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
DCDC2C_chr2_3698575_3853008	3704585	A A	AGGGGCGT others(211): Show AGGGGCGTGGGGGGCGTGGGGGGCGTGGGGGAGGGGTGTGGAGAGGGGCG TGGGGGAGGGGTGTGGAGAGGGGCATGGGGGAGGGGTGTGGAGAGGGGCG TGGGGGGCGTGGGGAGGAGTGTAGGGGAGGGGGAGGGGGGAGGGGCGTGG GGGAGGGGCATGGGGCAGAAACAGGGGTGTGGAGGAGGGCATGGGGGAGG GGTGTGGAGAGGGGCGTGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp1 HG03453.hp1 HG02630.hp2 HG02922.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0004 a0002c0003t0016 a0002c0004t0004 a0002c0003t0004 a0002c0003t0016 a0002c0004t0004	a0002c0003t0004g0008 a0002c0003t0016g0011 a0002c0004t0004g0009 a0002c0003t0004g0008 a0002c0003t0016g0011 a0002c0004t0004g0009	3	324	0.0093	218	c.287 others(233): Show c.287+568_287+569insGCGTGGGGGAGGGGTGTGGAGAGGGGCGTG GGGGAGGGGTGTGGAGAGGGGCATGGGGGAGGGGTGTGGAGAGGGGCGTG GGGGGCGTGGGGAGGAGTGTAGGGGAGGGGGAGGGGGGAGGGGCGTGGGG GAGGGGCATGGGGCAGAAACAGGGGTGTGGAGGAGGGCATGGGGGAGGGG TGTGGAGAGGGGCGTGGGGGGCGTGGGGGGCGTGGGGG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463392	A A	ACATCTCC others(211): Show ACATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCA CGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCC ACGCATCTCCTCACTCCACGCATGTCCTCACTGCACGCATCTCACTCCAC ACATCACCTCACTCCACACATCTCCTCACTCCACACATCTCCTCACTCCA CGCATCTCCTCACTCCACG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0142 a0001c0003t0005g0142	1	336	0.0030	218	c.318 others(235): Show c.3187-701_3187-700insCTCCTCACTCCACGCATCTCCTCACTCC ACGCATCTCCTCACTCCACGCATGTCCTCACTGCACGCATCTCACTCCAC ACATCACCTCACTCCACACATCTCCTCACTCCACACATCTCCTCACTCCA CGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCC ACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCAT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS12_chr13_51762993_51809163	51775059	A A	AGTATTCT others(211): Show AGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAG TATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACATGTATTCTACA GTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACATGTATTCTCC TACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTC CTACAGTATTCTCCTACAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	420	0.0024	218	c.364 others(235): Show c.364-1026_364-1025insATGTAGGAGAATACTGTAGGAGAATACA TGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGGAGAATAC ATGTAGGAGAATACTGTAGGAGAATACATGTAGGAGAATACTGTAGAATA CATGTAGGAGAATACTGTAGGAGAATACATGTAGGAGAATACTGTAGAAT ACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(211): Show TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19060.hp1 HG03098.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0175 a0001c0001t0001g0152 a0001c0001t0001g0175	2	284	0.0070	218	c.101 others(237): Show c.101-32145_101-32144insCTCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DLEC1_chr3_38034208_38129025	38087560	T T	TCCATCAG others(211): Show TCCATCAGCACTGACACCATCCATTAGCACTGACACCATCCATCAGCATG CTCACACCATCCATCAGCACTGACACCATCCATTAGCACTGACACCATCC ATCAGCATGCTCACACCATCCATCAGCACTGACACCATCCATCAGCATGC TCACACCATCCATCAGCACTGACACCATCCATTAGCACTGACACCATCCA TCAGCATGCTCACACCATC	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA20300.hp2 HG03139.hp1 NA20300.hp2	a0018 a0028 a0018 a0028	a0018c0037 a0028c0036 a0018c0037 a0028c0036	a0018c0037t0002 a0028c0036t0003 a0018c0037t0002 a0028c0036t0003	a0018c0037t0002g0010 a0028c0036t0003g0009 a0018c0037t0002g0010 a0028c0036t0003g0009	2	298	0.0067	218	c.157 others(235): Show c.1573-713_1573-712insTAGCACTGACACCATCCATCAGCATGCT CACACCATCCATCAGCACTGACACCATCCATTAGCACTGACACCATCCAT CAGCATGCTCACACCATCCATCAGCACTGACACCATCCATCAGCATGCTC ACACCATCCATCAGCACTGACACCATCCATTAGCACTGACACCATCCATC AGCATGCTCACACCATCCCATCAGCACTGACACCATCCAT	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	9/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLGAP2_chr8_732628_1713476	1255350	G G	GGTGCTGT others(211): Show GGTGCTGTGTGTGTGCCCTCTCATCCTGCCCGGGTGCTGTGTGTGTGCCC TCTCATCCTGCCCGGGTGCTGTGTGTGTGCCCTCTCATCCTGTCTGGGTG CTGTGTGTGTGTCCTCTCATCCTGCCCAGCCGCTGTGTGTGTGTCCTCTC ATCCTGCCTGGGTGCTGTGTGTGTGTCCTCTCCTGCTCGGGCGCTGAGTG TGTGTCCTCTCCTGCCCGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	218	c.74- others(233): Show c.74-3455_74-3454insCCCTCTCATCCTGCCCGGGTGCTGTGTGTG TGCCCTCTCATCCTGTCTGGGTGCTGTGTGTGTGTCCTCTCATCCTGCCC AGCCGCTGTGTGTGTGTCCTCTCATCCTGCCTGGGTGCTGTGTGTGTGTC CTCTCCTGCTCGGGCGCTGAGTGTGTGTCCTCTCCTGCCCGAGTGCTGTG TGTGTGCCCTCTCATCCTGCCCGGGTGCTGTGTGTGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643086	C C	CCCCGCCG others(211): Show CCCCGCCGGTCCTCACCTGTGTCACCCCTCGACCCCGCCGGCCCTCACCT GTGTCACCCTCGACCCCGCCGGCCCCCACCTGTGTCACCCTCCAACCCGC CGGCCCTCACCTGTGTCACCGTCGACCCCGCCGGCCCTCACCTGTGTCAC CCTCCAACCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGGCCCT CACCTGTGTCACCCTCCAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	40	0.0250	218	c.181 others(239): Show c.1810+10048_1810+10049insTCCTCACCTGTGTCACCCCTCGAC CCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCCCACCTGT GTCACCCTCCAACCCGCCGGCCCTCACCTGTGTCACCGTCGACCCCGCCG GCCCTCACCTGTGTCACCCTCCAACCCGCCGGCCCTCACCTGTGTCACCC TCCAACCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643394	G G	GAACCCGC others(211): Show GAACCCGCCGGCCCCCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACC TGTGTCACCCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCC GCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGGCCCTCACCTGTGTC ACCCTCCAACCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGGCC CTCACCTGTGTCACCCTCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	218	c.181 others(239): Show c.1810+10349_1810+10350insACCCGCCGGCCCCCACCTGTGTCA CCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCCTCGACCCCGCCGGCC CTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCC AACCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGGCCCTCACCT GTGTCACCCTCCAACCCGCCGGCCCTCACCTGTGTCACCCTCCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32554924	A A	AGAAAGAA others(211): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0021 a0001c0001t0008g0021	1	126	0.0079	218	c.199 others(237): Show c.1993-9591_1993-9590insCTTTCTTTCTTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33010003	T T	TGTGTATA others(211): Show TGTGTATATACACATGTGTGTATGTGTGTACACACATGTGTGTATATACA CATGTGTGTATGTGTGTACACACATGTGTGTATATACACATGTGTGTATG TGTGTACACACATGTGTGTATATACACATGTGTGTGTACATGTGTGTATA TACACATGTGTGTGTACATGTGTATATACACATGTGTGTGTACATGTGTA TATACACATGTGTGTGTAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0027 a0027	a0027c0046 a0027c0046	a0027c0046t0029 a0027c0046t0029	a0027c0046t0029g0126 a0027c0046t0029g0126	1	126	0.0079	218	c.93+ others(235): Show c.93+10135_93+10136insGTACACACACATGTGTATATACACATGT ACACACACATGTGTATATACACATGTACACACACATGTGTATATACACAC ATGTACACACACATGTGTATATACACACATGTGTGTACACACATACACAC ATGTGTATATACACACATGTGTGTACACACATACACACATGTGTATATAC ACACATGTGTGTACACACATACACACATGTGTATATACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DNAH10_chr12_123757301_123940714	123912143	G G	GGGGGTCT others(211): Show GGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGG GGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGT CTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGCGGGGGGGTC TGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGT CCTGGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0059 a0059	a0059c0051 a0059c0051	a0059c0051t0001 a0059c0051t0001	a0059c0051t0001g0039 a0059c0051t0001g0039	1	170	0.0059	218	c.101 others(237): Show c.10135-951_10135-950insTCTGTCCTGGGGGGGGTCTGTCCTGG GGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGG GTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGG TCTGTCCTGCGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGT CTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(211): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATCCCATATATATGATATATATATGATATATATATGATATATATATC CCATATATATGATATATATATGATATATATGATATATATGGGATATATAT ATCATATATATATCATATATATGGGATATATATATCATATATATCATATA TATGGGATATATATATCAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA19060.hp2 HG00323.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0098 a0001c0001t0001g0104	2	336	0.0060	218	c.22- others(235): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATATGATATATATATC CCATATATATCATATATATCATATATATATCATATATATGGGATATATAT ATCATATATATATCATATATATATCATATATATGGGATATATATATCATA TATATATCATATATATGGGATATATATATCATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAJB6_chr7_157332004_157422439	157370085	A A	AACATTAT others(211): Show AACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAATGGGACC CTTCTTAAGATTATTAAACGGGCCCCTTCTTAACATTATTATTAAAGAGG CCCTTTCTTCACATTATTATTAAACAGGCCCTTTCTTAACATTATTATTA AATGGGACCCTTCTTAAGATTATTAAACGGGCCCCTTCTTAACATTATTA TTAAAGAGGCCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19079.hp1 NA19091.hp1 HG02129.hp2 NA19079.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0001t0002g0260 a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0001t0002g0260	3	372	0.0081	218	c.346 others(235): Show c.346+2697_346+2698insGAGGCCCTTTCTTCACATTATTATTAAA CAGGCCCTTTCTTAACATTATTATTAAATGGGACCCTTCTTAAGATTATT AAACGGGCCCCTTCTTAACATTATTATTAAAGAGGCCCTTTCTTCACATT ATTATTAAACAGGCCCCTTCTTAACATTATTATTAAATGGGACCCTTCTT AAGATTATTAAACGGGCCCCTTCTTAACATTATTATTAAA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(211): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATATAATATATATAATATATATAATATATATATAATATATATAATAT ATATATAATATATATAATATATATATAATATATATATTATATATATTATA TATATAATATATATATAATATATATATAATATATATATAATATATATATT TAAAAGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0175 a0001c0001t0001g0180	2	298	0.0067	218	c.554 others(235): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATAATATAT ATATAATATATATAATATATATATAATATATATAATATATATATAATATA TATATTATATATATTATATATATAATATATATATAATATATATATAATAT ATATATAATATATATATTTAAAAGTATATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(211): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATATAATATATATAATATATATATAATATATATAATATATATAATAT ATATATAATATATATAATATATATATAATATATATATTATATATATTATA TATATAATATATATATAATATATATATAATATATATATAATATATATATT TAAAAGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	298	0.0034	218	c.554 others(235): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATATAATAT ATATAATATATATAATATATATATAATATATATAATATATATATAATATA TATATTATATATATTATATATATAATATATATATAATATATATATAATAT ATATATAATATATATATTTAAAAGTATATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
ELL2_chr5_95880098_95966851	95927400	T T	TACACACA others(211): Show TACACACACACACGTGTGTATATATAGACATACACACACACGTGTGTATA TATAGACATACACACACACGTGTGTATATATAGACATACACACACACGTG TGTATATAGACATACACACACACGTGTGTATATAGACATACACACACACG TGTGTATATAGACATACACACACACGTGTGTATATAGACATACACACACA CGTGTGTATATAGACATAC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	314	0.0032	218	c.196 others(235): Show c.196-7856_196-7855insGTATGTCTATATACACACGTGTGTGTGT ATGTCTATATACACACGTGTGTGTGTATGTCTATATACACACGTGTGTGT GTATGTCTATATACACACGTGTGTGTGTATGTCTATATACACACGTGTGT GTGTATGTCTATATATACACACGTGTGTGTGTATGTCTATATATACACAC GTGTGTGTGTATGTCTATATATACACACGTGTGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ESYT2_chr7_158725997_158834509	158729238	G G	GGGGAGGA others(211): Show GGGGAGGAGCAAATGTGGAGGTGCTGGGGGGAGGAGCAGGTGTGGAGATA GTGGGGGAAGAGCAAGCATGGAGGTGTTGGGAGAAGCAAGTGTGGATGTG CAAGCGTGGAGGTGGGGGGCTTGGCGCAAGCGTGGAGGTGCTGGGGGGAG GAGCAAGGTGGAGGTTGGGACTGGAGCAAATGTGGAGGTGCTGGGGGGAG GAGCAGGTGTGGAGATAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0026 a0003c0003t0026	a0003c0003t0026g0358 a0003c0003t0026g0358	1	370	0.0027	218	c.49 others(229): Show c.4968_*4969insACTATCTCCACACCTGCTCCTCCCCCCAGCACCT CCACATTTGCTCCAGTCCCAACCTCCACCTTGCTCCTCCCCCCAGCACCT CCACGCTTGCGCCAAGCCCCCCACCTCCACGCTTGCACATCCACACTTGC TTCTCCCAACACCTCCATGCTTGCTCTTCCCCCACTATCTCCACACCTGC TCCTCCCCCCAGCACCTCCACATTTGCTCCTCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1758		chr7	TogoVar
ETFB_chr19_51340169_51371388	51345864	T T	TGAACCCT others(211): Show TGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCT GAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCC TCCCTATAGGCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGA TGCGCTGAACCCTCCCCTATAGGCTGAGATGATGAGCTGAACCCTCCCTA TAGACTGAGATGATGCGCA	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA20752.hp2 HG01255.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0288 a0001c0001t0001g0233 a0001c0001t0001g0288	2	436	0.0046	218	c.598 others(233): Show c.598-484_598-483insTGCGCATCATCTCAGTCTATAGGGAGGGTT CAGCTCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAGCC TATAGGGAGGGTTCAGGGCATCATCTCAGCCTATAGGGAGGGTTCAGCGC ATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGG AGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTC	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	5/5			chr19	TogoVar
ETFB_chr19_51340169_51371388	51345864	T T	TGAACCCT others(211): Show TGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCT GAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCC TCCCTATAGGCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGA TGCGCTGAACCCTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTA GAGACTGAGATGATGCGCA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	436	0.0023	218	c.598 others(233): Show c.598-484_598-483insTGCGCATCATCTCAGTCTCTAGGGAGGGTT CAGCGCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAGCC TATAGGGAGGGTTCAGGGCATCATCTCAGCCTATAGGGAGGGTTCAGCGC ATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGG AGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTC	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	5/5			chr19	TogoVar
ETFB_chr19_51340169_51371388	51345864	T T	TGAACCCT others(211): Show TGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCT GAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCC TCCCTATAGGCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGA TGCGCTGAACCCTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTA TAGACTGAGATGATGCGCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(237): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01070.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(183): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0337 a0003c0004t0001g0101 a0003c0004t0001g0109	240	436	0.5505	218	c.598 others(233): Show c.598-484_598-483insTGCGCATCATCTCAGTCTATAGGGAGGGTT CAGCGCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAGCC TATAGGGAGGGTTCAGGGCATCATCTCAGCCTATAGGGAGGGTTCAGCGC ATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGG AGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTC	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	5/5			chr19	TogoVar
ETFB_chr19_51340169_51371388	51345864	T T	TGAACCCT others(211): Show TGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCT GAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCC TCCCTATAGGCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGA TGCGCTGAACCCTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTA TAGACTGAGATGATGTGCA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	436	0.0023	218	c.598 others(233): Show c.598-484_598-483insTGCACATCATCTCAGTCTATAGGGAGGGTT CAGCGCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAGCC TATAGGGAGGGTTCAGGGCATCATCTCAGCCTATAGGGAGGGTTCAGCGC ATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGG AGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTC	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	5/5			chr19	TogoVar
ETFB_chr19_51340169_51371388	51345864	T T	TGAACCCT others(211): Show TGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCT GAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCC TCCCTATAGGCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGA TGCGCTGAACCCTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTA TAGGCTGAGATGATGCGCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	436	0.0023	218	c.598 others(233): Show c.598-484_598-483insTGCGCATCATCTCAGCCTATAGGGAGGGTT CAGCGCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAGCC TATAGGGAGGGTTCAGGGCATCATCTCAGCCTATAGGGAGGGTTCAGCGC ATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGG AGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTC	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	5/5			chr19	TogoVar
FAIM2_chr12_49861896_49908900	49877509	T T	TAAGTCTA others(211): Show TAAGTCTAAAAGTCATGCCTCAGCCTTGGATTTGTGTGGCCATTTTTACT TTTCGAAGTGTTTTTCTAATTGTGAGGAAGTTAGGGCATATATCGCCATC CCCACTAGAAAAGTCTAAAAGTCATGCCTCAGCCTTGGATTTGTGTGGCC ATTTTTACTTTTCGAAGTGTTTTTCTAATTGTGAGGAAGTTAGGGCATAT ATCGCCATCCCCACTAGAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02486.hp2 others(7): Show HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02698.hp1 HG02895.hp1 HG02922.hp2 HG03491.hp1 HG03579.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0024 others(2): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0024 a0001c0001t0033 a0001c0001t0052	a0001c0001t0004g0044 a0001c0001t0009g0158 a0001c0001t0009g0159 others(4): Show a0001c0001t0004g0044 a0001c0001t0009g0158 a0001c0001t0009g0159 a0001c0001t0024g0008 a0001c0001t0033g0131 a0001c0001t0033g0148 a0001c0001t0052g0095	10	436	0.0229	218	c.802 others(235): Show c.802-6857_802-6856insTTCTAGTGGGGATGGCGATATATGCCCT AACTTCCTCACAATTAGAAAAACACTTCGAAAAGTAAAAATGGCCACACA AATCCAAGGCTGAGGCATGACTTTTAGACTTTTCTAGTGGGGATGGCGAT ATATGCCCTAACTTCCTCACAATTAGAAAAACACTTCGAAAAGTAAAAAT GGCCACACAAATCCAAGGCTGAGGCATGACTTTTAGACTT	FAIM2	ENSG00000135472.9	transcript	ENST00000320634.8	protein_coding	11/11			chr12	TogoVar
FAM86B1_chr8_12177106_12199082	12182436	G G	GGGAGTTA others(211): Show GGGAGTTAGGGACTTGGTGTAGGGGTGGGTTGCCCCTACACACATGTGGG TGTTTCTCGTAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGAG ACAAAGTATAGAGAAAGAAATAAGGGGAACCGGGGAACCAGCGTTCAGCA TATGGAGGATCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCATC TGTGGGTGTTTCTCAAAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp2 HG01257.hp1 HG01070.hp2 HG01257.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0005 a0009c0011t0005	a0009c0011t0005g0023 a0009c0011t0005g0024 a0009c0011t0005g0023 a0009c0011t0005g0024	2	176	0.0114	218	c.11 others(229): Show c.1169_*1170insTCTTTGAGAAACACCCACAGATGATCAATAAATA CTAAGGGAACTCAGAGGCTGGCGGGATCCTCCATATGCTGAACGCTGGTT CCCCGGTTCCCCTTATTTCTTTCTCTATACTTTGTCTCTGTGTCTTTTTC TTTTCCAAATCTCTCGTCCCACCTTACGAGAAACACCCACATGTGTGTAG GGGCAACCCACCCCTACACCAAGTCCCTAACTCC	FAM86B1	ENSG00000186523.15	transcript	ENST00000448228.7	protein_coding	7/7	1169		chr8	TogoVar
FER1L6_chr8_123846987_124125061	123856240	C C	CATATGTG others(211): Show CATATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTA TATACATATGTGTATGAGATATATGTATATACATATGTGTATGAGATATA TGTATATACATATGTGTATGAGATATATGTATATACATATGTGTATGAGA TATATGTATATACATATGTGTATGAGATATATGTATATACATATGTGTAT GAGATATATGTATATACAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0003 a0003c0016t0003	a0003c0016t0003g0072 a0003c0016t0003g0072	1	196	0.0051	218	c.-8+ others(233): Show c.-8+4057_-8+4058insATGTGTATGAGATATATGTATATACATATG TGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATATACA TATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATA TACATATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATG TATATACATATGTGTATGAGATATATGTATATACATAT	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
GALR1_chr18_77244848_77282900	77259015	G G	GTGTTGGT others(211): Show GTGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGATGGTGGTCATGGT GGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTG ATGTTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGACGGTGAT GATGATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTG GTGGTCACAGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03834.hp2 HG04115.hp1 HG02602.hp1 HG03834.hp2 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0030 a0001c0002t0054 a0001c0002t0002 a0001c0002t0030 a0001c0002t0054	a0001c0002t0002g0145 a0001c0002t0030g0196 a0001c0002t0054g0191 a0001c0002t0002g0145 a0001c0002t0030g0196 a0001c0002t0054g0191	3	366	0.0082	218	c.732 others(235): Show c.732+2800_732+2801insGTGGTCATGGTGGTCATGGTGGTGATGA TGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGT CACAGTGGTGGTGATGTTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGG TGATGACGGTGATGATGATGGTGGTCATGGTGGCGATTGTGGTGATGGTG GTGGATGGTGGTGGTGGTCACAGTGGTGGTGATGTTGGTG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GMDS_chr6_1618806_2250605	1897946	T T	TCCTGGCC others(211): Show TCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCAT CCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGC CTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGAC ACCTACCCTGGCCTCCCTTTGCCATCCTGGACACCTATCCTGGCCACCCT TGCCATCCTGGACACCTAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	166	0.0060	218	c.771 others(237): Show c.771+32156_771+32157insGTAGGTGTCCAGGATGGCAAGGGTGG CCAGGATAGGTGTCCAGGATGGCAAAGGGAGGCCAGGGTAGGTGTCCAGG ATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGG TAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAA GGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GNG7_chr19_2506219_2707694	2553987	T T	TATATAAT others(211): Show TATATAATATATTACACATATGTATATATTATATGTAATATATAATATAT TACACATATGTATATATTATATGTAATATATAATATATTACACATATGTA TATATTATATGTAATATATATTACACATATGTATATATTATATGTAATAT ATATTACACATATGTATATATTATATGTAATATATATTACACATATGTAT ATATTATATGTAATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0199 a0001c0001t0003g0199	1	206	0.0049	218	c.-38 others(235): Show c.-38+1161_-38+1162insTATATATTACATATAATATATACATATG TGTAATATATATTACATATAATATATACATATGTGTAATATATATTACAT ATAATATATACATATGTGTAATATATATTACATATAATATATACATATGT GTAATATATTATATATTACATATAATATATACATATGTGTAATATATTAT ATATTACATATAATATATACATATGTGTAATATATTATAT	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	3/4			chr19	TogoVar
GPIHBP1_chr8_143208218_143222170	143218313	A A	AACACCAC others(211): Show AACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCAACAC CACCCCCAACACCACCCCCACACCGCCCCCAACACCATCCCCCACACCAC CCCCAACACCACCCCCACACTGCCCCCACACCAGCCCCAACACCACCCCC AACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACA CCACCCAACACCATGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	106	0.0094	218	c.27 others(229): Show c.2795_*2796insACACCACCCCAACACCACCCCCAACACCACCCCA ACACCACCCCAACACCACCCCCAACACCACCCCCACACCGCCCCCAACAC CATCCCCCACACCACCCCCAACACCACCCCCACACTGCCCCCACACCAGC CCCAACACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCA ACACCACCCCCAACACCACCCAACACCATGCCCC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1144		chr8	TogoVar
GPR157_chr1_9095305_9134102	9116309	T T	TATAATTA others(211): Show TATAATTATATTATATATTATATGTAATATAAATATATATAATTATATTA TATATATTATATGTAATATAATTATATATATTTATATTATATATTATATA TAATATAATTATATATATAATTATAATATATATTATATATAATATAATTA TATATATAATTTATATATATTATATATAATATAATTATATATATAATATA TATATAATTATATATATTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp2 HG02559.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0268 a0001c0001t0008g0269 a0001c0001t0008g0268 a0001c0001t0008g0269	2	404	0.0050	218	c.384 others(235): Show c.384-4821_384-4820insTAATATATATAATTATATATATATTATA TATATAATTATATTATATATAATATATATAAATTATATATATAATTATAT TATATATAATATATATTATAATTATATATATAATTATATTATATATAATA TATAATATAAATATATATAATTATATTACATATAATATATATAATATAAT TATATATATTTATATTACATATAATATATAATATAATTAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
HERC4_chr10_67916905_68080283	68059721	T T	TATATTAT others(211): Show TATATTATAATATTATATATCATAATATTATATATTATAATATTATATAT CATAATATTATATATCATAATATTATATATCATAATATTATATATCATAA TATTATATATCATAATATTATATATCATAATATTATATATCATAATATTA TATATCATAATATTATATATCATAATATTATATATTATAATATTATATAT CATAATATTATATATTATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	360	0.0028	218	c.226 others(237): Show c.226+13161_226+13162insTATAATATATAATATTATGATATATA ATATTATAATATATAATATTATGATATATAATATTATGATATATAATATT ATGATATATAATATTATGATATATAATATTATGATATATAATATTATGAT ATATAATATTATGATATATAATATTATGATATATAATATTATGATATATA ATATTATAATATATAATATTATGATATATAATATTATAATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HES4_chr1_993964_1005097	996728	A A	AGGACCCC others(211): Show AGGACCCCCCGCTGGAGGGGGCACCTCACGTCTGGGGCCACAGGATGCAG GGTGGGGAGGACAGAAAGGACCCCCCGCTGGAGGGGGGACCCCCCGCTGG AGGGGGCACCCCACATCTGGGGCCACAGGATGCAGGGTGGGGAGGGCAGA AAGGACCCCCCGCTGGAGGGGGCACCTCACGTCTGGGGCCACAGGAGGCA GGGTGGGGAGGACAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01928.hp1 others(3): Show HG01167.hp1 HG01169.hp1 HG01928.hp1 HG01943.hp2 HG01975.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	396	0.0152	218	c.23 others(229): Show c.2330_*2331insCTTTCTGTCCTCCCCACCCTGCCTCCTGTGGCCC CAGACGTGAGGTGCCCCCTCCAGCGGGGGGTCCTTTCTGCCCTCCCCACC CTGCATCCTGTGGCCCCAGATGTGGGGTGCCCCCTCCAGCGGGGGGTCCC CCCTCCAGCGGGGGGTCCTTTCTGTCCTCCCCACCCTGCATCCTGTGGCC CCAGACGTGAGGTGCCCCCTCCAGCGGGGGGTCC	HES4	ENSG00000188290.11	transcript	ENST00000304952.11	protein_coding		2235		chr1	TogoVar
HTR2C_chrX_114579086_114915061	114807369	C C	CTATACCA others(211): Show CTATACCATGTATATACGCCATATATCTATACCATGTATATACGCCATAT CTATACCATGTATATACGCCATATCTATACCATGTATATACGCCATATCT ATACCATATATATACGCCATATATATACCATATATATACGCCATATATAT ACCATATATATACGCCATATATATACCATATATATACGCCATATATATAC CATATATATACGCCATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	176	0.0057	218	c.350 others(237): Show c.350-40626_350-40625insGTATATACGCCATATATCTATACCAT GTATATACGCCATATCTATACCATGTATATACGCCATATCTATACCATGT ATATACGCCATATCTATACCATATATATACGCCATATATATACCATATAT ATACGCCATATATATACCATATATATACGCCATATATATACCATATATAT ACGCCATATATATACCATATATATACGCCATATATATACCAT	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132775001	G G	GGGGCAGG others(211): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGG AGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGAAACGGGCAGGGAGG AGAGAGGGGCAGGGAGGAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	204	0.0049	218	c.978 others(235): Show c.978-2664_978-2663insGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAG AAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNIP4_chr4_20723606_21953772	21519596	A A	ATATACAC others(211): Show ATATACACATGTGTGTATGTGTATGTGTATATACACATGTGTGTATGTGT ATGTGTATATACACATGTGTGTATGTGTATGTGTATATACACATGTGTGT ATGTGTATGTGTATATACACATGTGTGTATGTGTATGTGTATATACACAT GTGTGTATGTGTATGTGTATATACACATGTGTGTATGTGTATGTGTATAT ACACATGTGTGTATGTGTG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0078 a0001c0001t0006g0078	1	80	0.0125	218	c.61+ others(237): Show c.61+428974_61+428975insCACACATACACACATGTGTATATACA CATACACATACACACATGTGTATATACACATACACATACACACATGTGTA TATACACATACACATACACACATGTGTATATACACATACACATACACACA TGTGTATATACACATACACATACACACATGTGTATATACACATACACATA CACACATGTGTATATACACATACACATACACACATGTGTATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCAAC others(211): Show CCCCCAACCACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACC ACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGAAAG ATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCCTCTCCACCC CCCAACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCA CCCGAAAGATCCCTCTCCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0390 a0001c0001t0123g0390	1	398	0.0025	218	c.64+ others(235): Show c.64+11864_64+11865insTGGAGAGGGATCTTTCGGGTGAGTGGTG ATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGGAGA GGGATCTTTCGGGTGAGTGGTGGGGGGGGATGGGGAGGGATCTTTCGGGT GAGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGTGATGGC GGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTGGTTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45228824	C C	CACCACCA others(211): Show CACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCTACCACCACTCAC CCGAAAGATCCCTCCCCATCCCCCCCACCACTCACCCGAAAGATCCCTCT CCACCCCCCAACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCAC CACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGAAA GATCCCTCTTCACCCCCCA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0146 a0001c0001t0064g0146	1	398	0.0025	218	c.64+ others(235): Show c.64+11815_64+11816insTGGGGGGTGAAGAGGGATCTTTCGGGTG AGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGTGATGGCG GGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGGAGAGGGATC TTTCGGGTGAGTGGTGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGT GGTAGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGT	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF1A_chr2_240708767_240825219	240779075	C C	CAGTTCCA others(211): Show CAGTTCCACACTCAGTTCCTCACTCACTTCCTCACTCAGTTCCTCATAGT TCCACACTCAGTTCCTCACAGTTCCACACAGTTCCACACTCAGTTCCACA CTCAGTCCCTCACTCAGTTCCACACTCAGTTCCTCACAGTTCCACACTCA GTTCCACACTCAGTCCCTCACTCAGTTCCACACTCAGTTCCTCACTCACT TCCTCACTCAGTTCCTCAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0017 a0001c0007t0017	a0001c0007t0017g0182 a0001c0007t0017g0183 a0001c0007t0017g0182 a0001c0007t0017g0183	2	330	0.0061	218	c.882 others(235): Show c.882+3297_883-3150dupATGAGGAACTGAGTGAGGAAGTGAGTGA GGAACTGAGTGTGGAACTGAGTGAGGGACTGAGTGTGGAACTGAGTGTGG AACTGTGAGGAACTGAGTGTGGAACTGAGTGAGGGACTGAGTGTGGAACT GAGTGTGGAACTGTGTGGAACTGTGAGGAACTGAGTGTGGAACTATGAGG AACTGAGTGAGGAAGTGAGTGAGGAACTGAGTGTGGAACT	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240780810	A A	ACACACAC others(211): Show ACACACACACACAGCTCCACACACACACACACACAGCTCCACACACACAC ACAGCTCCACACACACACAGCTCCACACACACACACACACAGCTCCACAC ACACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAG CTCCACACACACACACACAGCTCCACACACACACACACAGCTCCACACAC ACACACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0156 a0001c0004t0005g0156	1	330	0.0030	218	c.882 others(235): Show c.882+1779_882+1780insGAGCTGTGTGTGTGTGTGTGTGTGTGGA GCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTG TGGAGCTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF25_chr6_167992671_168050091	167997140	G G	GCGGGGGA others(211): Show GCGGGGGAATCTGCAGAGATGGGGTCGGGGAATCTGCAGAGATAGGGTCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGG GAATCTGCAGAGATAGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0308 a0001c0001t0002g0308	1	375	0.0027	218	c.-23 others(229): Show c.-2329_-2328insCGGGGGAATCTGCAGAGATGGGGTCGGGGAATCT GCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCA GAGGTGGGGGCGGGGGAATCTGCAGAGATAGGGT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		530		chr6	TogoVar
LAIR1_chr19_54346384_54369931	54349132	A A	ATGGAGGG others(211): Show ATGGAGGGAGGACACAGATCCTGAGGATGGATGGAGGGAGGAAACAGATC CTGAGGGTGGATGGATGGATGGAGGACACAGATCCTGAGGGTGGATGGAT GGAGGGAGGACACAGATCCTGAGGGTGGATGGAGGGAGGACACAGATCCT GAGGATGGATGAAAGGAGGACACAGATCCTGAGGGTGGATGGAGGGAGGA CACAGATCCTGAGGATGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(118): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG03017.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18944.hp2 NA18947.hp2 NA18953.hp2 NA18957.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19078.hp1 NA19088.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0008 a0009 a0012 a0015	a0001c0001 a0001c0003 a0002c0002 others(6): Show a0001c0001 a0001c0003 a0002c0002 a0002c0012 a0006c0010 a0008c0013 a0009c0014 a0012c0018 a0015c0017	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0032 a0001c0001t0038 a0001c0001t0047 a0001c0001t0054 a0001c0001t0062 a0001c0001t0066 a0001c0003t0025 a0002c0002t0017 a0002c0002t0044 a0002c0012t0002 a0006c0010t0002 a0008c0013t0052 a0009c0014t0002 a0012c0018t0011 a0015c0017t0002	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0015 others(44): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0043 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0151 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0186 a0001c0001t0002g0196 a0001c0001t0003g0004 a0001c0001t0011g0086 a0001c0001t0011g0096 a0001c0001t0011g0097 a0001c0001t0011g0156 a0001c0001t0032g0068 a0001c0001t0038g0154 a0001c0001t0047g0094 a0001c0001t0054g0073 a0001c0001t0062g0189 a0001c0001t0066g0137 a0001c0003t0025g0115 a0001c0003t0025g0173 a0002c0002t0017g0053 a0002c0002t0017g0175 a0002c0002t0044g0106 a0002c0012t0002g0167 a0006c0010t0002g0067 a0006c0010t0002g0202 a0008c0013t0052g0084 a0009c0014t0002g0033 a0012c0018t0011g0093 a0015c0017t0002g0088	121	462	0.2619	218	c.61 others(229): Show c.6135_*6136insCGCATCCTCAGGATCTGTGTCCTCCCTCCATCCA CCCTCAGGATCTGTGTCCTCCTTTCATCCATCCTCAGGATCTGTGTCCTC CCTCCATCCACCCTCAGGATCTGTGTCCTCCCTCCATCCATCCACCCTCA GGATCTGTGTCCTCCATCCATCCATCCACCCTCAGGATCTGTTTCCTCCC TCCATCCATCCTCAGGATCTGTGTCCTCCCTCCA	LAIR1	ENSG00000167613.16	transcript	ENST00000391742.7	protein_coding		2251		chr19	TogoVar
LAP3_chr4_17572198_17612970	17580184	A A	ATGTGTAT others(211): Show ATGTGTATATATATATATATATATATATATATATATATATATGTGTATAT ATATATATATATATATATATATATATATATGTGTATATATATATATATAT ATATATATATATATACACATATACATATATATATATATACACACACATAT ACATATATATATATATACACACTATATATATATATATATATATATATATA TATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	300	0.0033	218	c.218 others(233): Show c.218+246_218+247insGTGTATATATATATATATATATATATATAT ATATATATATGTGTATATATATATATATATATATATATATATATATATGT GTATATATATATATATATATATATATATATATACACATATACATATATAT ATATATACACACACATATACATATATATATATATACACACTATATATATA TATATATATATATATATATATATATATATATATGTATT	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
LHFPL3_chr7_104323603_104913561	104833044	T T	TATAATAG others(211): Show TATAATAGATATATTATATATATATAATATATAATAGATATATTATAGAT ATATTATATATAATAGATATATTATATATATTATATATAATAGATATATT ATATATATATTATATATAATAGATATATTATATATATTATATATAATAGA TATATTATATATATATTATATATAATAGATATATTATATATATATTATAT ATAATAGATATATATTATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	86	0.0116	218	c.683 others(237): Show c.683-73143_683-73142insATAATAGATATATTATATATATATAA TATATAATAGATATATTATAGATATATTATATATAATAGATATATTATAT ATATTATATATAATAGATATATTATATATATATTATATATAATAGATATA TTATATATATTATATATAATAGATATATTATATATATATTATATATAATA GATATATTATATATATATTATATATAATAGATATATATTATA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104833044	T T	TATATATA others(211): Show TATATATAATAGATATATTATAGATATATTATATATAATAGATATATTAT ATATATTATATATAATAGATATATTATATATATATATATATAATAGATAT ATTATATATATTATATATAATAGATATATTATATATATTATATATAATAG ATATATTATATATATATTATATATAATAGATATATTATATATATATTATA TATATAGATATATATTATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	86	0.0116	218	c.683 others(237): Show c.683-73143_683-73142insATATATAATAGATATATTATAGATAT ATTATATATAATAGATATATTATATATATTATATATAATAGATATATTAT ATATATATATATATAATAGATATATTATATATATTATATATAATAGATAT ATTATATATATTATATATAATAGATATATTATATATATATTATATATAAT AGATATATTATATATATATTATATATATAGATATATATTATA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LOC400499_chr16_11367015_11532247	11494117	G G	GGGGGCGG others(211): Show GGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGG CAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTG GGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGG CAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTG GGGGGCGGGGCAGTGGCGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01167.hp2 HG02300.hp2 others(1): Show HG01081.hp2 HG01167.hp2 HG02300.hp2 HG02622.hp2	a0013 a0059 a0112 others(1): Show a0013 a0059 a0112 a0124	a0013c0117 a0059c0110 a0112c0180 others(1): Show a0013c0117 a0059c0110 a0112c0180 a0124c0186	a0013c0117t0001 a0059c0110t0003 a0112c0180t0005 others(1): Show a0013c0117t0001 a0059c0110t0003 a0112c0180t0005 a0124c0186t0005	a0013c0117t0001g0174 a0059c0110t0003g0068 a0112c0180t0005g0148 others(1): Show a0013c0117t0001g0174 a0059c0110t0003g0068 a0112c0180t0005g0148 a0124c0186t0005g0044	4	310	0.0129	218	c.143 others(235): Show c.1432-322_1432-321insACGCCACTGCCCCGCCCCCCACGCCACT GCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCC CCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACT GCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCC CCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCC	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LUC7L_chr16_183990_234449	186221	G G	GGAGGAAC others(211): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGAGGAA CAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	350	0.0029	218	c.29 others(229): Show c.2976_*2977insTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCG CTGTTCCTCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2768		chr16	TogoVar
MAD1L1_chr7_1810795_2237945	1929944	C C	CACTGCCA others(211): Show CACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCC GTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCG CCCCGTCCCCACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCC CCTCACCCCGTCCCCACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCA CGTCCCCTCGCCCCGTCCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	264	0.0038	218	c.180 others(237): Show c.1807+6742_1807+6743insTGGACGGGGCGAGGGGACGTGGCAGT GGGGGATGGGGCGAGGGGACGTGGCAGTGGGGACGGGGTGAGGGGACGTG GCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGG ACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGA GGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGT	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACAA others(211): Show TGCCACAACCCCTCATCCCGTCCCCTACTGCCACATCCCACCACCACGTC CACACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCATC CCGTCCCCACTGCCACAACCCCTCATCCCGTCCCCTACTGCCACATCCCA CCACCACGTCCACACTGCCATGTCCCCTCGCCCCATCCCCCTGCCACGTC CGCTTACCCCATACCCACC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03927.hp2 HG01433.hp2 HG03927.hp2	a0002 a0002	a0002c0005 a0002c0009 a0002c0005 a0002c0009	a0002c0005t0001 a0002c0009t0001 a0002c0005t0001 a0002c0009t0001	a0002c0005t0001g0104 a0002c0009t0001g0096 a0002c0005t0001g0104 a0002c0009t0001g0096	2	264	0.0076	218	c.180 others(237): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGACGGGATGAGG GGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGTGGACGTGG TGGTGGGATGTGGCAGTAGGGGACGGGATGAGGGGTTGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MADCAM1_chr19_491486_510343	496853	G G	GGGGGCGC others(211): Show GGGGGCGCAGGAGAGAGCAGGGGGCGCAGGAGAGAGGAGGGGGCGCGGGA GAGGGGAGGGGGCGCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGGG CGCGGTGAGCGGGGAGGGGACGCGGGAGAGAGAAGGGAGTTAGGAGGGGG CTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGGGGCTCAGGAGAGAGG AGGGACGCAGGAGAGAGGA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	364	0.0028	218	c.52+ others(231): Show c.52+318_52+319insCAGGGGGCGCAGGAGAGAGGAGGGGGCGCGGG AGAGGGGAGGGGGCGCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGG GCGCGGTGAGCGGGGAGGGGACGCGGGAGAGAGAAGGGAGTTAGGAGGGG GCTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGGGGCTCAGGAGAGAG GAGGGACGCAGGAGAGAGGAGGGGCGCAGGAGAGAG	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAEA_chr4_1284891_1345137	1317118	T T	TCCCACAC others(211): Show TCCCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCAC ACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCAC ACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCAC CCGCAGGCCCACCCCAGCC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	388	0.0026	218	c.456 others(235): Show c.456+1538_456+1539insCCAGGCCCACCCCGGCCCCCACACTCCA CACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGC CCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCA CACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar

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