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
LMF1_chr16_848634_975984	858589	G G	GAGTGGTG others(202): Show GAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGT GGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGGGTGTGCAGTGGT GTCACGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCT CGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGG ATGGGTGTGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01243.hp1 HG03195.hp1 HG00733.hp1 HG01243.hp1 HG03195.hp1	a0007 a0020 a0007 a0020	a0007c0028 a0020c0040 a0007c0028 a0020c0040	a0007c0028t0004 a0020c0040t0004 a0007c0028t0004 a0020c0040t0004	a0007c0028t0004g0017 a0007c0028t0004g0265 a0020c0040t0004g0270 a0007c0028t0004g0017 a0007c0028t0004g0265 a0020c0040t0004g0270	3	180	0.0167	209	c.153 others(228): Show c.1530-3884_1530-3883insGCACACCCATCCCGTGACACCACGCA CACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACC CATCCCGAGACACCACGCACACCCATCCCGTGACACCACTGCACACCCAT CCCGTGACACCACGCACACCCATCCCGAGACACCACTCACACCCATCCCG AGACACCACTCACACCCATCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859762	G G	GGTGTGAG others(202): Show GGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGTTG TGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGCATGGGTGTGC AGTGGTGTCTCGGCATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGT CACGGGATGC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	285	0.0035	209	c.153 others(228): Show c.1530-5057_1530-5056insGCATCCCGTGACACCACTCACACCCA TCCCGTGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCC GAGACACCACTCACACCCATGCCGAGACACCACTGCACACCCATGCCGAG ACACCACTCACACCCATCCCGAGACACCACTGCACAACCATCCCGAGACA CCACTCACACCCATCCCGTGACACCACTCACAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(202): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	378	0.0026	209	c.40 others(220): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAA GAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAG GAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAG GAAAGAAAGAAAGAAAGAAAGTTAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MAP2K2_chr19_4085321_4129122	4122247	G G	GACCCTCC others(202): Show GACCCTCCCACCCCATCTCTCCCCACAGGGACCCCCTCACCCCATCTCTC CCCCACAGGGACCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCCCAC CCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGG ACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTC CCCCATAGGA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	236	0.0042	209	c.92+ others(224): Show c.92+1536_92+1537insTCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGG GTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGG GAGAGATGGGGTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGAGGGGGT CCCTGTGGGGAGAGATGGGGTGGGAGGGT	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP3K13_chr3_185358136_185494094	185453934	G G	GATATATA others(202): Show GATATATATGTGATGATACATATATATGAGATATATATGTGATACATATA TATGAGATATATATGTGATACATATATATGAGATATATATGTGATACATA TATATGAGATATATATGATACATATATATGAGATATATATATGATACATA TATATGAGATATATATGATACATATATATGAGATATATATATGATACATA TATATGAGAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	159	0.0063	209	c.127 others(228): Show c.1278+2548_1278+2549insTGATGATACATATATATGAGATATAT ATGTGATACATATATATGAGATATATATGTGATACATATATATGAGATAT ATATGTGATACATATATATGAGATATATATGATACATATATATGAGATAT ATATATGATACATATATATGAGATATATATGATACATATATATGAGATAT ATATATGATACATATATATGAGATATATATATG	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(202): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGG GGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGG GAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGG GGGGAGAGGG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	87	0.0115	209	c.525 others(226): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCC CTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCC CCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTCCCCCC TCCCCCCTCTCCCCCTCTCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19477974	A A	AGAGAGGG others(202): Show AGAGAGGGAGGGAGGGGTGGGGAGAGAGAGAGAGAGGGAGGGAGGGATGG GGGAGAGAGAGGGGAGAGGGGAGGGAGAGGGGGGAGAGGGAGGAGAGAGG GGGGAGAGGGGGAGAGAGGGGGGAGATGGGGGAGAGGGGGGAGATGGGGG AGAGGGGGAGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGAGGGGGAG AGGGGGAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0052 a0002c0003t0007g0052	1	105	0.0095	209	c.525 others(226): Show c.525+8507_525+8508insCTCTCCCCCTCTCCCCCTCTCCCCCTCT CCCCCCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCATCTCCCCCCTCT CCCCCATCTCCCCCCTCTCTCCCCCTCTCCCCCCTCTCTCCTCCCTCTCC CCCCTCTCCCTCCCCTCTCCCCTCTCTCTCCCCCATCCCTCCCTCCCTCT CTCTCTCTCTCCCCACCCCTCCCTCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MBD3L3_chr19_7051207_7063676	7061721	T T	TTATATAA others(202): Show TTATATAATTAATATATATAATTATATATAATATAATTATATAATATATA ATTTATATATAATATAATTATATAATATATAATTTATATATTATATAATT ATATAATATATAATTTATATATAATATAATTATATAATATATAATTTATA TATAATATAATTATATAATATATAATTTATATATAATATAATTATATAAT ATATAATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18976.hp1 NA18976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	286	0.0035	209	c.-31 others(220): Show c.-3117_-3116insTAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATAATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATTATA TATAATTATATATATTAATTATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3046		chr19	TogoVar
MEAK7_chr16_84471355_84509659	84479390	G G	GCTAATGC others(202): Show GCTAATGCCAGCGGAATTCCCTAATGCCAGCGGAATTCCCTAATGCCAGC GGAATTCCCTAATGCCAGCGGAATTCCCTAATGCCAGCGGAATTCCCTAA TGCCAGCGGAATTCCCTAATGCCAGCGGAATTCCCTAATGCCAGCGGAAT TCCCTAATGCCAGCGGAATTCCCTAATGCCAGCGGAATTCCCTAATGCCA GCGGAATTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0214 a0001c0002t0214	a0001c0002t0214g0290 a0001c0002t0214g0290	1	50	0.0200	209	c.52 others(218): Show c.522_*523insGGAATTCCGCTGGCATTAGGGAATTCCGCTGGCATT AGGGAATTCCGCTGGCATTAGGGAATTCCGCTGGCATTAGGGAATTCCGC TGGCATTAGGGAATTCCGCTGGCATTAGGGAATTCCGCTGGCATTAGGGA ATTCCGCTGGCATTAGGGAATTCCGCTGGCATTAGGGAATTCCGCTGGCA TTAGGGAATTCCGCTGGCATTAG	MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding	8/8	522		chr16	TogoVar
MPI_chr15_74885042_74907219	74894039	A A	AGTGTGTG others(202): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTTTTCTGAGCCAGGGTCTCTTTCTGTTGCCCCAGGCTG GAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTC AAGCAATTCTCCTGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTT CAGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19006.hp2 NA19002.hp2 NA19006.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0007 a0001c0003t0005g0007	2	33	0.0606	209	c.670 others(224): Show c.670+781_670+782insTTTCTGAGCCAGGGTCTCTTTCTGTTGCCC CAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCC CGGGTTCAAGCAATTCTCCTGCATTATTTATTTGACCCAAGCATATTTTT TTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGT	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
MSLN_chr16_755734_773862	767864	A A	AGGGGGCA others(202): Show AGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCGC GTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGG GGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTG GGGGGGTGTGGAGGGGGGCGCATGGGGGTGCGTGGGGGGGCGCGTGGAGG GGGGGCGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0079 a0002c0003t0002g0079	1	332	0.0030	209	c.159 others(226): Show c.1596+396_1596+397insGGGCACGTGGAGGGGTCGCGTGGAGGAG GGGCGCGTGGAGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTG GAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGC GCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCATGGGGGTGC GTGGGGGGGCGCGTGGAGGGGGGGCGTGTGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTA1_chr14_105414827_105475729	105455980	T T	TGTGGGGA others(202): Show TGTGGGGAGGCCACTGTGCTGAGTGAGGCCTGTGGGTCTGAGCGTGGGGA GGCCGCTGTGCTGGGGCCTGGCCTGTGGGTCTGAGTGTGAGGAGGCCTCT GTGCTGGGGCCTGGCCTGTGGGTCTGAGCGTGGGGAGGCCGCTGTGCTGA GGCCTGTGGGTCTGAGCGTGGGGAGGCCTCTGTGCTGAGGCCTGGCCTGT GGGTCTGAGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0052 a0003c0008t0001g0052	1	302	0.0033	209	c.550 others(226): Show c.550+1674_550+1675insGGAGGCCACTGTGCTGAGTGAGGCCTGT GGGTCTGAGCGTGGGGAGGCCGCTGTGCTGGGGCCTGGCCTGTGGGTCTG AGTGTGAGGAGGCCTCTGTGCTGGGGCCTGGCCTGTGGGTCTGAGCGTGG GGAGGCCGCTGTGCTGAGGCCTGTGGGTCTGAGCGTGGGGAGGCCTCTGT GCTGAGGCCTGGCCTGTGGGTCTGAGCGTGG	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
MYT1_chr20_64159452_64247253	64174324	T T	TCTCCTCC others(202): Show TCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCCATTTTCCCTCCCTG ACTTCTCCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTG ACTTCTCCTCCTGCAGCATCCTTCCCTGTAGTTGTGTCCATTTCCCCTCC CTGACTTCTCCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCC CTGACTTCTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	197	0.0051	209	c.-99 others(226): Show c.-99+9590_-99+9591insCCTGCAGCATCTTTCCTTGTAGTTGTGT CCATTTTCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTCCTAGTTGTGT CCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCCTTCCCTGTAGTTG TGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTCCTAGTTG TGTCCATTTCCCCTCCCTGACTTCTCCTCCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64212173	G G	GGGTGGGG others(202): Show GGGTGGGGGCCGTGGTGGGGGGCCGTGGTGGGGGCCGTGGTGGGGGGCCA GGGTGGGGGCCGTGGTGGGGGGCCGTGGTGGGGGCCGTGGTGGGGGGCCA GGGTGGGGGCCAGGGTGGGGGCCGTGGTGGGGGCCGTGGTGGGGGCCGTG GTGGGGGCCGTGGTGGGGGGCCAGGGTGGGGGCCAGGGTGGGGGCCGTGG TGGGGGCCAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02735.hp2 HG03239.hp2 others(1): Show HG02602.hp2 HG02735.hp2 HG03239.hp2 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0003 a0001c0005t0001 a0001c0005t0003	a0001c0005t0001g0030 a0001c0005t0003g0029 a0001c0005t0003g0103 others(1): Show a0001c0005t0001g0030 a0001c0005t0003g0029 a0001c0005t0003g0103 a0001c0005t0003g0198	4	222	0.0180	209	c.151 others(224): Show c.1517+55_1517+56insGCCGTGGTGGGGGCCGTGGTGGGGGGCCAG GGTGGGGGCCGTGGTGGGGGGCCGTGGTGGGGGCCGTGGTGGGGGGCCAG GGTGGGGGCCAGGGTGGGGGCCGTGGTGGGGGCCGTGGTGGGGGCCGTGG TGGGGGCCGTGGTGGGGGGCCAGGGTGGGGGCCAGGGTGGGGGCCGTGGT GGGGGCCATGGTGGGGGCCGTGGTGGGGG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NALCN_chr13_101048776_101421508	101391820	T T	TAAAAAAT others(202): Show TAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03098.hp2 HG01192.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0003 a0001c0001t0001 a0001c0006t0003	a0001c0001t0001g0006 a0001c0006t0003g0009 a0001c0001t0001g0006 a0001c0006t0003g0009	2	160	0.0125	209	c.291 others(226): Show c.291+3362_291+3363insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCGCGCCCGGCTAATTTTTTGTATTTTTT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	3/43			chr13	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCCTTAC others(202): Show TCCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTC CCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCCCCCTTACCCA CTACTGGGTCCCTCTGCCCTCCCTTACCTACCTTGTGTCCCTAGGCCCTC CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCC CTCCGCCCCC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18998.hp2 NA18957.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0305 a0001c0001t0001g0306	2	168	0.0119	209	c.147 others(228): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGTTGTGGGT AAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACAC AAGGTAGGTAAGGGAGGGCAGAGGGACCCAGTAGTGGGTAAGGGGGGGCG GAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCCTAGGGACACAAGGTAGGTAAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NEGR1_chr1_71390943_72287539	71793264	A A	ATATATAT others(202): Show ATATATATATATATATATACACATAATATATATATACACACACACATATA TATACACATATATATTATATATACATATATAATATATTATATATACATAT ATACATATATATTATATATACATATATACATATATTATATATACATATAT ACATATATTATATATACATATATATACATATATATGTATGTGTGTGTATA TGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03195.hp1 NA20300.hp2 HG03041.hp1 HG03195.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0009 a0001c0002t0001 a0001c0002t0009	a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0009g0005 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0009g0005	3	4	0.7500	209	c.410 others(228): Show c.410-16968_410-16967insCACACACACATATACACACACATACA TATATATGTATATATATGTATATATAATATATGTATATATGTATATATAA TATATGTATATATGTATATATAATATATATGTATATATGTATATATAATA TATTATATATGTATATATAATATATATGTGTATATATATGTGTGTGTGTA TATATATATTATGTGTATATATATATATATATA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(202): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGAC AGAAAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAGAAAGACAG AAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAA AGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0209	1	250	0.0040	209	c.319 others(224): Show c.319+282_319+283insCTTTCTTTCTTTCTGTCTTTCTTTCTGTCT TTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTGTCTTTCTGTCTTTCTTTCTTTCTTTCT GTCTTTCTTTCTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NME8_chr7_37843597_37905397	37848231	A A	AAAGAAGA others(202): Show AAAGAAGAAGAAGAAAAGAAGAAGAAAAGAAGAAGAAAAGAAGAAGAAGA AGAAAAGAAGAAGGAAGACGAAGAAGAAGAGGAAGAGGAAGAGAGAAGAA GAAGAAGAAGAAGAGGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGA AGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAG GAGAAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03486.hp2 HG03041.hp2 HG03486.hp2	a0003 a0003	a0003c0015 a0003c0023 a0003c0015 a0003c0023	a0003c0015t0001 a0003c0023t0001 a0003c0015t0001 a0003c0023t0001	a0003c0015t0001g0259 a0003c0023t0001g0254 a0003c0015t0001g0259 a0003c0023t0001g0254	2	386	0.0052	209	c.-73 others(218): Show c.-738_-737insAAGAAGAAGAAGAAAAGAAGAAGAAAAGAAGAAGAA AAGAAGAAGAAGAAGAAAAGAAGAAGGAAGACGAAGAAGAAGAGGAAGAG GAAGAGAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAGGAAGAGGAAG AGGAAGAGGAAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAA GAAGGAGAAGAAGGAGAAGAAGG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		365		chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136535645	T T	TCCCAGGG others(202): Show TCCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTC AGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACT CAGGATCCCTCCTGGGGCAATGGGTGCATGGTGGGTGGGGGGGAGCACTC AGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTC AGGATCCCTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0004 a0001c0041t0004	a0001c0041t0004g0036 a0001c0041t0004g0036	1	124	0.0081	209	c.140 others(226): Show c.140+8378_140+8379insGAGGGATCCTGAGTGCTCCCCCCCACCC ACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCC ACCATGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCTCTCCACC CACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCAC CCACTCCCACCCTGCACCCATTGCCCCTGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCTCCCCA others(202): Show TCTCCCCAGAGTGGATTTCTCTTCTCTTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTT CCCCTTCCCTCTCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCC CCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp1 HG02622.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0119 a0001c0001t0008g0004 a0001c0001t0008g0119	2	31	0.0645	209	c.433 others(226): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAAGAGAAGAGAAATCCACTCTGGGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCTCCCCA others(202): Show TCTCCCCAGAGTGGATTTCTCTTCTCTTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTT CCCCTTCCCTCTCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCC CCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	30	0.0333	209	c.433 others(226): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAAGAGAAGAGAAATCCACTCTGGGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	948881	C C	CCTGCCTC others(202): Show CCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCCTGCCTCCTCC TCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCC TCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCC CCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTC CTCTCCCCGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	238	0.0042	209	c.360 others(228): Show c.360+30437_360+30438insACGGGGAGAGGAGGAGGCCACGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCC GGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGG GAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR11H4_chr14_20234286_20249349	20237790	A A	ACTATATA others(202): Show ACTATATAGTACATATAGTATATATAGCATATATAGTATATAGTACATAT AGTATATATAGTATATATAGTATATAGTATATATTTTATAGTATATATAG TATATATACTATATAGTATATATTATATAGTATATATACTATAAAGTACA TAATTTATATATTACATATAATACATAATATATATTTATATATTATATTA AATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	279	0.0036	209	c.-15 others(220): Show c.-1553_-1552insCTATATAGTACATATAGTATATATAGCATATATA GTATATAGTACATATAGTATATATAGTATATATAGTATATAGTATATATT TTATAGTATATATAGTATATATACTATATAGTATATATTATATAGTATAT ATACTATAAAGTACATAATTTATATATTACATATAATACATAATATATAT TTATATATTATATTAAATATATATT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1495		chr14	TogoVar
OR2T12_chr1_248285139_248308424	248306452	C C	CCCCTGAG others(202): Show CCCCTGAGGACTGGAGCCCCCAGAGGACTGGAGCCGCCTGAGGACTGGAG CCGCCCTGAGGACAGGAGCCGCCCTGAGGACAGGAGCCGCCTGAGGACTG GAGCCGCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCCCCTGAGGA CTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCCCCTGAGG ACTGGAGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(18): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00642.hp2 HG01169.hp2 HG01358.hp1 HG01433.hp1 HG02165.hp1 HG02559.hp1 HG02698.hp1 HG03490.hp1 NA18955.hp2 NA18956.hp1 NA18984.hp1 NA18992.hp1 NA19000.hp2 NA19007.hp1 NA19068.hp1 NA19078.hp2 NA19085.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0032 a0001c0008t0001 a0001c0001t0001 a0001c0001t0032 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0091 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0032g0096 a0001c0008t0001g0006	21	283	0.0742	209	c.-32 others(220): Show c.-3297_-3296insCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGG CGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAG GGCGGCTCCAGTCCTCAGGGCGGCTCCAGTCCTCAGGCGGCTCCTGTCCT CAGGGCGGCTCCTGTCCTCAGGGCGGCTCCAGTCCTCAGGCGGCTCCAGT CCTCTGGGGGCTCCAGTCCTCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3029		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306504	G G	GCCCTGAG others(202): Show GCCCTGAGGACAGGAGCCGCCCTGAGGACAGGAGCCGCCTGAGGACTGGA GCCGCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCGCCCTGAGGAC TGGAGCCCCCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGA CTGGAGCCCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCGCCTGAG GACTGGAACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0005 a0008c0010t0005	a0008c0010t0005g0021 a0008c0010t0005g0021	1	272	0.0037	209	c.-33 others(220): Show c.-3349_-3348insGGTTCCAGTCCTCAGGCGGCTCCAGTCCTCAGGG CGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAG GCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGGCGGCTCCAGTCCTC AGGGCGGCTCCAGTCCTCAGGGCGGCTCCAGTCCTCAGGCGGCTCCTGTC CTCAGGGCGGCTCCTGTCCTCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3081		chr1	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATAA others(202): Show TTATATAATATATATTATATATATTATATATAATATATATTATATATATT ATATATAATATATATTATATATAATATATATAATATATATTATATATAAT ATATATTATATATAATATATATAATATATATTATATATATTATATATTAT ATATAATATATATAATATATATTATATATATTATATATAATATATATAAT ATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03130.hp2 HG03195.hp1 HG02886.hp2 HG03130.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	342	0.0088	209	c.-23 others(220): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATATTATATATAATATATAATATATATAATATA TATTATATATATTATATATAATATATATTATATATAATATATATTATATA TATTATATATAATATATATTATATATAATATATATAATATATATTATATA TAATATATATAATATATATTATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(202): Show TTATATTATATATATTATATATATTATATATATAATATATATTATATATA TTATATATAATATATATTATATATAATATATATAATATATATTATATATA ATATATATTATATATAATATATATAATATATATTATATATAATATATTAT ATATAATATATATAATATATATTATATATATTATATATAATATATATAAT ATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	340	0.0029	209	c.-23 others(220): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATATTATATATAATATATTATATATAATATATA TTATATATATTATATATAATATATATTATATATAATATATATTATATATA TTATATATAATATATATTATATATAATATATATAATATATATTATATATA TAATATATATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(202): Show TTATATTATATATATTATATATATTATATATATAATATATATTATATATA TTATATATAATATATATTATATATAATATATATTATATATATTATATATA ATATATATTATATATAATATATATAATATATATTATATATATTATATATT ATATATAATATATATAATATATATTATATATATTATATATAATATATATA ATATATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18998.hp2 NA19070.hp2 NA18989.hp1 NA18998.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	342	0.0088	209	c.-23 others(220): Show c.-2357_-2356insTAATATATATTATATATATTATATATAATATATA TAATATATATTATATATATTATATATAATATATAATATATATAATATATA TTATATATATTATATATAATATATATTATATATAATATATATAATATATA TTATATATAATATATATTATATATAATATATATAATATATATTATATATA TAATATATATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(202): Show TTATATTATATATATTATATATATTATATTTAATATATATTATATATATT ATATATAATATATATTATATATAATATATATAATATATATTATATATAAT ATATATTATATATAATATATATAATATATATTATATATATTATATATTAT ATATAATATATATAATATATATTATATATATTATATATAATATATATAAT ATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	340	0.0029	209	c.-23 others(220): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATATTATATATAATATATAATATATATAATATA TATTATATATATTATATATAATATATATTATATATAATATATATTATATA TATTATATATAATATATATTATATATAATATATATAATATATATTAAATA TAATATATATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(202): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGA GGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGG GGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAG GGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	62	0.0161	209	c.155 others(226): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PCDHGA1_chr5_141325514_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0207 a0002c0003t0001g0207	1	244	0.0041	209	c.242 others(230): Show c.2421+74400_2421+74401insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	248	0.0040	209	c.242 others(230): Show c.2424+66110_2424+66111insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	246	0.0041	209	c.242 others(230): Show c.2424+61048_2424+61049insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA4_chr5_141350021_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	250	0.0040	209	c.251 others(230): Show c.2514+49884_2514+49885insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	268	0.0037	209	c.242 others(230): Show c.2421+40754_2421+40755insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0062 a0001c0004t0001g0062	1	268	0.0037	209	c.242 others(230): Show c.2424+30998_2424+30999insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA7_chr5_141377742_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	268	0.0037	209	c.242 others(230): Show c.2424+22182_2424+22183insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA7	ENSG00000253537.3	transcript	ENST00000518325.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA8_chr5_141387633_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	278	0.0036	209	c.242 others(230): Show c.2424+12268_2424+12269insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA8	ENSG00000253767.3	transcript	ENST00000398604.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA9_chr5_141397778_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0279 a0001c0005t0001g0279	1	278	0.0036	209	c.242 others(228): Show c.2424+2129_2424+2130insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA9	ENSG00000261934.3	transcript	ENST00000573521.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0160 a0001c0003t0001g0160	1	255	0.0039	209	c.240 others(230): Show c.2409+54836_2409+54837insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB2_chr5_141354994_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	264	0.0038	209	c.242 others(230): Show c.2421+44949_2421+44950insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB2	ENSG00000253910.3	transcript	ENST00000522605.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB3_chr5_141365242_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	272	0.0037	209	c.241 others(230): Show c.2415+34696_2415+34697insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB3	ENSG00000262209.3	transcript	ENST00000576222.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	271	0.0037	209	c.239 others(230): Show c.2397+17224_2397+17225insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB5_chr5_141392947_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0017 a0001c0001t0010g0017	1	276	0.0036	209	c.239 others(228): Show c.2397+6981_2397+6982insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB5	ENSG00000276547.2	transcript	ENST00000617380.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB6_chr5_141403021_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0134 a0002c0003t0001g0134	1	278	0.0036	209	c.-71 others(218): Show c.-712_-711insTTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATT	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding		529		chr5	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(202): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTC CCCTGCCCTCCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCC CACTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0102 a0001c0006t0001g0102	1	7	0.1429	209	c.-37 others(220): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGTGGGGAGGGGATG AGGGAGGGGGAGGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGG GATGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDCD6_chr5_266646_319974	318050	C C	CCTCCCCC others(202): Show CCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTC TCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCC TTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCAC CTCCCCCCTCACCTCCCCCCTACACCTCCCCCCATCTTTTACCTCCCTCC CACCCTGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0304 a0003c0005t0004g0304	1	352	0.0028	209	c.35 others(220): Show c.3535_*3536insCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCA CCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCC CTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTC CTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCCAT CTTTTACCTCCCTCCCACCCTGCAT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3077		chr5	TogoVar
PDIA2_chr16_278164_292215	285931	C C	CCCCAACC others(202): Show CCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCC AACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCA ACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACC CCGCGGTTCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0090 a0007c0007t0001g0090	1	376	0.0027	209	c.111 others(226): Show c.1119+240_1119+241insACCAACCCCGCGGTTCTCCCAACCCCGC GGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACC CCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCA ACCCCAACCCCGCGGTTCTCCCAACCCCAAC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285983	T T	TCCCAACC others(202): Show TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGG TTCTCCCAAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0080 a0007c0007t0001g0080	1	315	0.0032	209	c.111 others(226): Show c.1119+289_1119+290insAACCCCGCGGTTCTCCCAACCCCAACCC CAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCA ACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACC CCAACCCCGCGGTTCTCCCAACCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar

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