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
ATP11A_chr13_112685038_112892168	112863301	G G	GCAGTAAT others(587): Show GCAGTAATTCAGTGCGGCCCATGCAGCTTCCCAGCGGGGTCCGTCACCAC CTGCACAGTAATTCAGTGCGGCCCATGCAGCTTCCCAGCGGGGTCCATCA CCACCTGCGCAGTAATTCAGTGCGGCCCATGCAGCTTCCCAGCGGGGTCC ATCACCACCTGCGCAGTAATTCAGTGCAGGCCACGCAGCTTCCCAGCGGG ATCCATCACCACGTGCACAGTAATTGAGTGCAGCCCATGCAGCTTCCCAG CGGGGTCCATCACCACCTGTGCAGTAGTTCAGTGCGGCCCATGCAGCTTC CCAGCAGGGTCCATCACCACCTGCACAGTAATTCAGCGTAGCACATGCAG TTTCCCAGCGGGGTCCATCACCACCTGCACAGTAATTCAGTGCAGCCCAT GCAGCTTCCCAGCGGGGTCCATCACCACCTGCACAGTAATTCAGTGCAGC CCATGCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAGTAATTCAGTG CAAACCATGCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAGTAATTC AGTGCAGCCCATGCAGCTTCCCAGCGGGGTCCATCACCACCTGCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03453.hp1 HG02055.hp2 HG03453.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0214 a0001c0016t0004g0215 a0001c0016t0004g0214 a0001c0016t0004g0215	2	151	0.0132	594	c.299 others(611): Show c.2991+740_2991+741insGGCCCATGCAGCTTCCCAGCGGGGTCCG TCACCACCTGCACAGTAATTCAGTGCGGCCCATGCAGCTTCCCAGCGGGG TCCATCACCACCTGCGCAGTAATTCAGTGCGGCCCATGCAGCTTCCCAGC GGGGTCCATCACCACCTGCGCAGTAATTCAGTGCAGGCCACGCAGCTTCC CAGCGGGATCCATCACCACGTGCACAGTAATTGAGTGCAGCCCATGCAGC TTCCCAGCGGGGTCCATCACCACCTGTGCAGTAGTTCAGTGCGGCCCATG CAGCTTCCCAGCAGGGTCCATCACCACCTGCACAGTAATTCAGCGTAGCA CATGCAGTTTCCCAGCGGGGTCCATCACCACCTGCACAGTAATTCAGTGC AGCCCATGCAGCTTCCCAGCGGGGTCCATCACCACCTGCACAGTAATTCA GTGCAGCCCATGCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAGTAA TTCAGTGCAAACCATGCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCA GTAATTCAGTGCAGCCCATGCAGCTTCCCAGCGGGGTCCATCACCACCTG CACAGTAATTCAGTGC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(587): Show ATATATATATAGTTTATATATATATAGTTTATATATATATACTATATATA TAGTTTATATATACTATATATATAGTTTATATATATATACTATATATAGT TTATATATATATACTATATATAGTATATATATACTATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTTTATATATATATACTAT ATATATAGTTTATATATATACTATATATATAGTTTATATATATATAAACT ATATATATAGTTTATATATATATACTATATATATAGTATATATATATAAA CTATATATATAGTTTATATATATATAAACTATATATATAGTTTATATATA TATACTATATATATAGTATATATATATATAAACTATATATATAGTTTATA TATATATAAACTATATATATAGTTTATATATATATATACTATATATATAG TTTATATATATATATATACTATATATATAGTTTATATATATATATACTAT ATATATAGTTTATATATATATACTATATATATAGTTTATATATATATATA CTATATATATAGTTTATATATATATATACTATATATATAGTTTAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	164	0.0061	594	c.331 others(613): Show c.3314-1170_3314-1169insATAAACTATATATATAGTATATATAT ATATAAACTATATATATAGTATATATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATATATAAACTATATATATA GTATATATATATATATAAACTATATATATAGTATATATATATATAAACTA TATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATAT ATACTATATATATAGTATATATATATAAACTATATATATAGTTTATATAT ATATAAACTATATATATAGTTTATATATATATACTATATATATAGTATAT ATATATAAACTATATATATAGTTTATATATATATAAACTATATATATAGT ATATATATAAACTATATATATAGTATATATATATAAACTATATATATAGT ATATATATATAAACTATATATATAGTATATATATAGTATATATATACTAT ATATAGTATATATATATAAACTATATATAGTATATATATATAAACTATAT ATATAGTATATATAAACTATATATATAGTATATATATATAAACTATATAT ATATAAACTATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(587): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGG GGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGG GAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGG GGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGG GAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCA GTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGT GGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	8	0.1250	594	c.-70 others(603): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGA GGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAG GAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGG AAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAA GGGGGAAGGGGCAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGG GGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGA AGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C1QTNF12_chr1_1237453_1251722	1248971	G G	GCGAGGGA others(587): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG03688.hp1 HG00438.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	271	0.0074	594	c.-22 others(605): Show c.-2282_-2281insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2250		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(587): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGACAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	79	0.0127	594	c.-23 others(605): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGTCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(587): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00544.hp2 others(53): Show HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01258.hp1 HG01928.hp2 HG02004.hp1 HG02015.hp1 HG02074.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02738.hp2 HG03490.hp1 HG03669.hp1 HG03704.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18962.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18982.hp1 NA18983.hp1 NA18990.hp1 NA19004.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp2 NA19088.hp1 NA20805.hp2	a0001 a0007 a0012 a0001 a0007 a0012	a0001c0001 a0001c0019 a0007c0007 others(1): Show a0001c0001 a0001c0019 a0007c0007 a0012c0015	a0001c0001t0001 a0001c0001t0002 a0001c0019t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0019t0001 a0007c0007t0001 a0012c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0002g0008 a0001c0019t0001g0108 a0007c0007t0001g0023 a0012c0015t0001g0099	56	134	0.4179	594	c.-23 others(605): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(587): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGAGCAAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	79	0.0127	594	c.-23 others(605): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTTGCTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(587): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 NA18962.hp2 NA18971.hp1 others(5): Show HG01433.hp2 NA18962.hp2 NA18971.hp1 NA18995.hp2 NA19005.hp2 NA19064.hp1 NA19079.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0086	8	86	0.0930	594	c.-23 others(605): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGCTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(587): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAGCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	79	0.0127	594	c.-23 others(605): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGCTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGCTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(587): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02809.hp2 HG02818.hp2 others(6): Show HG02559.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG03471.hp1 HG03540.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	9	87	0.1034	594	c.-23 others(605): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGCTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGCTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(587): Show GCGAGGGAGGCTGGGCCTCCCACTCTGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGAAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	79	0.0127	594	c.-23 others(605): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTTCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCAGAGTGGGAGGCCCA GCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(587): Show GCGAGGGAGGCTGGGCCTCCCACTCTGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	81	0.0370	594	c.-23 others(605): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCAGAGTGGGAGGCCCA GCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249079	C C	CAGGGCAG others(587): Show CAGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCG CCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGC TGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGG CTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACAC GGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCC CTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTG GGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCT GGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGG GCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCT ACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGG CCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGG ACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	326	0.0031	594	c.-23 others(605): Show c.-2390_-2389insTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAG CCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGC GGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTG TCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCT CCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCC TCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGG AGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTC CCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCC CAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTC CCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAG TGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCC GGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCA GGGCTGCCCT	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2358		chr1	TogoVar
CCDC198_chr14_57464300_57498857	57498823	A A	ATATATAT others(587): Show ATATATATATAATATGGTATATATATGTGTGTGTGTGTGTATATGGTATA TATATATAATATGGTATATATATGTGTGTGTGTGTATATATGGTATATAT ATATAATATGGTATATATATGTGTGTGTGTGTGTATATGGTATATATATA ATATGGTATATATATGTGTGTGTGTGTGTATATGGTATATATATAATATG GTATATATATGTGTGTGTTTATATGGTATATATATATAATATGGTATATA TATGTGTGTGTATATGGTATATATATATAATATGGTATATATATGTGTGT GTGTGTATATATGGTATATATATATAATATGGTATATATATGTGTGTGTG TGTATATATGGTATATATATAAAATATGGTATATATAGTGTGTGTGTGTG TATATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTGTAT ATATGGTATATATATATAATGTGGTATATATATGTGTGTGTGTATATATG GTATATATATAATATGGTATATATATGTGTGTGTGTGTGTATATATGGTA TATATATATAATATGGTATATATATGTGTGTGTGTGTATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 NA19030.hp2 HG02572.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0114 a0001c0001t0001g0115	2	338	0.0059	594	c.-51 others(605): Show c.-5109_-5108insCCATATATACACACACACACATATATATACCATA TTATATATATATACCATATATACACACACACACACATATATATACCATAT TATATATATACCATATATACACACACACATATATATACCACATTATATAT ATATACCATATATACACACACACACATATATATACCATATTATATATATA TACCATATATACACACACACACACTATATATACCATATTTTATATATATA CCATATATACACACACACACATATATATACCATATTATATATATATACCA TATATACACACACACACATATATATACCATATTATATATATATACCATAT ACACACACATATATATACCATATTATATATATATACCATATAAACACACA CATATATATACCATATTATATATATACCATATACACACACACACACATAT ATATACCATATTATATATATACCATATACACACACACACACATATATATA CCATATTATATATATATACCATATATACACACACACACATATATATACCA TATTATATATATATACCATATACACACACACACACATATATATACCATAT TATATATATA	CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding		4967		chr14	TogoVar
CCDC6_chr10_59783747_59911556	59882384	G G	GGGGAGAA others(587): Show GGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGC CAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGC GGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAA GGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAA AGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCC GGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGG GGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA19055.hp2 HG03688.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0170 a0001c0003t0003g0161 a0001c0001t0002g0170 a0001c0003t0003g0161	2	222	0.0090	594	c.303 others(613): Show c.303+23737_303+23738insGCCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCT TTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTC TCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC CCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTG GCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTT TCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCT TTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCC TTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCT CCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGG CTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC88C_chr14_91266323_91422820	91293523	C C	CCCTCACC others(587): Show CCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCACCTGCCACGGCCCA CCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTG CCACAGCCCACCTTCCTGTCCCCTCGCCTGCCACAGCCCACCTTCCTGTC CCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCA CCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTG CCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCC CCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCA CCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTG CCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGTC CCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCA CCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCCGTCCTCACCTGCC ACGGTCCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0002 a0007c0017t0002	a0007c0017t0002g0029 a0007c0017t0002g0029	1	272	0.0037	594	c.411 others(611): Show c.4112+649_4112+650insATGGGAAGGTGAGCTGTGGCAGGTGAGG ATGGGAAGGTGGACCGTGGCAGGTGAGGACGGGAAGGTGGGCCGTGGCAG GTGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGG GCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGGC AGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGCAG GCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGG GCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGC AGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGCAG GCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGG GCTGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGAC AGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAG GCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGGCAGGAAGGTGG GCCGTGGCAGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDC42SE2_chr5_131259053_131399672	131278725	C C	CCCCCCCC others(587): Show CCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0006 a0001c0001t0038g0006	1	237	0.0042	594	c.-45 others(615): Show c.-455+14563_-455+14564insCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCCTCCCCCCTC CCCTCCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCTTCCCCTCCTCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDON_chr11_125951821_126067866	126065143	G G	GTGATAGT others(587): Show GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TGATAGTATTAAGAGGTGATGATAGTATTAAGAGGTGATGATAGTATTAA GAGGTGATGATAGTATTAAGAGGTGATGATAGTATTAAGAGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0053 a0002c0003t0053	a0002c0003t0053g0012 a0002c0003t0053g0012	1	329	0.0030	594	c.-26 others(605): Show c.-2627_-2626insTCACCTCTTAATACTATCATCACCTCTTAATACT ATCATCACCTCTTAATACTATCATCACCTCTTAATACTATCATCACCTCT TAATACTATCATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2278		chr11	TogoVar
CEP19_chr3_196701277_196717250	196703550	G G	GCAGCCCC others(587): Show GCAGCCCCAGGCAGCCATAATCAATTCCCATCCCCCGCCCCAGGCAGCCA TAATCAATTCCCATCCCCAGCCCCAGGCAGCCATAATCAATTCTCATCCC CAGCCCCAGGCAGCCATAATCAATTCCCATCCCCCGCCCCAGGCAGCCAT AATCAATTCCCATCCCCAGCCCCAGGCAGCCATAATCAATTCTCATCCCC AGCCCCAGGCAGCCATAATCAATTCCCATCCCCCGCCCCAGGCAGCCATA ATCAATTCCCATCCCCAGCCCCAGGCAGCCATAATCAATTCTCATCCCCA GCCCCAGGCAGCCATAATCAATTCCCATCCCCCGCCCCAGGCAGCCATAA TCAATTCCCATCCCCAGCCCCAGGCAGCCATAATCAATTCTCATCCCCAG CCCCAGGCAGCCATAATCAATTCCCATCCCCCGCCCCAGGCAGCCATAAT CAATTCCCATCCCCAGCCCCAGGCAGCCATAATCAATTCTCATCCCCAGC CCCAGGCAGCCATAATCAATTCCCATCCCCCGCCCCAGGCAGCCATAATC AATTCCCATCCCCAGCCCCAGGCAGCCATAATCAATTCTCATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA18948.hp2 NA18950.hp2 HG00438.hp2 NA18948.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	3	313	0.0096	594	c.40 others(605): Show c.4000_*4001insGGGATGAGAATTGATTATGGCTGCCTGGGGCTGG GGATGGGAATTGATTATGGCTGCCTGGGGCGGGGGATGGGAATTGATTAT GGCTGCCTGGGGCTGGGGATGAGAATTGATTATGGCTGCCTGGGGCTGGG GATGGGAATTGATTATGGCTGCCTGGGGCGGGGGATGGGAATTGATTATG GCTGCCTGGGGCTGGGGATGAGAATTGATTATGGCTGCCTGGGGCTGGGG ATGGGAATTGATTATGGCTGCCTGGGGCGGGGGATGGGAATTGATTATGG CTGCCTGGGGCTGGGGATGAGAATTGATTATGGCTGCCTGGGGCTGGGGA TGGGAATTGATTATGGCTGCCTGGGGCGGGGGATGGGAATTGATTATGGC TGCCTGGGGCTGGGGATGAGAATTGATTATGGCTGCCTGGGGCTGGGGAT GGGAATTGATTATGGCTGCCTGGGGCGGGGGATGGGAATTGATTATGGCT GCCTGGGGCTGGGGATGAGAATTGATTATGGCTGCCTGGGGCTGGGGATG GGAATTGATTATGGCTGCCTGGGGCGGGGGATGGGAATTGATTATGGCTG CCTGGGGCTG	CEP19	ENSG00000174007.9	transcript	ENST00000409690.5	protein_coding		2726		chr3	TogoVar
CFAP46_chr10_132803392_132947570	132914031	C C	TGAGGCTG others(587): Show TGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGA GGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACA CTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAG GCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACAC TGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGG CTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACT GCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	205	0.0049	594	c.212 others(611): Show c.2121-773_2121-772insGGCCGGGGTGCAGTGTGGCTGGACACAG CCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCA GTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGC CTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAG TGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914589	C C	CCCCGAGG others(587): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0240 a0010c0011t0001g0240	1	101	0.0099	594	c.212 others(613): Show c.2121-1332_2121-1331insCCGGGGTGCAGTGTGGCTGGACACAG CCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCA GTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGC CTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAG TGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
COL4A1_chr13_110143963_110312157	110252788	A A	AGTATGTA others(587): Show AGTATGTATTACATATACAGATAACTATAAGTACGTATGTATTACATATA CAGATAACTATAAGTACGTATGTATTACATATACAGATAACTATAAGTAC GTATGTATTACATATACAGATAACTATAAGTACGTATGTATTACATATAC AGATAACTATAAGTACGTATGTATTACATATACAGATAACTATAAGTACG TATGTATTACATATACAGATAACTATAAGTACGTATGTATTACATATACA GATAACTATAAGTACGTATGTATTACATATACAGATAACTGTAAGTACGT ATGTATTACATATACAGATAACTATAAGTACGTATGTATTACATATACAG ATAACTATAAGTACGTATGTATTACATATACAGATAACTATAAGTACGTA TGTATTACATATACAGATAACTATAAGTACGTATGTATTACATATACAGA TAACTATAAGTACGTATGTATTACATATACAGATAACTATAAGTACGTAT GTATTACATATACAGATAACTATAAGTACGTATGTATTACATATACAGAT AACTATAAGTACGTATGTATTACATATACAGATAACTATAAGTAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0097 a0002c0097	a0002c0097t0006 a0002c0097t0006	a0002c0097t0006g0292 a0002c0097t0006g0292	1	182	0.0055	594	c.85- others(611): Show c.85-10055_85-10054insGTACTTATAGTTATCTGTATATGTAATA CATACGTACTTATAGTTATCTGTATATGTAATACATACGTACTTATAGTT ATCTGTATATGTAATACATACGTACTTATAGTTATCTGTATATGTAATAC ATACGTACTTATAGTTATCTGTATATGTAATACATACGTACTTATAGTTA TCTGTATATGTAATACATACGTACTTATAGTTATCTGTATATGTAATACA TACGTACTTATAGTTATCTGTATATGTAATACATACGTACTTATAGTTAT CTGTATATGTAATACATACGTACTTACAGTTATCTGTATATGTAATACAT ACGTACTTATAGTTATCTGTATATGTAATACATACGTACTTATAGTTATC TGTATATGTAATACATACGTACTTATAGTTATCTGTATATGTAATACATA CGTACTTATAGTTATCTGTATATGTAATACATACGTACTTATAGTTATCT GTATATGTAATACATACGTACTTATAGTTATCTGTATATGTAATACATAC GTACTTATAGTTATCTGTATATGTAATACATACGTACTTATAGTTATCTG TATATGTAATACATAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481518	T T	TGTTCTGT others(587): Show TGTTCTGTCCTTCCGTTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCT GGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGTTCTGTCC CTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAGACACAC TGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTG GAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCT CCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGTT CTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAG ACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCC GTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTT CTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGA CACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCA TTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0025 a0025	a0025c0053 a0025c0053	a0025c0053t0007 a0025c0053t0007	a0025c0053t0007g0241 a0025c0053t0007g0241	1	341	0.0029	594	c.275 others(611): Show c.2759-989_2759-988insTTCCGTTGCTGGAGACACACTGTTCTGT CCTTCCGTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGT CCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACAC TGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGG AGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTG TTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGC TCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAG ACACACAGTTCTGTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481592	G G	GTTGCTGG others(587): Show GTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAGACACACTGTT CTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAG ACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCC GTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCT GTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACAC ACTGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGT CCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGC TGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTC CTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACAC AGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0228 a0001c0003t0001g0228	1	224	0.0045	594	c.275 others(611): Show c.2759-909_2759-908insAGTTCTGTCCCTCCGTTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGT CCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACAC TGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGG AGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTG TTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGC TCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAG ACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCC ATTGCTGGAGACACAC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481592	G G	GTTGCTGG others(587): Show GTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGTT CTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAG ACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCC GTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCT GTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGT CCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGC TGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTC CTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACAC AGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18982.hp2 NA18941.hp1 NA18982.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0143 a0002c0006t0006g0144 a0002c0006t0006g0143 a0002c0006t0006g0144	2	225	0.0089	594	c.275 others(611): Show c.2759-909_2759-908insAGTTCTGTCCTTCCGTTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGT CCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACAC TGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGG AGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTG TTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGC TCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAG ACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCC ATTGCTGGAGACACAC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481592	G G	GTTGCTGG others(587): Show GTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGTT CTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAG ACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCC GTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCT GTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACAC ACTGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCATTGCTGGAGACACACTGTTCTGT CCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGC TGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTC CTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACAC AGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0119 a0003c0007t0006g0119	1	224	0.0045	594	c.275 others(611): Show c.2759-909_2759-908insAGTTCTGTCCTTCCGTTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGT CCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACAC TGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGG AGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCATTGCTGGAGACACACTG TTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGC TCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAG ACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCC ATTGCTGGAGACACAC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481592	G G	GTTGCTGG others(587): Show GTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGTT CTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAG ACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCC GTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCT GTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACAC ACTGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGT CCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGC TGGAGACACACAGTTCTGTCCTTCCATTGCTGGAGACACACTGCTCTGTC CTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACAC AGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0002 a0005c0020t0002	a0005c0020t0002g0271 a0005c0020t0002g0271	1	224	0.0045	594	c.275 others(611): Show c.2759-909_2759-908insAGTTCTGTCCTTCCGTTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGT CCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACAC TGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGG AGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTG TTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTGCTGGAGACACACAGTTCTGTCCTTCCATTGCTGGAGACACACTGC TCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAG ACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCC ATTGCTGGAGACACAC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481592	G G	GTTGCTGG others(587): Show GTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGTT CTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAG ACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCC GTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCT GTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACAC ACTGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGT CCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGC TGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTC CTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACAC AGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(83): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01261.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG02698.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03688.hp2 HG04228.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18971.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA19001.hp2 NA19002.hp2 NA19011.hp2 NA19056.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0011 a0014 a0016 a0018 a0021 a0022 a0023	a0001c0001 a0001c0002 a0001c0003 others(33): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0014 a0001c0016 a0001c0024 a0001c0028 a0001c0029 a0001c0047 a0001c0051 a0001c0052 a0002c0006 a0002c0017 a0002c0087 a0003c0010 a0004c0009 a0004c0012 a0004c0085 a0005c0020 a0005c0021 a0005c0043 a0006c0027 a0006c0033 a0008c0023 a0009c0032 a0011c0036 a0014c0108 a0016c0104 a0018c0103 a0021c0078 a0022c0099 a0023c0048	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0003t0002 a0001c0003t0003 a0001c0003t0044 a0001c0004t0004 a0001c0004t0040 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0009 a0001c0008t0001 a0001c0008t0002 a0001c0011t0003 a0001c0011t0004 a0001c0014t0001 a0001c0016t0001 a0001c0016t0007 a0001c0024t0002 a0001c0028t0001 a0001c0028t0002 a0001c0029t0001 a0001c0047t0002 a0001c0051t0004 a0001c0052t0003 a0002c0006t0001 a0002c0006t0004 a0002c0017t0002 a0002c0017t0003 a0002c0087t0001 a0003c0010t0004 a0004c0009t0002 a0004c0012t0004 a0004c0085t0001 a0005c0020t0006 a0005c0021t0001 a0005c0021t0041 a0005c0043t0001 a0005c0043t0002 a0006c0027t0007 a0006c0027t0039 a0006c0033t0012 a0008c0023t0001 a0008c0023t0002 a0008c0023t0009 a0009c0032t0002 a0009c0032t0003 a0011c0036t0021 a0014c0108t0002 a0016c0104t0006 a0018c0103t0004 a0021c0078t0003 a0022c0099t0006 a0023c0048t0005	a0001c0001t0001g0153 a0001c0001t0002g0333 a0001c0001t0003g0124 others(82): Show a0001c0001t0001g0153 a0001c0001t0002g0333 a0001c0001t0003g0124 a0001c0001t0004g0280 a0001c0001t0004g0290 a0001c0001t0005g0105 a0001c0001t0006g0047 a0001c0001t0006g0083 a0001c0002t0001g0152 a0001c0002t0001g0193 a0001c0002t0001g0243 a0001c0002t0002g0286 a0001c0002t0003g0051 a0001c0002t0003g0067 a0001c0002t0003g0079 a0001c0002t0003g0136 a0001c0002t0005g0158 a0001c0002t0005g0215 a0001c0002t0005g0216 a0001c0002t0006g0046 a0001c0003t0002g0342 a0001c0003t0003g0049 a0001c0003t0044g0242 a0001c0004t0004g0287 a0001c0004t0004g0331 a0001c0004t0040g0050 a0001c0005t0001g0184 a0001c0005t0002g0322 a0001c0005t0002g0334 a0001c0005t0002g0338 a0001c0005t0002g0341 a0001c0005t0003g0052 a0001c0005t0003g0080 a0001c0005t0009g0013 a0001c0008t0001g0108 a0001c0008t0001g0149 a0001c0008t0002g0276 a0001c0008t0002g0344 a0001c0011t0003g0125 a0001c0011t0004g0207 a0001c0014t0001g0194 a0001c0016t0001g0109 a0001c0016t0007g0159 a0001c0016t0007g0219 a0001c0016t0007g0224 a0001c0016t0007g0225 a0001c0016t0007g0235 a0001c0024t0002g0345 a0001c0028t0001g0167 a0001c0028t0002g0305 a0001c0029t0001g0161 a0001c0047t0002g0311 a0001c0051t0004g0316 a0001c0052t0003g0141 a0002c0006t0001g0229 a0002c0006t0004g0272 a0002c0017t0002g0295 a0002c0017t0002g0335 a0002c0017t0003g0126 a0002c0087t0001g0257 a0003c0010t0004g0002 a0004c0009t0002g0325 a0004c0012t0004g0300 a0004c0085t0001g0200 a0005c0020t0006g0073 a0005c0020t0006g0097 a0005c0021t0001g0211 a0005c0021t0041g0072 a0005c0043t0001g0137 a0005c0043t0002g0273 a0006c0027t0007g0177 a0006c0027t0039g0096 a0006c0033t0012g0336 a0008c0023t0001g0262 a0008c0023t0002g0313 a0008c0023t0009g0015 a0009c0032t0002g0303 a0009c0032t0003g0123 a0011c0036t0021g0320 a0014c0108t0002g0323 a0016c0104t0006g0085 a0018c0103t0004g0302 a0021c0078t0003g0138 a0022c0099t0006g0059 a0023c0048t0005g0206	86	309	0.2783	594	c.275 others(611): Show c.2759-909_2759-908insAGTTCTGTCCTTCCGTTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGT CCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACAC TGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGG AGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTG TTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGC TCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAG ACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCC ATTGCTGGAGACACAC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CXorf51A_chrX_146809106_146819744	146812295	G G	GTGTACAT others(587): Show GTGTACATATATGTGTATATACGTATATACACATATATATGTGTACATAT ATGTGTATATATGTATATACACATATATATGTGTATATATGTATATACAC ATATATTTGTGTACATATATGTGTGTATATGTGTGTGTATATACACATAT ATGTATATACACACACATATACACACATATATGTACACATATATGTATAT ACACACATATATACACACATATGTGTACATATATGTGTATATACGTATAT ACACATATATATGTGTACATATATGTGTATATATGTATATACACATATAT ATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTATAT ATGTATATACACATATATATGTGTACATATATGTGTGTATATGTGTGTGT ATATACACATATATGTATATACACACACATATACACACATATATGTACAC ATATATATGTGTATATACATATACACACATATATGTACACATATATGTGT GTATATACATATATACACATATATGTACACATATATATGTGTATATACGT ATATACACATATATGTACACATATGTGTGTATATATGTGTGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01168.hp2 HG02738.hp1 HG00558.hp2 HG01168.hp2 HG02738.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0001 a0004c0005t0001g0007 a0001c0001t0001g0001 a0004c0005t0001g0007	3	248	0.0121	594	c.19 others(605): Show c.1911_*1912insTATACACACATATATACACACATATGTGTACATA TATGTGTATATACGTATATACACATATATATGTGTACATATATGTGTATA TATGTATATACACACATATATGTGTACATATATGTGTGTATATGTATATA CACATATATATGTGTACATATATGTGTGTATATGTGTGTGTATATACATA TATGTGTATATACACACACATATACACACATATATGTACACATATATATG TGTATATACATATATACACATATATATGTGTATATACATATATACACATA TATGTACACATATATATGTGTATATACATATATACACATATATGTACACA TATATATGTGTATATACGTATATACACATATATGTACACATATGTGTGTA TATATGTGTGTATATACATATATGTGTACATATATGTGTGTATATGTGTG TGTATATACATATATGTGTATATACACACACATATACACACATATATGTA CACAAATATATGTGTATATACATATATACACATATATATGTGTATATACA TATATACACATATATGTACACATATATATGTGTATATACGTATATACACA TATATGTACA	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1810		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812296	T T	TGTACATA others(587): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTATATATGTATATACACATATATATGTGTACATATATGTGTGTATATG TGTGTATATATACATATATGTGTATATACGTATATACACATGTGTATATA CGTATATACACACATATATGTGTACATATATGTGTGTATATGTGTGTGTA TATACATATATGTGTATATACGTATATACACATGTGTATATACGTATATA CACATATATATGTGTACATATATGTGTGTATATGTGTGTGTATATACATA TATGTGTATATACGTATATACACATATATGTGTACATATATGTGTGTATA TGTGTGTATATACATATATGTGTATATACATATATACACATATATATGTG TGTATATGTGTGTGTATATACATATATGTGTATATACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	102	0.0098	594	c.19 others(605): Show c.1910_*1911insGTATATACGTATATACACATATATGTATATACAC ACACATATACACACATATATATGTGTATATATGTATATACACATATATGT ATATACACACATATACACACATATATGTACACATATATGTGTATATACGT ATATACACATATATGTATATACACACACATATACACACATATATGTACAC ATATATATGTGTATATACGTATATACACATGTGTATATACGTATATACAC ATATATGTATATACACACACATATACACACATATATGTACACATATATGT GTGTATATACGTATATACACATGTGTATATACGTATATACACATATATGT ATATATACACACATATACACACATATATGTACACATATATATGTGTATAT ACATATATACACATATATATGTGTATATACATATATACACATATATGTAC ACATATATATGTGTATATACATATATACACATATATGTACACATATATAT GTGTATATACATATATACACATATATGTACACATATATATGTGTATATAC ATATATACACATATATGTACACATATATATGTGTATATACATATATACAC ATATATGTAC	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1809		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812295	G G	GTGTACAT others(587): Show GTGTACATATATGTGTATATACGTATATACACATATATATGTGTACATAT ATGTGTATATATGTATATACACATATATATGTGTATATATGTATATACAC ATATATTTGTGTACATATATGTGTGTATATGTGTGTGTATATACACATAT ATGTATATACACACACATATACACACATATATGTACACATATATGTATAT ACACACATATATACACACATATGTGTACATATATGTGTATATACGTATAT ACACATATATATGTGTACATATATGTGTATATATGTATATACACATATAT ATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTATAT ATGTATATACACATATATATGTGTACATATATGTGTGTATATGTGTGTGT ATATACACATATATGTATATACACACACATATACACACATATATGTACAC ATATATATGTGTATATACATATACACACATATATGTACACATATATGTGT GTATATACATATATACACATATATGTACACATATATATGTGTATATACGT ATATACACATATATGTACACATATGTGTGTATATATGTGTGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01168.hp2 HG02738.hp1 others(1): Show HG00558.hp1 HG01168.hp2 HG02738.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	251	0.0159	594	c.19 others(605): Show c.1987_*1988insTGTACATATATGTGTATATACGTATATACACATA TATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTA TATATGTATATACACATATATTTGTGTACATATATGTGTGTATATGTGTG TGTATATACACATATATGTATATACACACACATATACACACATATATGTA CACATATATGTATATACACACATATATACACACATATGTGTACATATATG TGTATATACGTATATACACATATATATGTGTACATATATGTGTATATATG TATATACACATATATATGTGTACATATATGTGTATATATGTATATACACA TATATATGTGTATATATGTATATACACATATATATGTGTACATATATGTG TGTATATGTGTGTGTATATACACATATATGTATATACACACACATATACA CACATATATGTACACATATATATGTGTATATACATATACACACATATATG TACACATATATGTGTGTATATACATATATACACATATATGTACACATATA TATGTGTATATACGTATATACACATATATGTACACATATGTGTGTATATA TGTGTGTATA	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1885		chrX	TogoVar
DCLK2_chr4_150073445_150262438	150251031	T T	TCCCCCAC others(587): Show TCCCCCACACCACACATCCCCCACACCCCCAAATCCCCCACACCCCCCAC ATCTCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCCACATC CCCCACACCCCCACACATCCCCCACACCCCCCAAATCCCCCACACCCCCC AAATCCCCCACACCCCCCAAATCCCCCACATCCCCCACATCCCCCACACC CCCCACACCCCCCACACCCCCCACACCCCCACACATCCCCCACACCCCCA CACATCCCCCACACCCCCACACATCCCCCACATCCCCCACACCCCTCACA TCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCACATCC CCCACATCCCCCACATCCCCCACACCCCCACACATCCCCCACACCCCCAC ACATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCACA CCCCCACACATCCCCCACATCCCCCACACCCCTCACATCCCCCACACCCC CACACATCCCCCACACCCCCACACCCCCCACATCCCCCACATCCCCCACA CCCCCACACCCCCCACATCCCCCACATCCCCCACACCCCCCACAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0054 a0002c0002t0004g0054	1	104	0.0096	594	c.207 others(613): Show c.2073+1350_2073+1351insCCACACCACACATCCCCCACACCCCC AAATCCCCCACACCCCCCACATCTCCCCACACCCCCCACATCCCCCACAC CCCCCACATCCCCCCACATCCCCCACACCCCCACACATCCCCCACACCCC CCAAATCCCCCACACCCCCCAAATCCCCCACACCCCCCAAATCCCCCACA TCCCCCACATCCCCCACACCCCCCACACCCCCCACACCCCCCACACCCCC ACACATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCA CATCCCCCACACCCCTCACATCCCCCACACCCCCACACATCCCCCACACC CCCACACATCCCCCACATCCCCCACATCCCCCACATCCCCCACACCCCCA CACATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCAC ACCCCCACACATCCCCCACACCCCCACACATCCCCCACATCCCCCACACC CCTCACATCCCCCACACCCCCACACATCCCCCACACCCCCACACCCCCCA CATCCCCCACATCCCCCACACCCCCACACCCCCCACATCCCCCACATCCC CCACACCCCCCACACCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(587): Show CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCC GCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTCACCCGCAC CCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	253	0.0040	594	c.39 others(605): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGG GGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCG GGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(587): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCC CCACCCGCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCTCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCGCCCACCCCCCACCCCCACCCCCACCCGCACCCCCACCCCCC ACCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCCAC CCGCACCCGCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCCACC CCCACCTCCACCCCCACCCGCACCCGCACCCCCACCCCGCACCCCCACCC CCACCCGCACCCCCACCCCCACCCTCACCCGCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCTCACCCCCACCCTCACCCGCACCCGCACCCCCAC CCTCACCCCCACCCTCACCCCCACCCTCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0204 a0002c0002t0001g0204	1	86	0.0116	594	c.39 others(605): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGGTGGGGGTGCGGGTGCGGGTGGGG GTGGAGGTGGGGGTGGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGG TGCGGGTGCGGGTGGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGT GCGGGTGGGGTGGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGGTG GGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DISP3_chr1_11474155_11542551	11522629	G G	GCCCAGCC others(587): Show GCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGGCCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGA CCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGC CCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCC AGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACC CAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAG GACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCA GCGAGAGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGG ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0010 a0010c0019t0010	a0010c0019t0010g0109 a0010c0019t0010g0109	1	214	0.0047	594	c.236 others(613): Show c.2363-1304_2363-1303insGACCCAGCCAGAGCCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAG GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAG CCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAG CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGC CAAGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGGCCCAGCCAGAGCCCAGCC AGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCC CAGCCAGGACCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP2_chr8_732628_1713476	992416	G G	GACCCCCT others(587): Show GACCCCCTCCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTG CCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTC CTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTC CCTCCTTGCCCACACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTC TCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTT CTTCTCTCCCCCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCC TGTTCTTCTCTCCCACCTTGCCCGGACCCCCTCCACCCCCATACTCGGAG TTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTC GGAGTTCCTGTTCTTCTCTCCCCCCTTGCCCGGACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCACACCCCCTGCACCC CCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTCC ACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	36	0.0278	594	c.73+ others(611): Show c.73+84457_73+84458insCCACCCCCATACTCGGAGTTCCTGTTCT TCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTG TTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTT CCTGTTCTTCTCTCCCTCCTTGCCCACACCCCCTGCACCCCCATACTCGG AGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATAC TCGGAGTTCCTGTTCTTCTCTCCCCCCTTGCCCAGACCCCCTGCACCCCC ATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTCCAC CCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCT GCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTGCCCGGACC CCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCA CACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTG CCCGGACCCCCTCCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTC CTTGCCCACACCCCCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1508511	T T	TGCAAACC others(587): Show TGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCAC CACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCCCTGCA AACCCCCGCTACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACC CCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCTCCCACCCCT CACCACCCCCTGCAAACCCCCACCCCCCCCCACAAACCCCCGCCACCCCC TGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCAC CACCCCCCGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCAC CCCTCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACC CCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCT CACCACCCCCCGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCC CACCCCTCACCACCCCCCACAAACCCCCGCCACCCCCTGCAAACCCCCGC CACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	11	0.0909	594	c.172 others(611): Show c.172+7096_172+7097insCCCTGCAAACGCCCACCACCCCCCACCC CTCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCC CTGCAAACCCCCGCTACCCCCTGCAAACGCCCACCACCCCCCACCCCTCA CCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCTCCCA CCCCTCACCACCCCCTGCAAACCCCCACCCCCCCCCACAAACCCCCGCCA CCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCC CTCACCACCCCCCGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCC CCCACCCCTCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCG CCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCA CCCCTCACCACCCCCCGCAAACCCCCGCCACCCCCTGCAAACGCCCACCA CCCCCCACCCCTCACCACCCCCCACAAACCCCCGCCACCCCCTGCAAACC CCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCC GCAAACCCCCGCCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH17_chr17_78418697_78582396	78438438	A A	AGGAGGAG others(587): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGG AGGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGG AGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGG GAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGG AGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAG GAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGA GGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGG AGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAG GAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGA GGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0075 a0075	a0075c0116 a0075c0116	a0075c0116t0001 a0075c0116t0001	a0075c0116t0001g0037 a0075c0116t0001g0037	1	241	0.0041	594	c.118 others(613): Show c.11806-571_11806-570insCTCCTCCTCCTCCTCCCTCCTCCTCC TCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCC CTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCC TCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCT CCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCC TCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTC CCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCT CCCCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCCT CCTCCTCCCCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTC CTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCC CTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOCK1_chr10_126900428_127457516	126947906	T T	TTGGTGGT others(587): Show TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT AGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTT GGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGG TAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGT GATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGT AGTATTACTGTTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	52	0.0192	594	c.47- others(611): Show c.47-22791_47-22790insGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTT GGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGG TGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAG TATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGT GATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(587): Show CACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCT CCACCACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACC ACCTCCTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCAC CACCATCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCAGCTCCACCATCACCACCTCCTTCACC ATCACCACCACCACCTCCTCCACCACCACCACCACCTCCACCACCACCTC CTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCACCACCA TCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCACCACC ACCACCTCCATCACCACCACCACCACCACCACCACCACTTCCACCATCAC CACCACCTCCACCATCACCACCACCACCACCACCACCACCTCCACCACCA CCGTCACCACCTTCTCCACCACCACCATCTTCACCATCACCACCATCGCC CTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0098 a0002c0098	a0002c0098t0002 a0002c0098t0002	a0002c0098t0002g0121 a0002c0098t0002g0121	1	155	0.0065	594	c.323 others(613): Show c.3234+1717_3234+1718insCCACCACCTCCTCCACCATCACCACC AGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCAC CTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTCCA CCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCACC TCCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCTC CACCATCACCACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCA CCACCACCTCCACCACCACCTCCTCCACCACCACCACCACCTCCACCACC ACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCACCTCCAT CACCACCACCTCCACCACCACCACCACCTCCATCACCACCACCACCACCA CCACCACCACTTCCACCATCACCACCACCTCCACCATCACCACCACCACC ACCACCACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCACCAT CTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCT TTCCTATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(587): Show CACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCT CCACCACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACC ACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCTCCACCAT CACCACCACCTCCACTATCACCACCAGCTCCACCATCACCACCACCTCCA CCACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACCACC TCCTCCACTACCACCACCATCTTCACCATCACCACCACCTCCACCATCAC CACCACCTCCACTATCACCACCACCTCCACCATCACCACCACCACCACCT CCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACC ACCTCCACCATCACCACCACCTCCACCACCACCATCACCTCCACCACCAC CACTTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCACCA CCCTCACCACCTTCTCCACCACCACCATCTTCACCATCACCACCATCGCC CTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0011 a0011	a0011c0148 a0011c0148	a0011c0148t0017 a0011c0148t0017	a0011c0148t0017g0070 a0011c0148t0017g0070	1	155	0.0065	594	c.323 others(613): Show c.3234+1717_3234+1718insCCACCACCTCCTCCACCATCACCACC AGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCAC CTCCTTCACCATCACCACCACCACCTCCTCCACTACCACCACCATCTTCA CCATCACCACCACCTCCACCATCACCACCACCTCCACTATCACCACCAGC TCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCACCTC CTTCACCATCACCACCACCACCTCCTCCACTACCACCACCATCTTCACCA TCACCACCACCTCCACCATCACCACCACCTCCACTATCACCACCACCTCC ACCATCACCACCACCACCACCTCCACCACCACCACCACCTCCACCATCAC CACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCATCACCTCCACCACCACCACTTCCACCATCACCACCTCCTTCACC ATCACCATCACCACCACCACCACCCTCACCACCTTCTCCACCACCACCAT CTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCT TTCCTATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIPR1_chr2_3183970_3382818	3221310	A A	ACACTCAC others(587): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGG GAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAG TCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAG TGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	197	0.0051	594	c.417 others(611): Show c.417-7063_417-7062insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTGTTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCAC TGTGAGTGTTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGAC TCACTGTGAGTGTTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCC CGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221310	A A	ACACTCAC others(587): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGG GAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAG TCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAG TGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	197	0.0051	594	c.417 others(611): Show c.417-7063_417-7062insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCAC TGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGAC TCACTGTGAGTGTTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCC CGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221418	A A	ACACTCAC others(587): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGG GAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAG TCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAG TGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03239.hp2 NA20805.hp1 HG01175.hp2 HG03239.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0064 a0001c0001t0001g0125 a0001c0001t0002g0191 a0001c0001t0001g0064 a0001c0001t0001g0125 a0001c0001t0002g0191	3	134	0.0224	594	c.417 others(611): Show c.417-7171_417-7170insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCAC TGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGAC TCACTGTGAGTGTTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCC CGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221418	A A	ACACTCAC others(587): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGG GAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAG TCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAG TGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	132	0.0076	594	c.417 others(611): Show c.417-7171_417-7170insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCAC TGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGAC TCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCC CGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221526	A A	ACACTCAC others(587): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGG GAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAG TCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAG TGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01346.hp2 HG01256.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0031 a0001c0001t0001g0032	2	61	0.0328	594	c.417 others(611): Show c.417-7279_417-7278insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCAC TGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGAC TCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCC CGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221634	A A	ACACTCAC others(587): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGG GAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAG TCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAG TGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	27	0.0370	594	c.417 others(611): Show c.417-7387_417-7386insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCAC TGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGAC TCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCC CGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315777	A A	ATCCTCAC others(587): Show ATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACAC CCCCTACCACCACCATCACCACCATCCCCATACACACCCCCTACCACCAC CATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATC CCTATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCC CCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCA TCACCACCATCCCCACACACACCCCCTACCACCATCCTCACCACCATCCC CATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCC TACCACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATC ACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCA TCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTA CCACCACCATCACCACCATCCCCATACACACCCCCACCACCATCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	204	0.0049	594	c.259 others(613): Show c.259+22239_259+22240insGGATGGTGGTGGGGGTGTGTATGGGG ATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGG TGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTG TGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGG TGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATAGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG GATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTG GTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGA TGGGGATGGTGGTGAGGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(587): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18949.hp2 NA18956.hp1 others(1): Show HG01978.hp2 NA18949.hp2 NA18956.hp1 NA19070.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0002c0001 a0009c0015 a0001c0002 a0002c0001 a0009c0015	a0001c0002t0001 a0002c0001t0001 a0002c0001t0005 others(1): Show a0001c0002t0001 a0002c0001t0001 a0002c0001t0005 a0009c0015t0001	a0001c0002t0001g0001 a0002c0001t0001g0098 a0002c0001t0005g0015 others(1): Show a0001c0002t0001g0001 a0002c0001t0001g0098 a0002c0001t0005g0015 a0009c0015t0001g0086	4	77	0.0519	594	c.282 others(613): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(587): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGTCTTTGTATA CAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0007 a0003c0014t0007	a0003c0014t0007g0162 a0003c0014t0007g0162	1	141	0.0071	594	c.282 others(613): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAG TCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCTTTGTAT ACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar

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