATATATATAAATATATATAAATATATAT AAATATATATATAAATATATATAAATATATATAAATATATATATAAATAT ATATAAATATATATAAATATATATATAAATATATATAAATATATATAAAT ATATATATAAATATATATAAATATATATAAATATATATATAAATATATAT AAATATATATAAATATATATATAAATATATATAAATATATATAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CUL4A_chr13_113204613_113272108	113232186	G G	GTCACCAC others(366): Show GTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCA CCACTATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACC GCTATTACTACTGCCACCACCACCTGTCCACCACCATTACTGTCACCACT ACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG TCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCAC CATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTC ACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	396	0.0025	373	c.513 others(388): Show c.513-991_513-990insTCACCACTACCTGCCCACCACCATTACTGC TGCCACCACTACCCGCCCACCACTATTACTGCTGCTGCCACCACCAGTAT TACTGTCACCGCCACCACCGCTATTACTACTGCCACCACCACCTGTCCAC CACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCA TTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DENND1A_chr9_123374658_123935126	123405649	G G	GAAGCAGG others(366): Show GAAGCAGGCACACACTCCACTTCCTGCCCACCCTTTGAGTTTCCAGGACA AGACAGGGAAGGGAAGCAGGCACACACTCCACCTCCTGCCCACCCTTTGA GTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACTCCACCTCCTG CCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACA CTCCACTTCCTGCCCACCCTTTGAGTTTACAGGACAAGACAGGGAAGGGA AGCAGGCACACACTCCACTTCCTGCCCACCCTTTGAGTTTCCAGGACAAG ACAGGGAAGGGAAGCAGGCACACACTCCACTTCCTGCCCACCCTTTGAGT TTCCAGGACAAGACAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0001 a0005c0021t0001	a0005c0021t0001g0065 a0005c0021t0001g0065	1	162	0.0062	373	c.154 others(392): Show c.1543-2160_1543-2159insTCCCTTCCCTGTCTTGTCCTGGAAAC TCAAAGGGTGGGCAGGAAGTGGAGTGTGTGCCTGCTTCCCTTCCCTGTCT TGTCCTGGAAACTCAAAGGGTGGGCAGGAAGTGGAGTGTGTGCCTGCTTC CCTTCCCTGTCTTGTCCTGTAAACTCAAAGGGTGGGCAGGAAGTGGAGTG TGTGCCTGCTTCCCTTCCCTGTCTTGTCCTGGAAACTCAAAGGGTGGGCA GGAGGTGGAGTGTGTGCCTGCTTCCCTTCCCTGTCTTGTCCTGGAAACTC AAAGGGTGGGCAGGAGGTGGAGTGTGTGCCTGCTTCCCTTCCCTGTCTTG TCCTGGAAACTCAAAGGGTGGGCAGGAAGTGGAGTGTGTGCCTGCTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	20/23			chr9	TogoVar
DGKD_chr2_233349494_233477098	233397028	C C	CAGAGTGA others(366): Show CAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAG TGAGAGGACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGA GGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACA CCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCA GAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGTCAGAGTGAGAGGACACC AGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTGAGAGGACTCCAGA GGGGACCAGGGTGGCTGGGGGGGGGGGGTGCCAGAGTGAGAGGACTCCAG AGGGGACCAGGGTGGCTGGTAGAG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18964.hp2 NA18940.hp1 NA18964.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0019 a0001c0001 a0007c0019	a0001c0001t0001 a0007c0019t0009 a0001c0001t0001 a0007c0019t0009	a0001c0001t0001g0289 a0007c0019t0009g0330 a0001c0001t0001g0289 a0007c0019t0009g0330	2	336	0.0060	373	c.348 others(390): Show c.348+6545_348+6546insAGAGTGAGAGGACTCCAGAGGGGACCAG GGTGGCTGGTAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGG CTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGC AGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGG GGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGG GTGTCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGG CCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGT GCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29			chr2	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(366): Show ATATATACTATATATATATAGTATATATATACTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATAT ATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTATAT ATATATAGTGTATATATATAGTATATATATAGTATATATATAGTATATAT AGTATATATGTATATATATATAGT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	316	0.0032	373	c.355 others(392): Show c.355-25704_355-25703insTATATACTATATATATATAGTATATA TATACTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTATATA TATAGTATATATATAGTATATATAGTATATATGTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(366): Show ATATATACTATATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATACTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATAT ATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTATAT ATATATAGTGTATATATATAGTATATATATAGTATATATATAGTATATAT AGTATATATGTATATATATATAGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02293.hp2 HG02129.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0132 a0001c0002t0001g0093 a0001c0001t0002g0132 a0001c0002t0001g0093	2	316	0.0063	373	c.355 others(392): Show c.355-25704_355-25703insTATATACTATATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATACTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTATATA TATAGTATATATATAGTATATATAGTATATATGTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DYNC2I1_chr7_158851558_158951189	158915890	G G	GATTAAGG others(366): Show GATTAAGGATGATTGTGAAATGTCAACACGCTGGTTGACAGGATGATTGT GAAACCTCGACACGCTGGTTGACATTAAGGATGACTGTGAAACGTTTACA CGCTGGTTGACATTAAGGATGATTGTGAAACGTCGACATGCTGGTTGACA TTAAGAATGATTGTGAAACCTCGACACGGTGGTTGACATTAAGGATGATT GTGAAACCTCAACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGA CACGCTGGTTGAGATTAAGGATGATTGTGAAACGACACGCTGGTTGACAT TAAGGATGATTGTGAAACCTCGACACGGTGGTTGAGATTAAGGATGATTG TGAAACATCAACACGCTGGTTGGC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	274	0.0037	373	c.179 others(392): Show c.1791+1588_1791+1589insTGTCAACACGCTGGTTGACAGGATGA TTGTGAAACCTCGACACGCTGGTTGACATTAAGGATGACTGTGAAACGTT TACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCGACATGCTGGTT GACATTAAGAATGATTGTGAAACCTCGACACGGTGGTTGACATTAAGGAT GATTGTGAAACCTCAACACGCTGGTTGAGATTAAGGATGATTGTGAAACG TCGACACGCTGGTTGAGATTAAGGATGATTGTGAAACGACACGCTGGTTG ACATTAAGGATGATTGTGAAACCTCGACACGGTGGTTGAGATTAAGGATG ATTGTGAAACATCAACACGCTGGTTGGCATTAAGGATGATTGTGAAA	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGFR_chr7_55014017_55216628	55167317	T T	TGGTGGTG others(366): Show TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGA GGGTGGTGATGGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGA TGGTGTTACTGGTGGTGACGAGGTGGGAGTCACAATGGTGGTGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGA GGAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTGGTGATGGTGGTGA GGAGGTGGGAGTCACAATGGTGTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03453.hp2 HG02895.hp1 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0023 a0001c0012t0028 a0001c0004t0023 a0001c0012t0028	a0001c0004t0023g0245 a0001c0012t0028g0161 a0001c0004t0023g0245 a0001c0012t0028g0161	2	250	0.0080	373	c.188 others(392): Show c.1880+1913_1880+1914insGTGGTGGTGGTGATGAGGGTGGTGAT GGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTACT GGTGGTGACGAGGTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGA GTCACAGTGGTGGCGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGA GTCACAATGGTGTCGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACA	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EHMT1_chr9_137614005_137841127	137716360	T T	TGTGGTGT others(366): Show TGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAA GTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGAGGAAGTTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0052 a0001c0007t0001g0052	1	170	0.0059	373	c.86- others(386): Show c.86-179_86-178insGTGTCATGGTGGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCA TGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIPR1_chr2_3183970_3382818	3315770	T T	TACCACCA others(366): Show TACCACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATC ACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCA TCCACACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCTA CCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCAC CACCATCCCTATCCACACCCCCTACCACCACCATCACCACCATCCCCATC CACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACC ACCACCATCACCACCATCCCCACACACACCCCCTACCACCATCCTCACCA CCATCCCCATCCACACCCCCTACC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03195.hp1 HG03490.hp1 others(3): Show HG02109.hp2 HG03195.hp1 HG03490.hp1 HG03492.hp2 NA18979.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0167 a0001c0001t0002g0045 a0001c0001t0002g0166 others(3): Show a0001c0001t0001g0167 a0001c0001t0002g0045 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0004g0137	6	250	0.0240	373	c.259 others(392): Show c.259+22246_259+22247insGGTAGGGGGTGTGGATGGGGATGGTG GTGAGGATGGTGGTAGGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATAGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ENPP3_chr6_131632302_131752410	131692861	A A	ATATATAT others(366): Show ATATATATGATATATAGTTATATATTATACACTATATATGATATATAGTT ATATATTATACACTATATATGATATATAGTTATATATTATACAACTATAT ATGATATATAGTTATATATTATACACTATATATGATATATAGTTATATAT TATACACTATATATGATATATAGTTATATATTATACACTATATATGATAT ATAGTTATATATTATACACTATATATGATATATAGTTATATATTATACAC TATATATGATATATAGTTATATATTATACACTATATATGATATATAGTTA TATATTATACACTATATATGATATATAGTTATATATTATACACTATATAT GATATATAGTTATATATTATACAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18985.hp2 NA18987.hp1 others(3): Show HG01975.hp2 NA18985.hp2 NA18987.hp1 NA19003.hp1 NA19066.hp1 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0134 a0001c0002t0001g0137 others(3): Show a0001c0002t0001g0088 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141	6	278	0.0216	373	c.128 others(390): Show c.1285-544_1285-543insACTATATATGATATATAGTTATATATTA TACACTATATATGATATATAGTTATATATTATACACTATATATGATATAT AGTTATATATTATACACTATATATGATATATAGTTATATATTATACACTA TATATGATATATAGTTATATATTATACACTATATATGATATATAGTTATA TATTATACACTATATATGATATATAGTTATATATTATACACTATATATGA TATATAGTTATATATTATACACTATATATGATATATAGTTATATATTATA CACTATATATGATATATAGTTATATATTATACACTATATATGATATATAG TTATATATTATACACTATATATGATATATAGTTATATATTATACA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131692861	A A	ATATATAT others(366): Show ATATATATGATATATAGTTATATATTATACACTATATATGATATATAGTT ATATATTATACACTATATATGATATATAGTTATATATTATACACTATATA TGATATATAGTTATATATTATACAACTATATATGATATATAGTTATATAT TATACACTATATATGATATATAGTTATATATTATACACTATATATGATAT ATAGTTATATATTATACACTATATATGATATATAGTTATATATTATACAC TATATATGATATATAGTTATATATTATACACTATATATGATATATAGTTA TATATTATACACTATATATGATATATAGTTATATATTATACACTATATAT GATATATAGTTATATATTATACAC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	278	0.0036	373	c.128 others(390): Show c.1285-500_1285-499insTATAGTTATATATTATACACTATATATG ATATATAGTTATATATTATACACTATATATGATATATAGTTATATATTAT ACACTATATATGATATATAGTTATATATTATACACTATATATGATATATA GTTATATATTATACACTATATATGATATATAGTTATATATTATACACTAT ATATGATATATAGTTATATATTATACACTATATATGATATATAGTTATAT ATTATACACTATATATGATATATAGTTATATATTATACACTATATATGAT ATATAGTTATATATTATACACTATATATGATATATAGTTATATATTATAC ACTATATATGATATATAGTTATATATTATACAACTATATATGATA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
EPYC_chr12_90958682_91009972	90987354	T T	TCACAAGC others(366): Show TCACAAGCCTGCTCCATTTTCTGTCCTCTGAACCACCAAGGTTTGTTTGT CTGAGAGCCATGACTAAGGCTGTGGCTTTTCTCTGATATCGCTTTTCCTT TTCAGCCTGTTCCTCTTGGTCCCTATTATAGAACACCAAGGTTGCCAGGT TTAATAATGCCTCCAGATTTTGTTCTGGGCCCAGGGCTCGCTTTTGGAGC TTTCTCCTCATATCTGTGGCTGATTGGGTAATAAACTTATCTTTCAGGAT CAGTTGACTTTTGAGGGAGTTGGATGACAGGGGAGTATATTTTCTTAAGG CCTCCCATAGTCACTTGAGGAAGGCAGAAGGATTTTCTTCCTTTCCCTGA GTTATGGTGGACATCATTGATTTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03834.hp2 HG00642.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0107 a0001c0001t0001g0108	2	346	0.0058	373	c.166 others(390): Show c.166-9093_166-9092insTAAATCAATGATGTCCACCATAACTCAG GGAAAGGAAGAAAATCCTTCTGCCTTCCTCAAGTGACTATGGGAGGCCTT AAGAAAATATACTCCCCTGTCATCCAACTCCCTCAAAAGTCAACTGATCC TGAAAGATAAGTTTATTACCCAATCAGCCACAGATATGAGGAGAAAGCTC CAAAAGCGAGCCCTGGGCCCAGAACAAAATCTGGAGGCATTATTAAACCT GGCAACCTTGGTGTTCTATAATAGGGACCAAGAGGAACAGGCTGAAAAGG AAAAGCGATATCAGAGAAAAGCCACAGCCTTAGTCATGGCTCTCAGACAA ACAAACCTTGGTGGTTCAGAGGACAGAAAATGGAGCAGGCTTGTG	EPYC	ENSG00000083782.8	transcript	ENST00000261172.8	protein_coding	2/6			chr12	TogoVar
EXOC2_chr6_480154_698139	675519	A A	AGAAAGGA others(366): Show AGAAAGGACAGGTTCCTCTGGAGACTGCGGTTTCCCATACTCTTCAACAT TACGGAAAGGACAGTTTCCTCTGGAGACTGCGGTTTCCCATACTCTTCAA CATTACAGAAAGGACAGGTTCCTCTGGAGACTGCGGTTTCCCATACTCTT CAACATTACGGAAAGGACAGGTTCCTCTGGAGACTGCGGTTTCCCATACT CTTCAACATTACGGAAAGGACAGTTTCCTCTGGAGACTGCGGTTTCCCAT ACTCTTCAACATTACGGAAAGGACAGGTTCCTCTGGAGACTCTGAGGTTC CCCATACTCTTCAACATTACGGAAAGGACAGTTTCCTCTGGAGACTGCGG TTTCCCATACTCTTCAACATTACG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02886.hp2 HG01884.hp1 HG02109.hp2 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0011 a0002c0005t0011 a0001c0001t0011 a0002c0005t0011	a0001c0001t0011g0267 a0001c0001t0011g0268 a0002c0005t0011g0266 a0001c0001t0011g0267 a0001c0001t0011g0268 a0002c0005t0011g0266	3	272	0.0110	373	c.-44 others(392): Show c.-44+17499_-44+17500insCGTAATGTTGAAGAGTATGGGAAACC GCAGTCTCCAGAGGAAACTGTCCTTTCCGTAATGTTGAAGAGTATGGGGA ACCTCAGAGTCTCCAGAGGAACCTGTCCTTTCCGTAATGTTGAAGAGTAT GGGAAACCGCAGTCTCCAGAGGAAACTGTCCTTTCCGTAATGTTGAAGAG TATGGGAAACCGCAGTCTCCAGAGGAACCTGTCCTTTCCGTAATGTTGAA GAGTATGGGAAACCGCAGTCTCCAGAGGAACCTGTCCTTTCTGTAATGTT GAAGAGTATGGGAAACCGCAGTCTCCAGAGGAAACTGTCCTTTCCGTAAT GTTGAAGAGTATGGGAAACCGCAGTCTCCAGAGGAACCTGTCCTTTC	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
FAM234A_chr16_229821_271096	267540	C C	CATGCATG others(366): Show CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC GTGCTATGCATACACACCACACGTGTGCCTCACAGTGCTACACATGCCTC ATACACATGACACGTGCACACACCACATATGCATGCCTCAGTACACCTGC ACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACGTG TGCCTCACAGTGCTACACATGCATCCTACACGACACGTGCACACACACCA CACATGCATGCCTCACAGTACACCTGCACACGTGCACTACAATCACACAT GCTATGTGTACACACCACACGTGTGCCTCAGTGCTACACATGCCTCATAC ACACGACACGTGCACACACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03453.hp2 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0026 a0001c0001t0005g0027	2	408	0.0049	373	c.25 others(384): Show c.2518_*2519insATGCATGCCTCACAGTACACCTGCACACGTGCAC TACACACAATCACACGTGCTATGCATACACACCACACGTGTGCCTCACAG TGCTACACATGCCTCATACACATGACACGTGCACACACCACATATGCATG CCTCAGTACACCTGCACACGTGCACTAAACACAATCACACATGCTATGCG TACACACCACACGTGTGCCTCACAGTGCTACACATGCATCCTACACGACA CGTGCACACACACCACACATGCATGCCTCACAGTACACCTGCACACGTGC ACTACAATCACACATGCTATGTGTACACACCACACGTGTGCCTCAGTGCT ACACATGCCTCATACACACGACACGTGCACACACCACAT	FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding		1445		chr16	TogoVar
FHOD3_chr18_36292713_36785220	36721150	T T	TGTTTGCA others(366): Show TGTTTGCATAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0013 a0013	a0013c0047 a0013c0047	a0013c0047t0002 a0013c0047t0002	a0013c0047t0002g0105 a0013c0047t0002g0105	1	168	0.0060	373	c.341 others(392): Show c.3417+2450_3417+2451insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCCGTTTGCATAGTTTTT	FHOD3	ENSG00000134775.16	transcript	ENST00000590592.6	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(366): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAG GGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG ACGAGAGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0139 a0001c0001t0008g0139	1	370	0.0027	373	c.39 others(384): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCGTCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGC CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCC GTCTCCCTCTCCCTCTCCCCGTCTCCCGTCTCCCTCTCCCTCTCCCCGTC TCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTTCTCCCCGTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar

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