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
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(471): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCC TTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCT CTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCCTCCCC CTCTCTCCCCCTCCCCCTCCCCTCCCCTCCCCCATCCCCTCCCCCCTCTC TCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCC CCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCC CTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTC CTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTT CCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCCC CTCTCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0001 a0002c0037t0001	a0002c0037t0001g0140 a0002c0037t0001g0140	1	56	0.0179	478	c.11 others(499): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCCCCCT CCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCC CCCTCCCCCTCTCTCCCCCTCCCCCTCCCCTCCCCTCCCCCATCCCCTCC CCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCC CCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCC TCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCT CCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCC CCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCC CCCCCCCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCC CTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(471): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCC TTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCT CTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCC TCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCCCTCTC TCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCC CCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCC CTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTC CTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTT CCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCCC CTCTCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0094 a0001c0013t0001g0094	1	56	0.0179	478	c.11 others(499): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCCCCCT CCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCC CCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCC CCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCC CCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCC TCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCT CCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCC CCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCC CCCCCCCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCC CTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(471): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCC TTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCT CTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCC TCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCCCTCTC TCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCC CCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCC CTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTC CTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTT CCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTCC CTCTCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0137 a0004c0011t0001g0137	1	56	0.0179	478	c.11 others(499): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCCCCCT CCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCC CCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCC CCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCC CCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCC TCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCT CCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCC CCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCC CCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCC CTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(471): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCTCCCCCTCCT TCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTC TCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCT CTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCCCTCTCT CTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCC CTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCC TCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCC TTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTC CCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCC CTCTCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	56	0.0179	478	c.11 others(499): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCCCCTC CCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCT CCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCC CTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCC CCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCC CCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCT CATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTC CCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCC CCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCC CCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCC CTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KANK1_chr9_499695_751103	514241	T T	TCCCTCCC others(471): Show TCCCTCCCTCCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCTCCCTCC CTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCC CTCTCTTCCTCCCTCTCTCCCTCCTTCTCTCCCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCTTCT CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTCTCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCT CTTCCTCCCTCTCTCCCTCCTTCTCTCCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTC CTCTCTCCCTCCCTTCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0146 a0002c0002t0002g0146	1	251	0.0040	478	c.-84 others(495): Show c.-84+9487_-84+9488insCCCTCCCTCCCTCCCTCCCTCTCTCCCT TCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTC CCTCCCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCTCTCCCTCCTTCTC TCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTC CCTCCCTCTCTCCCTCCTTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTC TCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCTCTCCCTCCTTCTCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTCTCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTTCCTCCCTCCCTCCC	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11			chr9	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(471): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTGTGCATGTGTATCC ATGTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTGT GTGTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGT GTGCATGTATGGGCATGTGTGTATACCTGTGTGTATTTGTGTTGCACGTG TGTATATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTACGTG TATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTATGTG TATGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATGTGTG CATGTGTATATATGTCTATGTACTTGTGTGTATGTGTATGCATGTGTGTA CATGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCACGTGTGTG TATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp2 others(37): Show HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00609.hp1 HG00735.hp1 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG01978.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG02300.hp1 HG02738.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp1 NA18944.hp1 NA18950.hp1 NA18955.hp2 NA18961.hp1 NA18971.hp1 NA18983.hp1 NA18983.hp2 NA19000.hp2 NA19011.hp1 NA19055.hp2 NA19057.hp2 NA19064.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0026 others(36): Show a0001c0001t0002 a0001c0001t0020 a0001c0001t0026 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0069 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0082 a0001c0001t0085 a0001c0001t0089 a0001c0001t0091 a0001c0001t0094 a0001c0001t0096 a0001c0001t0100 a0001c0001t0101 a0001c0001t0107 a0001c0001t0111 a0001c0001t0121 a0001c0001t0138	a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0020g0104 others(37): Show a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0020g0104 a0001c0001t0026g0083 a0001c0001t0033g0085 a0001c0001t0034g0160 a0001c0001t0039g0041 a0001c0001t0041g0179 a0001c0001t0042g0108 a0001c0001t0043g0178 a0001c0001t0044g0170 a0001c0001t0046g0156 a0001c0001t0049g0103 a0001c0001t0051g0018 a0001c0001t0052g0021 a0001c0001t0053g0086 a0001c0001t0056g0133 a0001c0001t0057g0072 a0001c0001t0058g0060 a0001c0001t0059g0123 a0001c0001t0060g0117 a0001c0001t0061g0047 a0001c0001t0069g0090 a0001c0001t0075g0106 a0001c0001t0076g0067 a0001c0001t0077g0025 a0001c0001t0078g0076 a0001c0001t0079g0024 a0001c0001t0082g0042 a0001c0001t0085g0068 a0001c0001t0089g0168 a0001c0001t0091g0055 a0001c0001t0094g0050 a0001c0001t0096g0174 a0001c0001t0100g0105 a0001c0001t0101g0051 a0001c0001t0107g0084 a0001c0001t0111g0109 a0001c0001t0121g0191 a0001c0001t0138g0046	40	65	0.6154	478	c.946 others(495): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACATGCATACACATACACACAAGTACATAGACATATATACACAT GCACACATACACACATGCATACACATATGCACACACATACACACATGCAT ACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAAAT ACACGTACACACAGGTATACACATGCACATGTAAATACACACACATATAC ACACGTGCAACACAAATACACACAGGTATACACACATGCCCATACATGCA CACACATGCATACACATGCACACACAAATACATATACGTGTATACACACA CACACATGCACGCACGTGCATACACATGCACACACAAATATACACACACA TGGATACACATGCACACATATACACACACACACACACACACACACACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(471): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGCATGTGTATCCAT GTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTATGT GTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGTGT GCATGTATGGGCATGTGTGTATACCTGTGTGTATTTGTGTTGCATGTGTG TATATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTACGTGTA TTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTATGTGTA TGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATGTGTGCA TGTGTATATATGTGTCTATGTACTTGTGTGTATGTGTATGCATGTGTGTA CATGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCACGTGTGTG TATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0162 a0001c0002t0162	a0001c0002t0162g0162 a0001c0002t0162g0162	1	26	0.0385	478	c.946 others(495): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACATGCATACACATACACACAAGTACATAGACACATATATACAC ATGCACACATACACACATGCATACACATATGCACACACATACACACATGC ATACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAA ATACACGTACACACAGGTATACACATGCACATGTAAATACACACACATAT ACACACATGCAACACAAATACACACAGGTATACACACATGCCCATACATG CACACACATGCATACACATGCACACACAAATACATATACGTGTATACACA CACATACATGCACGCACGTGCATACACATGCACACACAAATATACACACA CATGGATACACATGCACACATACACACACACACACACACACACACACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(471): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTGTGCATGTGTAT CCATGTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGT ATGTGTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGT GTGTGCATGTATGGGCATGTGTGTATACCTGTGTGTATTTGTGTTGCATG TGTGTATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTACGTG TATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTATGTG TATGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTATGTGTGCA TGTGTATATATGTGTCTATGTACTTGTGTGTATGTGTATGCATGTGTGTA CATGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCACGTGTGTG TATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19057.hp1 NA19055.hp1 NA19057.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0070 a0001c0003t0017 a0001c0003t0070	a0001c0003t0017g0182 a0001c0003t0070g0038 a0001c0003t0017g0182 a0001c0003t0070g0038	2	27	0.0741	478	c.946 others(495): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACATGCATACACATACACACAAGTACATAGACACATATATACAC ATGCACACATACACATGCATACACATATGCACACACATACACACATGCAT ACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAAAT ACACGTACACACAGGTATACACATGCACATGTAAATACACACACATACAC ACATGCAACACAAATACACACAGGTATACACACATGCCCATACATGCACA CACATGCATACACATGCACACACAAATACATATACGTGTATACACACACA TACATGCACGCACGTGCATACACATGCACACACAAATATACACACACATG GATACACATGCACACATATACACACACACACACACACACACACACACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(471): Show GATATATATATATCCAAGAGGATATATATATATATCTCCAAGAGGATATA TATATATACACAAGAGGATATATATATATACACACAAGAGGATATATATA TGTACACACAAGAGGATATATATATGTACACACAAGAGGATATATATATA TATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATA TATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATA TATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATA TATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATA TATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGA TATATATATATATATATCCAAGAGGATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	189	0.0053	478	c.-67 others(497): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATATACACACAAGA GGATATATATATGTACACACAAGAGGATATATATATGTACACACAAGAGG ATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGG ATATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATATATCC AAGAGGATATATATATATATATATCCAAGAGGATATATATATATATATAT CCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATAT ATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATAT AT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
LARS1_chr5_146108034_146187650	146174505	T T	TATATATA others(471): Show TATATATATCCATATATATATATCCATATATATATCCATATATATATATC CATATATATATCCATATATATATCCATATATATATATCCATATATATATC CATATATATATATCCATATATATATCCATATATATATATCCATATATATA TCCATATATATATATCCATATATATGGATATATATATATCCATATATATC TATCCATATATATATCCATATATATCTATCCATATATATATCCATATATC TATCCATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATCCATATATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATATCCATATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18978.hp2 NA18989.hp1 others(1): Show NA18948.hp2 NA18978.hp2 NA18989.hp1 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0211 a0002c0002t0002g0215 a0002c0002t0002g0237 others(1): Show a0002c0002t0002g0211 a0002c0002t0002g0215 a0002c0002t0002g0237 a0002c0002t0002g0239	4	160	0.0250	478	c.126 others(495): Show c.126-1732_126-1731insGGATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATATATGGATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATGGAT AGATATATGGATATATATATGGATAGATATATATGGATATATATATGGAT AGATATATATGGATATATATATATCCATATATATGGATATATATATATGG ATATATATATGGATATATATATATGGATATATATATGGATATATATATAT GGATATATATATGGATATATATATATGGATATATATATGGATATATATAT GGATATATATATATGGATATATATATGGATATATATATATGGATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LRP1B_chr2_140226423_142136016	141095338	T T	TGATAGGT others(471): Show TGATAGGTTCTCTTTATTTTTTTTTTTTTTATTTTTTTTTTTTTTTGATC TTAAATATTTTAATAGCTGCATTAAAAAAGTAAAAAAAGAATAAGTCAAT TTAGTAATACATTTAATTTTACCCAATATGAAAATATATTACAACGTAAT GATAAGTATGTGAGGCGAAGGATATGTTAATTAGCCTAATTTAATCATAC CACATTGTATACATGTATCATTTTTTTTTTTTTTTAATTTTTTTTTTTTA TTATACTCTAAGCTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACA TATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCT AGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCA CCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCA TTGTTCAATTCCCACCTAAACTATCGCAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp2 HG03225.hp2 HG02145.hp2 HG02922.hp2 HG03225.hp2	a0001 a0001	a0001c0008 a0001c0018 a0001c0019 a0001c0008 a0001c0018 a0001c0019	a0001c0008t0001 a0001c0018t0002 a0001c0019t0001 a0001c0008t0001 a0001c0018t0002 a0001c0019t0001	a0001c0008t0001g0008 a0001c0018t0002g0013 a0001c0019t0001g0016 a0001c0008t0001g0008 a0001c0018t0002g0013 a0001c0019t0001g0016	3	21	0.1429	478	c.101 others(499): Show c.1014-33066_1014-33065insTTGCGATAGTTTAGGTGGGAATTG AACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGAC TGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTA ATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTAT ACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAGCTTAGAG TATAATAAAAAAAAAAAATTAAAAAAAAAAAAAAATGATACATGTATACA ATGTGGTATGATTAAATTAGGCTAATTAACATATCCTTCGCCTCACATAC TTATCATTACGTTGTAATATATTTTCATATTGGGTAAAATTAAATGTATT ACTAAATTGACTTATTCTTTTTTTACTTTTTTAATGCAGCTATTAAAATA TTTAAGATCAAAAAAAAAAAAAAATAAAAAAAAAAAAAATAAAGAGAACC TATC	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	7/90			chr2	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(471): Show CCACTTACTTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0066 a0001c0004t0066	a0001c0004t0066g0273 a0001c0004t0066g0273	1	6	0.1667	478	c.368 others(495): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LTBP2_chr14_74493183_74617237	74564165	A A	ATATATAT others(471): Show ATATATATATATTTATATATATATTTATATATATATTTATATATATATAT TTATATATATATATTTATATATATATTTATATATATTTTTATATATATAT TTATATATATATATTTATATATATATTTATATATATTTTTATATATATAT TTATATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATTTATATATATTTATATATATATTTATATATATATTTATATATAT TTATATATATTTATATATATATTTATATATATATTTATATATATTTATAT ATATTTATATATATTTTTATATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATTTATATATATTTATATATATTTATAT ATATTTATATATATATTTATATATATATT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0010 a0001c0029t0010	a0001c0029t0010g0125 a0001c0029t0010g0125	1	251	0.0040	478	c.831 others(495): Show c.831-8473_831-8472insAATATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATATAAATATATATATAAAAATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATATAAATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATATATA AATATATATATAAAAATATATATAAATATATATATAAATATATATATATA AATATATATATAAAAATATATATAAATATATATATAAATATATATATATA AATATATATATATAAATATATATATAAATATATATATAAATATATATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
MPPED1_chr22_43407014_43512848	43432644	G G	GGAGGAGA others(471): Show GGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGG AGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGG GAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAG AGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGCAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAG ATAAAGGGAGGAGAGAGAGAAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0213 a0001c0003t0027g0213	1	62	0.0161	478	c.225 others(495): Show c.225-2388_225-2387insGGAGAGAGAGGGAAAGAGAGAGAGAAGG GGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGG AGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGCAGGAGAGAGATAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGG AGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAG ATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432661	A A	AGAGAGAG others(471): Show AGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGA GAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGA GAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGG AGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAG ATAAAGGGAGGAGAGAGAGATAAAGGGAG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0069 a0001c0001t0004g0069	1	243	0.0041	478	c.225 others(495): Show c.225-2348_225-2347insTAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGA GAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGA GAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAA AGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MTTP_chr4_99569824_99628997	99588815	A A	ACATATAT others(471): Show ACATATATATGTTCATATATATACACACATATATATGTTCATATATATAC ACACATATATATGTTCATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0169 a0003c0003t0001g0169	1	316	0.0032	478	c.394 others(493): Show c.394-819_394-818insGTTCATATATATACACACATATATATGTTC ATATATATACACACATATATATGTTCATATATATTCATATATATATGTTC ATATATATTCATATATATGTTCATATATATATTCATATATATGTTCATAT ATATTCATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588899	A A	ACATATAT others(471): Show ACATATATATGTTCATATATATTCATATATATATGTTCATATATATTCAT ATATATGTTCATATATATATTCATATATATGTTCATATATATTCATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0157 a0003c0003t0001g0157	1	261	0.0038	478	c.394 others(493): Show c.394-735_394-734insGTTCATATATATTCATATATATATGTTCAT ATATATTCATATATATGTTCATATATATATTCATATATATGTTCATATAT ATTCATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MUSK_chr9_110663791_110811558	110690669	T T	TATATATA others(471): Show TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TAATTATATATATTTATATATAAGTATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATATTTATA TATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATAAA TATATATATTTATATAGAAGTATATATAAATATATATATTTATATATAAG TATATATAAATATATATATTTAAATATAAGTATATATAAATATATATATT TAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATATA AATATATATTTAAATATAAGTATATATATAAATATAAGTATATATATAAA TATATATTTAAATATAAGTATATATATAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18965.hp2 NA19088.hp2 HG00609.hp2 NA18965.hp2 NA19088.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0071 a0005c0005t0002g0072 a0005c0005t0002g0073 a0005c0005t0002g0071 a0005c0005t0002g0072 a0005c0005t0002g0073	3	238	0.0126	478	c.358 others(495): Show c.358+3412_358+3413insTATATAAGTATATATATATATTTATATA TAAGTATATATAATTATATATATTTATATATAAGTATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATAAATATATATATTTATATATAAGTATATA TATATTTATATATAAGTATATATAAATATATATATTTATATATAAGTGTA TATATATAAATATATATATTTATATAGAAGTATATATAAATATATATATT TATATATAAGTATATATAAATATATATATTTAAATATAAGTATATATAAA TATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAAATATATATTTAAATATAAGTATATATATAAATATAAGTA TATATATAAATATATATTTAAATATAAGTATATATATAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MVP_chr16_29815462_29853021	29843550	G G	GAGGAAGG others(471): Show GAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGG AGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGA GTGAAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGA GGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAG GGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGT GAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGG GAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGG AGGAAGGGAGGGAGGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0025 a0005c0005t0002g0025	1	204	0.0049	478	c.163 others(495): Show c.1635-940_1635-939insAAGGGAGGAAGGGAGGGAGGGAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGG GAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGGAGGAAGGGAGGA AGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGG AGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAG GGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGG GAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGGAGGGAGGGAGGAAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MVP_chr16_29815462_29853021	29843574	G G	GAGGAAGG others(471): Show GAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAG GGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGG GAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGGAGGA AGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGA GGGAGGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAG GGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGG GAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGGAGGGAGGGAGGAAGG GAGGGAGGGAGGGAGGGAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	183	0.0055	478	c.163 others(495): Show c.1635-916_1635-915insAAGGGAGGAAGGGAGGAAGGGAGGGAGG GAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG TGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAG GGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGG AAGGGAGGAAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAGTGAAGG GAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGA AGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAA GGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAG GGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MVP_chr16_29815462_29853021	29843574	G G	GAGGGAGG others(471): Show GAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGAA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAG GGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGG GAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGGAGGA AGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGA GGGAGGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAG GGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGG GAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGGAGGGAGGGAGGAAGG GAGGGAGGGAGGGAGGGAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0039 a0001c0001t0002g0021 a0001c0001t0002g0039	2	184	0.0109	478	c.163 others(495): Show c.1635-912_1635-911insGAGGAAGGGAGGAAGGGAGGAAGGGAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGA AGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAA GGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAG GGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGG GAGGAAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGT GAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGG AGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGA GGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGGA GGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MVP_chr16_29815462_29853021	29843590	A A	AAGGGAGG others(471): Show AAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAG GGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGG GAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGG AGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGGAGGG AGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGA GTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAA GGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAG GGAGGAAGGGAGGGAGGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	195	0.0051	478	c.163 others(495): Show c.1635-896_1635-895insAAGGGAGGGAGGGAGGGAGGGAGGGAGG AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGA AGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAA GGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGGAG GAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGG GAGGGAGGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGG GAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGG AGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGA AGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGGAGGGAGGGAGGAAGGGA GGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NACC2_chr9_136001537_136100289	136074427	C C	CGGGCGAC others(471): Show CGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAATTAGCC AGGCATGGTGGGACACACCTGTCATTCCAGCTACTTGGGAGGCTGAGGGA GGAGGATCCCTTGAGCCTAGGAATTCGAGGCTGCAGTGAGCTATGATCCC ACCACCACACTCTAGCCTGGGGCCACAAAGCAAGACCCTGTCTCAAAAAA AAAAAAAAAAAGAAAAGAAAACAGTTCGGGCACGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGAAGGCCAAGGCGGGTGGATCATGAGGTCAGGAGAA CAAGACCATATTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp1 NA18906.hp1 others(1): Show HG01109.hp1 HG01261.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0001c0027	a0001c0001t0029 a0001c0003t0014 a0001c0007t0049 others(1): Show a0001c0001t0029 a0001c0003t0014 a0001c0007t0049 a0001c0027t0027	a0001c0001t0029g0247 a0001c0003t0014g0252 a0001c0007t0049g0246 others(1): Show a0001c0001t0029g0247 a0001c0003t0014g0252 a0001c0007t0049g0246 a0001c0027t0027g0253	4	304	0.0132	478	c.-60 others(497): Show c.-60+20761_-60+20762insAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCCAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAATATGGTC TTGTTCTCCTGACCTCATGATCCACCCGCCTTGGCCTTCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGTGCCCGAACTGTTTTCTTTTCTTTTTTTT TTTTTTTTTGAGACAGGGTCTTGCTTTGTGGCCCCAGGCTAGAGTGTGGT GGTGGGATCATAGCTCACTGCAGCCTCGAATTCCTAGGCTCAAGGGATCC TCCTCCCTCAGCCTCCCAAGTAGCTGGAATGACAGGTGTGTCCCACCATG CCTGGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGC CC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136074427	C C	CGGGCGAC others(471): Show CGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATTAGCCA GGCATGGTGGGACACACCTGTCATTCCAGCTACTTGGGAGGCTGAGGGAG GAGGATCCCTTGAGCCCAGGAATTCGAGGCTGCAGTGAGCTATGATCCCA CCACCACACTCTAGCCTGGGGCCACAAAGCAAGACCCTGTCTCAAAAAAA AAAAAAAAAAAGAAAAGAAAACAGTTCGGGCACGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGAAGGCCAAGGCGGGTGGATCATGAGGTCAGGAGAA CAAGACCATATTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0090 a0001c0003t0005g0090	1	301	0.0033	478	c.-60 others(497): Show c.-60+20761_-60+20762insAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCCAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAATATGGTC TTGTTCTCCTGACCTCATGATCCACCCGCCTTGGCCTTCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGTGCCCGAACTGTTTTCTTTTCTTTTTTTT TTTTTTTTTTGAGACAGGGTCTTGCTTTGTGGCCCCAGGCTAGAGTGTGG TGGTGGGATCATAGCTCACTGCAGCCTCGAATTCCTGGGCTCAAGGGATC CTCCTCCCTCAGCCTCCCAAGTAGCTGGAATGACAGGTGTGTCCCACCAT GCCTGGCTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGC CC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136074448	G G	GTCTCAAA others(471): Show GTCTCAAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGGACACACCTG TCATTCCAGCTACTTGGGAGGCTGAGGGAGGAGGATCCCTTGAGCCTAGG AATTCGAGGCTGCAGTGAGCTATGATCCCACCACCACACTCTAGCCTGGG GCCACAAAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAAAGAAAA CAGTTCGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGAAGGCC AAGGCGGGTGGATCATGAGGTCAGGAGAACAAGACCATATTGGCTAACAT GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTG GCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCGCGCCACTGCAC TCCAGCCTGGGCGACAGAGCAAGACTCCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02717.hp1 HG02896.hp1 others(2): Show HG01081.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp1 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0008 a0001c0017 others(1): Show a0001c0004 a0001c0008 a0001c0017 a0001c0019	a0001c0004t0011 a0001c0008t0020 a0001c0017t0047 others(1): Show a0001c0004t0011 a0001c0008t0020 a0001c0017t0047 a0001c0019t0003	a0001c0004t0011g0248 a0001c0008t0020g0048 a0001c0017t0047g0249 others(2): Show a0001c0004t0011g0248 a0001c0008t0020g0048 a0001c0017t0047g0249 a0001c0019t0003g0062 a0001c0019t0003g0063	5	346	0.0145	478	c.-60 others(497): Show c.-60+20740_-60+20741insTGGAGTCTTGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGCGATCTCGGCTCACTGCCAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC TGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCATGTTAGCCAATATGGTCTTGTTCTCCTGACCTCATGATCCACCCGC CTTGGCCTTCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCGAA CTGTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTTTGT GGCCCCAGGCTAGAGTGTGGTGGTGGGATCATAGCTCACTGCAGCCTCGA ATTCCTAGGCTCAAGGGATCCTCCTCCCTCAGCCTCCCAAGTAGCTGGAA TGACAGGTGTGTCCCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTGA GA	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136074452	C C	CAAAAAAA others(471): Show CAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGGACACACCTGTCATT CCAGCTACTTGGGAGGCTGAGGGAGGAGGATCCCTTGAGCCCAGGAATTC GAGGCTGCAGTGAGCTATGATCCCACCACCACACTCTAGCCTGGGGCCAC AAAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAAAGAAAACAGTT CGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGC GGGTGGATCATGAGGTCAGGAGAACAAGACCATATTGGCTAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCGCGCCACTGCACTCCAG CCTGGGCGACAGAGCAAGACTCCGTCTCA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0021 a0001c0002t0053g0021	1	59	0.0169	478	c.-60 others(497): Show c.-60+20736_-60+20737insTGAGACGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTAGCCAATATGGTCTTGTTCTCCTGACCTCATGATCCA CCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGC CCGAACTGTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGC TTTGTGGCCCCAGGCTAGAGTGTGGTGGTGGGATCATAGCTCACTGCAGC CTCGAATTCCTGGGCTCAAGGGATCCTCCTCCCTCAGCCTCCCAAGTAGC TGGAATGACAGGTGTGTCCCACCATGCCTGGCTAATTTTTTTTTTTTTTT TT	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136074452	C C	CAAAAAAA others(471): Show CAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGGACACACCTGTCATT CCAGCTACTTGGGAGGCTGAGGGAGGAGGATCCCTTGAGCCCAGGAATTC GAGGCTGCAGTGAGCTATGATCCTACCACCACACTCTAGCCTGGGGCCAC AAAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAAAGAAAACAGTT CGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGC GGGTGGATCATGAGGTCAGGAGAACAAGACCATATTGGCTAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCAGGAGGCGGAGCTGGCAGTGAGCCGAGATCGCGCCACTGCACTCCAG CCTGGGCGACAGAGCAAGACTCCGTCTCA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0240 a0001c0003t0005g0240	1	59	0.0169	478	c.-60 others(497): Show c.-60+20736_-60+20737insTGAGACGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCAGCTCCGCCTCCT GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTAGCCAATATGGTCTTGTTCTCCTGACCTCATGATCCA CCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGC CCGAACTGTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGC TTTGTGGCCCCAGGCTAGAGTGTGGTGGTAGGATCATAGCTCACTGCAGC CTCGAATTCCTGGGCTCAAGGGATCCTCCTCCCTCAGCCTCCCAAGTAGC TGGAATGACAGGTGTGTCCCACCATGCCTGGCTAATTTTTTTTTTTTTTT TT	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136074452	C C	CAAAAAAA others(471): Show CAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGGACACACCTGTCATT CCAGCTACTTGGGAGGCTGAGGGAGGAGGATCCCTTGAGCCCAGGAATTC GAGGCTGCAGTGAGCTATGATCCTACCACCACACTCTAGCCTGGGGCCAC AAAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAAAGAAAACAGTT CGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGC GGGTGGATCATGAGGTCAGGAGAACAAGACCATATTGGCTAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTCGCAGTGAGCCGAGATCGCGCCACTGCACTCCAG CCTGGGCGACAGAGCAAGACTCCGTCTCA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0272 a0001c0002t0003g0272	1	59	0.0169	478	c.-60 others(497): Show c.-60+20736_-60+20737insTGAGACGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCGAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTAGCCAATATGGTCTTGTTCTCCTGACCTCATGATCCA CCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGC CCGAACTGTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGC TTTGTGGCCCCAGGCTAGAGTGTGGTGGTAGGATCATAGCTCACTGCAGC CTCGAATTCCTGGGCTCAAGGGATCCTCCTCCCTCAGCCTCCCAAGTAGC TGGAATGACAGGTGTGTCCCACCATGCCTGGCTAATTTTTTTTTTTTTTT TT	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136074452	C C	CAAAAAAA others(471): Show CAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGGACACACCTGTCATT CCAGCTACTTGGGAGGCTGAGGGAGGAGGATCCCTTGAGCCCAGGAATTC GAGGCTGCAGTGAGCTATGATCCTACCACCACACTCTAGCCTGGGGCCAC AAAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAAAGAAAACAGTT CGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGC GGGTGGATCATGAGGTCAGGAGAACAAGACCATATTGGCTAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCGCGCCACTGCACTCCAG CCTGGGCGACAGAGCAAGACTCCGTCTCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(81): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02451.hp1 HG02602.hp2 HG02698.hp2 HG02895.hp1 HG03017.hp1 HG03239.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG04199.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18946.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp2 NA19079.hp2 NA19086.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0028 a0001c0035 a0004c0021 a0005c0020 a0006c0030	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(41): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0023 a0001c0001t0026 a0001c0001t0038 a0001c0001t0092 a0001c0002t0003 a0001c0002t0016 a0001c0002t0051 a0001c0002t0056 a0001c0002t0075 a0001c0003t0001 a0001c0003t0005 a0001c0003t0007 a0001c0003t0034 a0001c0003t0087 a0001c0004t0004 a0001c0004t0013 a0001c0004t0017 a0001c0004t0021 a0001c0004t0070 a0001c0004t0073 a0001c0005t0002 a0001c0005t0012 a0001c0005t0030 a0001c0005t0065 a0001c0005t0066 a0001c0005t0067 a0001c0009t0035 a0001c0010t0082 a0001c0011t0001 a0001c0012t0004 a0001c0012t0017 a0001c0012t0069 a0001c0014t0002 a0001c0014t0012 a0001c0014t0064 a0001c0028t0091 a0001c0035t0097 a0004c0021t0002 a0005c0020t0004 a0005c0020t0072 a0006c0030t0004	a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0280 others(80): Show a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0280 a0001c0001t0001g0286 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0331 a0001c0001t0008g0259 a0001c0001t0008g0277 a0001c0001t0008g0292 a0001c0001t0008g0297 a0001c0001t0009g0258 a0001c0001t0023g0287 a0001c0001t0026g0336 a0001c0001t0038g0256 a0001c0001t0092g0257 a0001c0002t0003g0243 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0270 a0001c0002t0003g0308 a0001c0002t0003g0319 a0001c0002t0003g0322 a0001c0002t0003g0323 a0001c0002t0016g0288 a0001c0002t0051g0303 a0001c0002t0056g0307 a0001c0002t0075g0041 a0001c0003t0001g0283 a0001c0003t0001g0296 a0001c0003t0001g0316 a0001c0003t0001g0328 a0001c0003t0005g0260 a0001c0003t0005g0267 a0001c0003t0005g0302 a0001c0003t0005g0310 a0001c0003t0005g0334 a0001c0003t0007g0285 a0001c0003t0007g0340 a0001c0003t0007g0341 a0001c0003t0034g0001 a0001c0003t0087g0218 a0001c0004t0004g0276 a0001c0004t0004g0281 a0001c0004t0004g0301 a0001c0004t0004g0335 a0001c0004t0013g0250 a0001c0004t0013g0264 a0001c0004t0013g0290 a0001c0004t0017g0332 a0001c0004t0021g0324 a0001c0004t0070g0255 a0001c0004t0073g0306 a0001c0005t0002g0265 a0001c0005t0002g0278 a0001c0005t0002g0279 a0001c0005t0002g0304 a0001c0005t0002g0339 a0001c0005t0012g0059 a0001c0005t0012g0273 a0001c0005t0012g0312 a0001c0005t0030g0320 a0001c0005t0065g0226 a0001c0005t0066g0309 a0001c0005t0067g0311 a0001c0009t0035g0275 a0001c0010t0082g0298 a0001c0011t0001g0251 a0001c0011t0001g0266 a0001c0012t0004g0330 a0001c0012t0017g0294 a0001c0012t0017g0295 a0001c0012t0069g0291 a0001c0014t0002g0321 a0001c0014t0012g0263 a0001c0014t0064g0269 a0001c0028t0091g0314 a0001c0035t0097g0289 a0004c0021t0002g0282 a0004c0021t0002g0327 a0005c0020t0004g0284 a0005c0020t0072g0244 a0006c0030t0004g0329	84	142	0.5915	478	c.-60 others(497): Show c.-60+20736_-60+20737insTGAGACGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTAGCCAATATGGTCTTGTTCTCCTGACCTCATGATCCA CCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGC CCGAACTGTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGC TTTGTGGCCCCAGGCTAGAGTGTGGTGGTAGGATCATAGCTCACTGCAGC CTCGAATTCCTGGGCTCAAGGGATCCTCCTCCCTCAGCCTCCCAAGTAGC TGGAATGACAGGTGTGTCCCACCATGCCTGGCTAATTTTTTTTTTTTTTT TT	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136074452	C C	CAAAAAAA others(471): Show CAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGGACACACCTGTCATTC CAGCTACTTGGGAGGCTGAGGGAGGAGGATCCCTTGAGCCCAGGAATTCG AGGCTGCAGTGAGCTATGATCCCACCACCACACTCTAGCCTGGGGCCACA AAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAACAGTT CGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGC GGGTGGATCATGAGGTCAGGAGAACAAGACCATATTGGCTAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCGCGCCACTGCACTCCAG CCTGGGCGACAGAGCAAGACTCCGTCTCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01256.hp2 HG03491.hp2 HG00323.hp1 HG01256.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0003 a0001c0003t0007 a0001c0005t0002 a0001c0002t0003 a0001c0003t0007 a0001c0005t0002	a0001c0002t0003g0169 a0001c0003t0007g0177 a0001c0005t0002g0210 a0001c0002t0003g0169 a0001c0003t0007g0177 a0001c0005t0002g0210	3	61	0.0492	478	c.-60 others(497): Show c.-60+20736_-60+20737insTGAGACGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTAGCCAATATGGTCTTGTTCTCCTGACCTCATGATCCA CCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGC CCGAACTGTTTTCTTTTCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTG CTTTGTGGCCCCAGGCTAGAGTGTGGTGGTGGGATCATAGCTCACTGCAG CCTCGAATTCCTGGGCTCAAGGGATCCTCCTCCCTCAGCCTCCCAAGTAG CTGGAATGACAGGTGTGTCCCACCATGCCTGGCTAATTTTTTTTTTTTTT TT	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136074452	C C	CAAAAAAA others(471): Show CAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGGACACACCTGTCATTCC AGCTACTTGGGAGGCTGAGGGAGGAGGATCCCTTGAGCCCAGGAATTCGA GGCTGCAGTGAGCTATGATCCCACCACCACACTCTAGCCTGGGGCCACAA AGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAACAGTT CGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGC GGGTGGATCATGAGGTCAGGAGAACAAGACCATATTGGCTAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCGCGCCACTGCACTCCAG CCTGGGCGACAGAGCAAGACTCCGTCTCA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0172 a0001c0003t0007g0172	1	59	0.0169	478	c.-60 others(497): Show c.-60+20736_-60+20737insTGAGACGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTAGCCAATATGGTCTTGTTCTCCTGACCTCATGATCCA CCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGC CCGAACTGTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTT GCTTTGTGGCCCCAGGCTAGAGTGTGGTGGTGGGATCATAGCTCACTGCA GCCTCGAATTCCTGGGCTCAAGGGATCCTCCTCCCTCAGCCTCCCAAGTA GCTGGAATGACAGGTGTGTCCCACCATGCCTGGCTAATTTTTTTTTTTTT TT	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NCOR2_chr12_124319415_124572612	124438778	C C	CAGAGAGA others(471): Show CAGAGAGAGAGAGAGAGAGAGAGAGACGGAGACCCAGAGAGACAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACGGAGA CCCAGAGAGAGGGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACCCA GAGACAGAGGAAGACAGAGACCCAGAGAGAGGGAGACAGAGACCCAGAGA GAGAGAGACGGAGACCCAGAGACAGAGGGAGAGAGAGACCCAGAGACAGA GGGAGACAGAGACCCAGAGAGAGAGAGATGGAGACCCTGAGACAGAGGGA GACAGAGACCCAGAGAGAGAAACAGAGACCCAGAGACAGAGGGAGAGACA GAGACCCAGAGACAGAGACCCAGAGAGACAGGGAAACAGAGAACCAGAGA GAGAGAGAGAGACAGAGACCCAGAGAGACAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGACAGAGACCCAGAGAGACAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0157 a0002c0001t0003g0157	1	40	0.0250	478	c.816 others(493): Show c.816-783_816-782insCTGTCTCTCTGGGTCTCTGTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTGTCTCTCTGGGTCTCTGTCTCTCTCTCTCT CTCTGGTTCTCTGTTTCCCTGTCTCTCTGGGTCTCTGTCTCTGGGTCTCT GTCTCTCCCTCTGTCTCTGGGTCTCTGTTTCTCTCTCTGGGTCTCTGTCT CCCTCTGTCTCAGGGTCTCCATCTCTCTCTCTCTGGGTCTCTGTCTCCCT CTGTCTCTGGGTCTCTCTCTCCCTCTGTCTCTGGGTCTCCGTCTCTCTCT CTCTGGGTCTCTGTCTCCCTCTCTCTGGGTCTCTGTCTTCCTCTGTCTCT GGGTCTCTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCCCTCTCTCTGGGT CTCCGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTGTCTCTCTGGGTCTCCGTCTCTCTCTCTCTCTCTCTCTCTCT	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	9/48			chr12	TogoVar
NFATC1_chr18_79390930_79534323	79494279	C C	CGCCGGGG others(471): Show CGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCC GGGGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTACGGCCGG GGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGG GAAGGCGAGAGCGGGCACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAG GCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGC GAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATCGACCTGGTACGGCCGGGGGAAGGCGAGA GCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGC GGGCACACGCCCCCCATCGACCTGGTGCG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02717.hp2 HG02895.hp1 others(4): Show HG01952.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03041.hp2 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0028 a0001c0005 a0001c0028	a0001c0005t0005 a0001c0005t0011 a0001c0028t0007 a0001c0005t0005 a0001c0005t0011 a0001c0028t0007	a0001c0005t0005g0055 a0001c0005t0011g0131 a0001c0005t0011g0137 others(4): Show a0001c0005t0005g0055 a0001c0005t0011g0131 a0001c0005t0011g0137 a0001c0005t0011g0138 a0001c0005t0011g0139 a0001c0005t0011g0142 a0001c0028t0007g0127	7	152	0.0461	478	c.278 others(497): Show c.2782+7426_2782+7427insGAACCTGGTGCGGCCGGGGGAAGGCG AGAACGGGCACACGCCCCCCATCAACCTGGTACGGCCGGGGGAAGGCGAG AGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAG CGGGCACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGG CACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCA CACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACA CGCCCCCCATCGACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACG CCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCC CCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCC CCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCC AT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(471): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCAT CCATCCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTAT CCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTC CATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCA TCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCAT TCATTAGTTTATCCATCCTCACCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01167.hp2 HG01169.hp1 others(6): Show HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01257.hp2 HG02135.hp1 NA18939.hp2 NA18959.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0037 a0002c0002t0007 a0002c0002t0037	a0002c0002t0007g0004 a0002c0002t0007g0048 a0002c0002t0007g0157 others(6): Show a0002c0002t0007g0004 a0002c0002t0007g0048 a0002c0002t0007g0157 a0002c0002t0007g0292 a0002c0002t0007g0311 a0002c0002t0007g0313 a0002c0002t0007g0361 a0002c0002t0037g0085 a0002c0002t0037g0178	9	61	0.1475	478	c.47 others(487): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCATCCAT CCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCAT CCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATC CATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCA TCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCAT TAGTTTATCCATCCTCACCCATCCATCCATCCATCCATCCAT	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(471): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCAT CCATCCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCAT CCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATC CATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCA TCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCAT TAGTTTATCCATCCTCACCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0099 a0002c0002t0099	a0002c0002t0099g0218 a0002c0002t0099g0218	1	53	0.0189	478	c.47 others(487): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCATCCAT CCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCAT CCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATCCATC CATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCA TCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGT TTATCCATCCTCACCCATCCATCCATCCATCCATCCATCCAT	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(471): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCAT CCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCAT CCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATC CATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCA TCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCAT TAGTTTATCCATCCTCACCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0101 a0002c0002t0101	a0002c0002t0101g0042 a0002c0002t0101g0042	1	53	0.0189	478	c.47 others(487): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCATCCAT CCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCAT CCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATCCATC CATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCA TCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGT TTATCCATCCTCACCCATCCATCCATCCATCCATCCATCCAT	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(471): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCATCCAT CCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCAT CCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATC CATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCA TCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCAT TAGTTTATCCATCCTCACCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 NA19001.hp2 NA19005.hp2 others(2): Show HG03579.hp1 NA19001.hp2 NA19005.hp2 NA19010.hp1 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0039 a0002c0002t0040 a0002c0002t0115 a0002c0002t0039 a0002c0002t0040 a0002c0002t0115	a0002c0002t0039g0156 a0002c0002t0039g0348 a0002c0002t0040g0207 others(2): Show a0002c0002t0039g0156 a0002c0002t0039g0348 a0002c0002t0040g0207 a0002c0002t0040g0274 a0002c0002t0115g0334	5	57	0.0877	478	c.47 others(487): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC TTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCATCCATCCAT CCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCAT CCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATCCATC CATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCA TCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGT TTATCCATCCTCACCCATCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NHLRC4_chr16_562005_574495	571084	T T	TGTGTGTG others(471): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTC TGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTG TCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTA TGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTG TGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTG CCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTGGCTAGCCTGGCGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	478	c.26 others(489): Show c.2665_*2666insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAG CCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCC GTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1590		chr16	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTGTGTG others(471): Show TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTG TGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTG TGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTG CCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTA GCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTG TGTGTGTGTGTCTGGCTAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG01243.hp2 others(1): Show HG00642.hp2 HG01070.hp2 HG01243.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	353	0.0113	478	c.26 others(489): Show c.2689_*2690insGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGT GTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAG CCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCC GTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCC TGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGC TAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGC CCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(471): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	157	0.0064	478	c.91+ others(491): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(471): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAACAT GTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0001 a0001c0001t0035g0001	1	122	0.0082	478	c.70 others(489): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(471): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACACATATAACATGTATTACATATATGTAATACACATATAACAT GTATTACATATATGTAATACACATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	122	0.0082	478	c.70 others(489): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACACATATAACATGTATTACATATATGTA ATACACATATAACATGTATTACATATATGTAATACACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(471): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAACAT GTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	122	0.0082	478	c.70 others(489): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(471): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAATATGTATTACATATATGTAATACATATATAACAT GTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0011 a0001c0001t0014g0011	1	122	0.0082	478	c.70 others(489): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAATATGTATTACATATATGTA ATACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(471): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATGTATTACATATATGTATTACATATATAACAT GTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0001 a0001c0001t0032g0001	1	122	0.0082	478	c.70 others(489): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATGTATTACATATATGTA TTACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(471): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTGTTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAACAT GTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	122	0.0082	478	c.70 others(489): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTGTTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721656	A A	ATATATGT others(471): Show ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATTACGTATATGTAATACACATATAACATATATTACGTA TATGTAATACACATATAACATATATTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	278	0.0036	478	c.70 others(489): Show c.7094_*7095insTATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATTACGTATATGTAATACACATAT AACATATATTACGTATATGTAATACACATATAACATATATTACG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3176		chr20	TogoVar
PCBP3_chr21_45638725_45947450	45910104	C C	CCACCCAC others(471): Show CCACCCACTGCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATACGG ACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAG ATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGC CCAGATACAGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACC CACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCC CCCACACACACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGATA CGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCCACACACACTT CCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGGCCCAC CCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGACCCCC CCCCACCCACTTCCCAGATATGGACCTGG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	226	0.0044	478	c.471 others(493): Show c.471+619_471+620insACCCACTGCCCAGATACGGACCCCCCCCCG CCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCC GGCCCACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACG GACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAG ATATGGACCCCCCCAACCCACTTCCCAGATACGGACCCCCCCACACACAC TTCCCAGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCC ACACACACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGATACGG ACCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCA AATATGGACCTGGCCCACCCACTGCCCAGATATGGACCCCCCCCACCACT GCCCAGATACGGACCCCCCCCCACCCACTTCCCAGATATGGACCTGGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK6_chr15_101298933_101494707	101311786	C C	CCCCTCAC others(471): Show CCCCTCACAGCCCACCCCATCATCACACCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0259 a0001c0002t0004g0259	1	313	0.0032	478	c.269 others(497): Show c.2699+1589_2699+1590insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGTGTGATGATGGGGTGGGCTGTGAG GG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311897	C C	CCACCCCA others(471): Show CCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGC CCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGC TCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACACCCTCACAG CTCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACACCCTCACA GCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACA GCCCACCCCATCGTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACA GCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACA GCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACA GCCCACCCCATCGTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACA GCCCACCCCATCGTCACACCCTCACAGCT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0033 a0002c0017t0001g0033	1	325	0.0031	478	c.269 others(497): Show c.2699+1478_2699+1479insAGCTGTGAGGGTGTGACGATGGGGTG GGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGACGATGGGGTG GGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTG GGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTG GGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGACGATGGGGTG GGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTG GGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGT GAGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGG TGAGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGG TGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGG TG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar

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