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
CYP4F11_chr19_15907377_15939529	15933212	A A	ATGAGTGA others(473): Show ATGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0134 a0002c0001t0006g0134	1	371	0.0027	480	c.198 others(495): Show c.198+998_198+999insCTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933272	A A	ATGAGTGA others(473): Show ATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GAGGAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0144 a0002c0001t0011g0144	1	369	0.0027	480	c.198 others(495): Show c.198+938_198+939insCTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTCCT CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933372	A A	ATGAGTGA others(473): Show ATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGGAGAGGAG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0010 a0002c0001t0010	a0002c0001t0010g0156 a0002c0001t0010g0156	1	378	0.0026	480	c.198 others(495): Show c.198+838_198+839insCTCCTCTCCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933425	G G	GAGAGGAA others(473): Show GAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGAGGAGAGGAGTGAGTGAGCGAGGAGAGGAGTG AGTGAGCGAGCAGAGGAGTGAGTGAGCGAGCAGAGGAGTGAGTGAGCGAG AAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0054 a0002c0001t0054	a0002c0001t0054g0305 a0002c0001t0054g0305	1	331	0.0030	480	c.198 others(495): Show c.198+785_198+786insGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT GCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCT TCTCGCTCACTCACTCCTCTGCTCGCTCACTCACTCCTCTGCTCGCTCAC TCACTCCTCTCCTCGCTCACTCACTCCTCTCCTCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DCC_chr18_52335197_53540899	52571371	T T	TCAGTGTT others(473): Show TCAGTGTTTCTATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATAC TCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTA TACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATT AGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCCACCCCACCACAG TCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTC AATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGC GATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAA GGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATA TGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGG TTCCAAGTCTTTGCTATTGTGAATAGTGCCG	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA20752.hp2 HG01993.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0001 a0001c0008 a0002c0001	a0001c0008t0026 a0002c0001t0002 a0001c0008t0026 a0002c0001t0002	a0001c0008t0026g0095 a0002c0001t0002g0018 a0001c0008t0026g0095 a0002c0001t0002g0018	2	113	0.0177	480	c.92- others(499): Show c.92-180667_92-180666insTTTTTTTTTTTTTTTTTTTTTTTTTT ATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTAC ATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATC TAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCCACCCC ACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTC ATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTG TTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCC CTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATG GTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTT GGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAGTGTTTCTAT TGTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(473): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGGAGAGAGGGAGGAATGGAGGAATGGAGGGATGG GGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGGAGGGGAGT GGAAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGTGGAGGGGAGGGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGGGGGAGGGGGAGGGGAGGGAGGGGGAGGGGAGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGG GGGAGGGGAAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGA GGGGGAGGGGAAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0148 a0002c0002t0001g0148	1	97	0.0103	480	c.923 others(499): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCC CTCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCTCCCCTCCCCCTCCCTCCCCTCCCCCTCCCCCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCACCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTTCCACTCCCCTCCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCC CCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCTCTCCCTCCCTCCCTC CCTCCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCC TCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIDO1_chr20_62872743_62931505	62875272	C C	CCACCCCC others(473): Show CCACCCCCACCCCCACCCCCACCCCCACCCGCACCGGCACCCCCACCCGC ACCGGCACCCCCACCCTCACCCTCACCCCCACCCCCACCCCCACCCCACC CCCACCCCCACCCTCACCCCCACCCCCACCCCACCCCCACCCCCACCCTC ACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCGGCACCCCCAC CCGCACCGGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCC GCACCCTCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCCA CCCCCACCCCCACCCGCACCCCCCACCCCCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCC GCACCCCCACCCCCACCCCCACCCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0196 a0007c0007t0001g0196	1	301	0.0033	480	c.39 others(491): Show c.3960_*3961insCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG GGGGTGGGGGTGGGGGTGGGGGTGGGGGGTGCGGGTGGGGGTGGGGGTGG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGCGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCCGGTGCGGGTG GGGGTGCCGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAG GGTGGGGGTGGGGGTGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGT GGGGTGGGGGTGGGGGTGGGGGTGAGGGTGAGGGTGGGGGTGCCGGTGCG GGTGGGGGTGCCGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2470		chr20	TogoVar
DLGAP2_chr8_732628_1713476	748222	G G	GTCTGCGG others(473): Show GTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGAGCGGGTCTGCGGTG GGATGGGGGGCTCTGCGGTGGGATGAGCGGGTCTGCGGTGGGATGGGGGG CTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGAGCTCTGCGGTG GGATGGGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGG GTCTGCGGTGGGATGGGGAGCTCTGCGGTGGGATGGGCGGGTCTGCGGTG GGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGG GTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTG GGATGGGGAGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGG GTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGAGCGGGTCTGCGGTG GGATGGGCGGGTCTGCGGTGGGATGGGGGGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0002c0001 a0003c0005	a0002c0001t0002 a0002c0001t0019 a0003c0005t0002 a0002c0001t0002 a0002c0001t0019 a0003c0005t0002	a0002c0001t0002g0032 a0002c0001t0019g0031 a0003c0005t0002g0030 a0002c0001t0002g0032 a0002c0001t0019g0031 a0003c0005t0002g0030	3	35	0.0857	480	c.18+ others(497): Show c.18+10413_18+10414insGGGCTCTGCGGTGGGATGAGCGGGTCTG CGGTGGGATGGGGGGCTCTGCGGTGGGATGAGCGGGTCTGCGGTGGGATG GGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGAGCTCTG CGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATG GGCGGGTCTGCGGTGGGATGGGGAGCTCTGCGGTGGGATGGGCGGGTCTG CGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATG GGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTG CGGTGGGATGGGGAGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATG GGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGAGCGGGTCTG CGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATG GG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPEP1_chr16_89608642_89643433	89619474	C C	CCTGCAGC others(473): Show CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCTCCCTCCCTGCAGCT CCATGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCC TCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCCTGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGC TCCATGCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCTGCTCCCCTGT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	210	0.0048	480	c.-10 others(499): Show c.-107+5762_-107+5763insTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCT CTCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCCTGCCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTG CTCCCCTCCCTGCAGCTCCATGCCCCCTGCTCCCCTCCCTGCAGCTCCAT GCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTGTCTG CAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EIPR1_chr2_3183970_3382818	3315984	G G	GCCCCACC others(473): Show GCCCCACCACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCAC CATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATC CCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCC CCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCA TCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCC CATCCACACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCC TACCACCACCATCACCACCATCCCCATACACACCCCCTACCACCACCATC ACCACCATCCCCATACACACCCCCTACCACCATCCTCACCACCATCCCCA TCCACACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCTA CCACCACCATCACCACCATCCCCATCCACAC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	25	0.0400	480	c.259 others(499): Show c.259+22032_259+22033insGTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGGT GTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGTATGGGGATG GTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGG TGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGT GGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGT GGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTG GTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGG ATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGG TGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGT GGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXD3_chr9_137301896_137428162	137328741	G G	GTCACACG others(473): Show GTCACACGGGACTACACGGGACTACACGGGACTACACGGGACTACACGGG GTCACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGG ACTACACGGGGCTACACGGGACTACACGGGGTCACACGGGACTACACGGG ACTACACGGGACTACACGGGGCTACACGGGGTCACACGGGACTACACGGG ACTACACGGGGCTACACGGGGTCACACGGGACTACACGGGGCTACACGGG ACTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGG GTCACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGG ACTACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGG ACTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGG ACTACACGGGGTCACACGGGACTACACGGGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0021 a0021	a0021c0027 a0021c0027	a0021c0027t0001 a0021c0027t0001	a0021c0027t0001g0064 a0021c0027t0001g0064	1	68	0.0147	480	c.199 others(499): Show c.1999-4599_1999-4598insTCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGT GTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTGACCCCGTGTAGCCCCGT GTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGCCCCGTGTAGTCCCGT GTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGT GTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGT GTGA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FAM53A_chr4_1634887_1689313	1671073	C C	CCACAGCC others(473): Show CCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCACCCAGC TCACAGCCACAGCCCGGACTCACCTCTGTCCCACCGTCAGAGCCCCCAGC TCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCC ACCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTC AGAGCCACCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCC AGCGTCAGAGCCCCCAGCTCACAGCCACGGCCCGGACTCACCTCTGTCCC AGCGTCAGAGCCACCAGCTCACAGCCACGGCCCGGACTCACCTCTGTCCC AGCGTCAGAGCCACCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTC TGTCCCAGCGTCAGAGCCACCAGCTCACAGCCACAGCCACGGCCCAGACT CACCTCTGTCCCAGCGTCAGAGCCACCAGCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0278 a0002c0003t0002g0278	1	305	0.0033	480	c.-16 others(499): Show c.-164-2169_-164-2168insAGCTGGTGGCTCTGACGCTGGGACAG AGGTGAGTCTGGGCCGTGGCTGTGGCTGTGAGCTGGTGGCTCTGACGCTG GGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGGGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTG GCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAG CTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGC TGTGAGCTGGGGGCTCTGACGGTGGGACAGAGGTGAGTCCGGGCTGTGGC TGTGAGCTGGGTGCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGC TGTG	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	1/4			chr4	TogoVar
FAM53A_chr4_1634887_1689313	1671073	C C	CCACAGCC others(473): Show CCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCCCCCAGC TCACAGCCACAGCCCGGACTCACCTCTGTCCCACCGTCAGAGCCCCCAGC TCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCC ACCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTC AGAGCCACCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCC AGCGTCAGAGCCCCCAGCTCACAGCCACGGCCCGGACTCACCTCTGTCCC AGCGTCAGAGCCACCAGCTCACAGCCACGGCCCGGACTCACCTCTGTCCC AGCGTCAGAGCCACCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTC TGTCCCAGCGTCAGAGCCACCAGCTCACAGCCACAGCCACGGCCCAGACT CACCTCTGTCCCAGCGTCAGAGCCACCAGCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01109.hp1 HG01243.hp2 others(40): Show HG00733.hp1 HG01109.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG02027.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02293.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03540.hp2 NA18522.hp1 NA18951.hp1 NA18954.hp2 NA18969.hp2 NA18977.hp1 NA18979.hp2 NA18990.hp2 NA18994.hp1 NA19070.hp2 NA19087.hp2 NA20300.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0011	a0001c0001 a0002c0003 a0005c0005 others(1): Show a0001c0001 a0002c0003 a0005c0005 a0011c0008	a0001c0001t0022 a0002c0003t0002 a0002c0003t0003 others(8): Show a0001c0001t0022 a0002c0003t0002 a0002c0003t0003 a0002c0003t0011 a0002c0003t0016 a0002c0003t0020 a0002c0003t0023 a0002c0003t0029 a0002c0003t0034 a0005c0005t0002 a0011c0008t0016	a0001c0001t0022g0132 a0002c0003t0002g0009 a0002c0003t0002g0138 others(38): Show a0001c0001t0022g0132 a0002c0003t0002g0009 a0002c0003t0002g0138 a0002c0003t0002g0139 a0002c0003t0002g0146 a0002c0003t0002g0156 a0002c0003t0002g0184 a0002c0003t0002g0185 a0002c0003t0002g0186 a0002c0003t0002g0202 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0247 a0002c0003t0002g0248 a0002c0003t0002g0271 a0002c0003t0002g0276 a0002c0003t0002g0295 a0002c0003t0002g0309 a0002c0003t0002g0311 a0002c0003t0003g0109 a0002c0003t0003g0110 a0002c0003t0003g0112 a0002c0003t0003g0113 a0002c0003t0003g0114 a0002c0003t0003g0115 a0002c0003t0003g0124 a0002c0003t0011g0019 a0002c0003t0011g0022 a0002c0003t0011g0023 a0002c0003t0011g0024 a0002c0003t0016g0148 a0002c0003t0016g0308 a0002c0003t0016g0316 a0002c0003t0020g0108 a0002c0003t0020g0123 a0002c0003t0023g0135 a0002c0003t0023g0147 a0002c0003t0029g0060 a0002c0003t0034g0107 a0005c0005t0002g0010 a0011c0008t0016g0277	43	347	0.1239	480	c.-16 others(499): Show c.-164-2169_-164-2168insAGCTGGTGGCTCTGACGCTGGGACAG AGGTGAGTCTGGGCCGTGGCTGTGGCTGTGAGCTGGTGGCTCTGACGCTG GGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGGGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTG GCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAG CTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGC TGTGAGCTGGGGGCTCTGACGGTGGGACAGAGGTGAGTCCGGGCTGTGGC TGTGAGCTGGGGGCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGC TGTG	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	1/4			chr4	TogoVar
FAM53A_chr4_1634887_1689313	1671447	C C	CCACAGCC others(473): Show CCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGC TCACAGCCACAGCCACGGCCCAGACTCACCTCTGTCCCAGCGTCAGAGCC ACCAGCTCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCC ACCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTC AGAGCCACCAGCTCACAGCCACGGCCCGGACTCACCTCTGTCCCACCGTC AGAGCCCCCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCC AGCATCAGAGCCACCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTC TGTCCCAGCGTCAGAGCCACCAGCTCACAGCCACGGCCCGGACTCACCTC TGTCCCAGCGTCAGAGCCACCAGCTCACAGCCACAGCCACAGCCCGGACT CACCTCTGTCCCAGCGTCAGAGCCACCAGCT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0086 a0001c0001t0007g0086	1	77	0.0130	480	c.-16 others(499): Show c.-164-2543_-164-2542insAGCTGGTGGCTCTGACGCTGGGACAG AGGTGAGTCCGGGCTGTGGCTGTGGCTGTGAGCTGGTGGCTCTGACGCTG GGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGTGGCTCTGACGCTG GGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTGGCTCTG ATGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGGG GCTCTGACGGTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGTG GCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAG CTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAG CTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCTGGGCCGTGGCTGTGGC TGTGAGCTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGC TGTG	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	1/4			chr4	TogoVar
FLT4_chr5_180596506_180654600	180634823	T T	TGGGAGGA others(473): Show TGGGAGGATGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTG GGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGG TGGATGGATGCATGGAGGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTG GATGGATGCATGGATGGACGGAAGTATGGGTGGATGGGTGGATGGGTGGG TGGGTGGGTGGGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATG GGTGGGTGGGTGGGTGGATGGATGCATGGAGGGAAGTATGGGTGGATGGG TGGGTGGGTGGGTGGATGGATGCATGGATGGACGGAAGTATGGGTGGATG GGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGAAGTATGGG TGGGTGGGTGGGTGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTG GATGGATGGATGGATGGAAGTATGGGTGGAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0021 a0021	a0021c0042 a0021c0042	a0021c0042t0028 a0021c0042t0028	a0021c0042t0028g0378 a0021c0042t0028g0378	1	367	0.0027	480	c.59- others(495): Show c.59-3046_59-3045insCTCCACCCATACTTCCATCCATCCATCCAT CCACCCACCCATCCACCCATACTTCCATCCATCCATCCACCCACCCACCC ACCCATACTTCCATCCATGCATCCATCCACCCACCCACCCACCCATCCAC CCATCCACCCATACTTCCGTCCATCCATGCATCCATCCACCCACCCACCC ACCCATCCACCCATACTTCCCTCCATGCATCCATCCACCCACCCACCCAC CCATCCACCCATACTTCCATCCATCCATGCATCCACCCACCCACCCACCC ACCCACCCATCCACCCATCCACCCATACTTCCGTCCATCCATGCATCCAT CCACCCACCCACCCACCCATCCACCCATACTTCCCTCCATGCATCCATCC ACCCACCCACCCACCCATCCACCCATACTTCCATCCATCCATGCATCCAC CCACCCACCCATCCACCCATACTTCCATCCATCCATGCATCCATCCTCCC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
GLB1L3_chr11_134271379_134324564	134308214	C C	CCACCACC others(473): Show CCACCACCACCACCATCACCACCATCACCACCATCACCATCACCACCACC ACCATCATCACCATCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCAAATACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCACCA TCACCATCACCACCACCACCACCACCATCACCATCACCATCATCACCATC ACCTCCACCACCACCACCACTATCACCACCATCACCATCACCACCATCAC CACCATCACCATCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCACCAT CACCACCACCACCACCACCATCACCATCACCATCATCACCATCACCTCCA CCACCACCACCACTATCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0050 a0001c0003t0001g0050	1	380	0.0026	480	c.961 others(497): Show c.961+1008_961+1009insCCACCACCACCATCACCACCATCACCAC CATCACCATCACCACCACCACCATCATCACCATCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCAAATACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCAAATACCACCACCACCACCATGTCC ACCACCACTACCACCACCATCACCATCACCACCACCACCACCACCATCAC CATCACCATCATCACCATCACCTCCACCACCACCACCACTATCACCACCA TCACCATCACCACCATCACCACCATCACCATCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCAAATACCACCACCACCACCATGTCCA CCACCACTACCACCACCATCACCACCACCACCACCACCATCACCATCACC ATCATCACCATCACCTCCACCACCACCACCACTATCACCACCATCACCAT CA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLIS2_chr16_4311067_4344595	4344389	T T	TGAGAGAG others(473): Show TGAGAGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGGTGAGAGGAGGGGGT TCTGTGAGAGGAGGGACTGTGTGAGAGGGGTTCTCTGAGAGGAGGGGACT GTGTGAGAGGAGGGGTTCTGTGAGAGGAGGGGTTCTGTGAGAGAGGGACT GTGTGAGAGGAGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGG TTCCGTGAAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGG GGGTTCTGTGAGAGGAGGGGGTTCCTGTGAGGAGGAGGGACTGTGGAGAG GAGGGGTTCTGTGAGAGAGGGGGTTCCGTGAGAGGAGGGACTGTGTGAGA GGAGTGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGT GAGAGGAGGGGGTTCTGTGAAGGAGGGGGTTCTGTGAGAGGAGGGTTCCG TGAGAGGAGGTGACTGTGTAGGAGGGGTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0245 a0003c0005t0001g0245	1	393	0.0025	480	c.68 others(491): Show c.6865_*6866insGAGAGAGGGGGTTCTGTGAGAGGAGGGGGTTCTG GTGAGAGGAGGGGGTTCTGTGAGAGGAGGGACTGTGTGAGAGGGGTTCTC TGAGAGGAGGGGACTGTGTGAGAGGAGGGGTTCTGTGAGAGGAGGGGTTC TGTGAGAGAGGGACTGTGTGAGAGGAGGGTTCTGTGAGAGGAGGGGACTG TGTGAGAGGAGGGGGTTCCGTGAAGGAGGGGACTGTGTGAGAGGAGGGGG TTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCTGTGAGGAGG AGGGACTGTGGAGAGGAGGGGTTCTGTGAGAGAGGGGGTTCCGTGAGAGG AGGGACTGTGTGAGAGGAGTGGGTTCTGTGAGAGGAGGGGGTTCCGTGAG AGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAAGGAGGGGGTTCTGT GAGAGGAGGGTTCCGTGAGAGGAGGTGACTGTGTAGGAGGGGTTCC	GLIS2	ENSG00000126603.9	transcript	ENST00000433375.2	protein_coding		4795		chr16	TogoVar
GPC5_chr13_91393621_92872237	92347925	T T	TATATATA others(473): Show TATATATATATTATATATACTATATATATATTATATATTATATATATAAT ATATATTATATATATAATATATATATTATATATAATATATATATTATATA TAATATATATATTATATATAATATATATATTATATATAATATATATATTA TATACTATATATATTATATATATAATATATATATTATATATAATATATAA TATATATATTATATATAATATATATAGTATATAATATATATATTATATAT ATTATATATATTATATATATAATATATATAATATATAATATATATATTAT ATATAATATATATTATATATAATATATATAATATATATTATATATAATAT ATAATATATATAATATATATTATATATAATATATATTATATATAATATAT ATATTATATATAATATATATTATATATATAATATATATATTATATATAAT ATATAATATATATATTATATATATAATATAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	37	0.0270	480	c.156 others(503): Show c.1561+202943_1561+202944insTATTATATATACTATATATATA TTATATATTATATATATAATATATATTATATATATAATATATATATTATA TATAATATATATATTATATATAATATATATATTATATATAATATATATAT TATATATAATATATATATTATATACTATATATATTATATATATAATATAT ATATTATATATAATATATAATATATATATTATATATAATATATATAGTAT ATAATATATATATTATATATATTATATATATTATATATATAATATATATA ATATATAATATATATATTATATATAATATATATTATATATAATATATATA ATATATATTATATATAATATATAATATATATAATATATATTATATATAAT ATATATTATATATAATATATATATTATATATAATATATATTATATATATA ATATATATATTATATATAATATATAATATATATATTATATATATAATATA CATATATA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(473): Show CCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCCATCCATCC ATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCT ATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCCT GGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATCCATTCAT TTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCATCCATCC ATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCATCCATCC ATCCATCCATGCATCCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	122	0.0082	480	c.283 others(497): Show c.283+5214_283+5215insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATCC ATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCAT CCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCAT CCATCCATCCATCCATGCATCCATCCATGCATGCATGCATCCATCCATCC AT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GTPBP6_chrX_299759_323796	323550	G G	GTGTGTGT others(473): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGT CTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGG GCGTCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTG TAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAG ATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTTTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTG GGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGG TGAGCTCAGGGACATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCG TCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGACAGAA TGAGGGCGTCCCCAGGTGATCTCAGGGACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0074 a0001c0003t0002g0074	1	148	0.0068	480	c.-47 others(491): Show c.-4764_-4763insACGTCCCTGAGATCACCTGGGGACGCCCTCATTC TGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACGG CTACACACACACACACACACACACACACACACATGTCCCTGAGCTCACCA CCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAG GAGCCCAGGAGACTGACGGCTACACACACACACACACACACACACACACA CACACAAACGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTC TATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGACGGCTACAC ACACACACACACACACACACGTCCCTGAGCTCACCACCTGGGGACGCCCT CATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACT GACGGCTACACACACACACACACACACACACACACACACACACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4755		chrX	TogoVar
HCN2_chr19_584881_622159	602382	C C	CCCTCCTC others(473): Show CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTAG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGATGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCC ACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCT CCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTTCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0229 a0001c0001t0004g0229	1	371	0.0027	480	c.633 others(497): Show c.633-1130_633-1129insCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTAGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGATGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCT CCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCA CT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HSPA12A_chr10_116666192_116747566	116732350	A A	AAGAAAGA others(473): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAGAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGAAGAAAGAAA GAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	315	0.0032	480	c.40+ others(497): Show c.40+10079_40+10080insCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT TTCTTTCTTTCTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
ICA1_chr7_8108184_8267167	8152669	C C	CATTATCT others(473): Show CATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTT CAACACCACTACCCCCACCACTACCACCATCACCATCACCTCCACCACCA TCACCATCTCCTTCAACACCACTACCCCCACCACTATCACCATCACCATC ACCTCCACCACCACCACCACCACCATCTCCTTCAACACCACTACCCCCAC CACTACCACCATCACCATCACCTCCACCACCATCACCATCTCCTTCAACA CCACTACCCCCACCACTACCACCATCACCATCACCTCCACCACCATCACC ATCTCCTTCAACACCACTACCCCCACCACTACCACCATCACCTCCTCCGC CACCATCACCATCACCTCCACCACCACCACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0103 a0001c0001t0006g0085 a0001c0001t0006g0214 a0001c0001t0005g0103 a0001c0001t0006g0085 a0001c0001t0006g0214	3	200	0.0150	480	c.804 others(497): Show c.804+4446_804+4447insTGTGGTGGTGGTGGAGGTGATGGTGATG GTGGCGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGA GATGGTGATGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAG TGGTGTTGAAGGAGATGGTGATGGTGGTGGAGGTGATGGTGATGGTGGTA GTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGTGGTGGA GGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGG TGATGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTG TTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGT GGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGG TGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATA AT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(473): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATAATATATATTATATTATATATAATATATTTTATATA ATATATAATATATATTATATTATATATAATATATTTTATATAATATATAA TATATATTATATTATATATAATATATTTTATATAATATATAATATATATT ATATTATATATAATATATTTTATATAATATATAATATATATTATATTATA TATAATATATTTTATATAATATATAATATATATTATATTATATATAATAT ATTTTATATAATATATAATATATATTATATTATATATAATATATTTTATA TAATATATAATATATATTATATTATATATAATATATTTTATATAATATAT AATATATATTATATTATATATAATATATTTTATATAATATATAATATATA TTATATTATATATAATATATTTTATATAATA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	251	0.0040	480	c.661 others(497): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATATTATATAAAATATATTATATATAA TATAATATATATTATATATTATATAAAATATATTATATATAATATAATAT ATATTATATATTATATAAAATATATTATATATAATATAATATATATTATA TATTATATAAAATATATTATATATAATATAATATATATTATATATTATAT ATAATATAATATATATTATATATTATATAAAATATATTATATATAATATA AT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IL32_chr16_3060640_3074530	3066910	C C	CGGCCCAC others(473): Show CGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC AGGCCCTGCTCTTGTGAGGAGGGGTCACCTA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0403 a0001c0001t0001g0403	1	391	0.0026	480	c.16- others(493): Show c.16-261_16-260insCGCAGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACG CAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGC TCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGG AGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACG CAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGC TCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGG AGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCA	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
INO80_chr15_40973880_41121280	41031591	G G	GAGGAAGG others(473): Show GAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGAA GGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG GAGGGAGGAAGGGAGGAAAGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGA AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGG GAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0273 a0001c0001t0013g0273	1	254	0.0039	480	c.290 others(499): Show c.2908-3856_2908-3855insTCCTCCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTTTCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTC CTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCTTTCCTCCCTTCCT CCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCT CCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTC CTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCT TCCT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INPP5A_chr10_132532787_132788480	132676951	C C	CAGACCCA others(473): Show CAGACCCACAGGTTTTCACATGGTGACCCCCACCATCACCCAGGCACCTG TCCTGAACTGTAGACCCACAGGTATTCACATGGTGACCCCCACCGTCACC CAGGCACCTGTCCTGAACTGTAGACCCACAGATATTCACATGGTGACCCC CACCGTCACCCAGGCACCTGTCCTGAACTGTAGACCCACAGGTATTCACA TGGTGACCCCCACCATCACCCAGGCACCTGTCCTGAACTGTAGACCCACA GATATTCACATGGTGACCCCCACCATCACCCAGGCACCTGTCCTGAACTG TAGACCCACAGGTATTCACATGGTGACCCCCACCGTCACCCAGGCATCTG TCCTCAACTGCAGACCCACAGGTTTTCACATGGTGACCCCCACCATCACC CAGGCACCTGTCCTGAACTGTAGACCCACAGGTATTCACATGGTGACCCC CACCGTCACCCAGGCACCTGTCCTGAACTGT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0078 a0001c0001t0014g0078	1	129	0.0078	480	c.307 others(499): Show c.307-13429_307-13428insTTTCACATGGTGACCCCCACCATCAC CCAGGCACCTGTCCTGAACTGTAGACCCACAGGTATTCACATGGTGACCC CCACCGTCACCCAGGCACCTGTCCTGAACTGTAGACCCACAGATATTCAC ATGGTGACCCCCACCGTCACCCAGGCACCTGTCCTGAACTGTAGACCCAC AGGTATTCACATGGTGACCCCCACCATCACCCAGGCACCTGTCCTGAACT GTAGACCCACAGATATTCACATGGTGACCCCCACCATCACCCAGGCACCT GTCCTGAACTGTAGACCCACAGGTATTCACATGGTGACCCCCACCGTCAC CCAGGCATCTGTCCTCAACTGCAGACCCACAGGTTTTCACATGGTGACCC CCACCATCACCCAGGCACCTGTCCTGAACTGTAGACCCACAGGTATTCAC ATGGTGACCCCCACCGTCACCCAGGCACCTGTCCTGAACTGTAGACCCAC AGGT	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IPCEF1_chr6_154149496_154361803	154354447	C C	CACCACCT others(473): Show CACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCA CCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCACC ACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCACCAC CTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCACCACCT CCACCATCGCCTCCACAACCACCTCCACCATCTCCTCCACCACCACCTCC ACCATCTCCTCCACCACCACCTCCACCATCGCCTCCACAACCACCTCCAC CATCTCCTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCA TCGCCTCCACAACCACCTCCACCATCTCCTCCACCACCACCTCCACCATC TCCTCCACCACCACCTCCACCATCGCCTCCACAACCACCTCCACCATCTC CTCCACCACCACCTCCACCATCTCCTCCACA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0152 a0001c0001t0006g0152	1	200	0.0050	480	c.-62 others(497): Show c.-62+2224_-62+2225insTGTGGAGGAGATGGTGGAGGTGGTGGTG GAGGAGATGGTGGAGGTGGTTGTGGAGGCGATGGTGGAGGTGGTGGTGGA GGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTTGTGGAGG CGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAG ATGGTGGAGGTGGTTGTGGAGGCGATGGTGGAGGTGGTGGTGGAGGAGAT GGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTTGTGGAGGCGATGG TGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTG GAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGA GGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGG TGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTG GT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IQCB1_chr3_121764761_121840060	121786170	C C	CGAAAAGA others(473): Show CGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp2 HG02622.hp1 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0267 a0001c0002t0004g0269 a0001c0002t0004g0267 a0001c0002t0004g0269	2	77	0.0260	480	c.127 others(499): Show c.1278+2113_1278+2114insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCT TTTC	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(473): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCA CCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACC TCCTCCTCCTCCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCCTCCTCCCCCCCTCCTCCTCCTCCTGCTCTCCCCCT CCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCC CCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCC CCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCT GTCTTCCTCCCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	11	0.0909	480	c.10- others(497): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCT CCCCCTCCCCCACCTCCTCCTCCTCCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCCTCCTCCTCCT CCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTC CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCC TCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCT CCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCT CC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK2_chr3_10159919_10248745	10224736	C C	CCATCCAC others(473): Show CCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACCC ATCCATCCACCCACCCACCTGTCCACCCATCCATCCACCCACCCACCCAC CCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCC ATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCAT CCACCCACCCACCCACCCACCCATCCACCCACCCACCTGTCCACCCATCC ATCCACCCACCCACCTGTCCACCCATCCATCCACCCACCCACCCACCCAT CCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCC ATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCACCCAC CCATCCACCCACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACCC ACCCACCCATCCATTTATCCACCTACCCACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0274 a0002c0002t0001g0274	1	216	0.0046	480	c.121 others(499): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCTGTCCACCCATCCA TCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATC CACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCA CCCACCCACCCACCCATCCACCCACCCACCCACCCACCCATCCACCCACC CACCTGTCCACCCATCCATCCACCCACCCACCTGTCCACCCATCCATCCA CCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACC CACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCA CCCACCCACCCACCCACCCATCCACCCACCCACCTGTCCACCCATGTACC CACCCTCCCACCAACCCACCCACCCATCCATTTATCCACCTACCCACACA TCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(473): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCC TTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCT CTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCC TCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCCCTCTC TCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCC CCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCC CTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTC CTTCCCTCTCTCTCTCTCCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCT TCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCT CCCTCTCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0108 a0004c0007t0001g0108	1	56	0.0179	480	c.11 others(501): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCCCCCT CCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCC CCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCC CCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCC CCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCC TCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCT CCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCCTCCTTCCCTCTCTCTCC CCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTC CCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCC CCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79808505	T T	TCGCTGAC others(473): Show TCGCTGACCACACTCCACGTTACGGGCCCAGAGTCCGCGCTCTGAGGAGC TGCCGGGGCCGCGCTGACCACACTCCACGTTACGGGCCCAGAGTCCGCGC TCTGAGGAGCTGCCGGGGACACGCTGACCACACTCCACGTTACGGGCCCA GAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGT TATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCTGACCA CACTCCACGTTACGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCC GCGCTGACCACACTCCACGTTACGGGCCCAGAGTCCGCGCCCTGAGGAGC TGCCGGGGCCGCGCTGACCACACTCCACGTTACGGTCCCAGAGTCCTCGC CCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTACGGGCCCA GAGTCCGCGCTCTGAGGAGCTGCCGGGGACA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	236	0.0042	480	c.-11 others(501): Show c.-115+10512_-115+10513insCGGGCCCAGAGTCCGCGCTCTGAG GAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTACGGGCCCAGAGTCC GCGCTCTGAGGAGCTGCCGGGGACACGCTGACCACACTCCACGTTACGGG CCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCC ACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCTG ACCACACTCCACGTTACGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGG GGCCGCGCTGACCACACTCCACGTTACGGGCCCAGAGTCCGCGCCCTGAG GAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTACGGTCCCAGAGTCC TCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTACGGG CCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACGCTGACCACACTCC ACGTTA	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(473): Show TAGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGCATGTGTATTCATGTGT GTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTATGTGTGT GTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGTGTGCAT GTATGGGCATGTGTGTATACCTGTGTGTATGTGTATTTGTGTTGCATGTG TGTATATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTACGTG TATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTATGTG TATGCATGTGTGTATGTGTGTGCATGTGTATGCATGTGTGTATGTGTGCA TGTGTATATATGTGTCTATGTACTTGTGTGTATGTGTATGCATGTGTGTG TACATGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCACGTGTG TGTATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02717.hp2 NA21309.hp2 HG01167.hp1 HG02717.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0001t0030 a0001c0002t0153 a0001c0001t0015 a0001c0001t0030 a0001c0002t0153	a0001c0001t0015g0167 a0001c0001t0030g0130 a0001c0002t0153g0096 a0001c0001t0015g0167 a0001c0001t0030g0130 a0001c0002t0153g0096	3	28	0.1071	480	c.946 others(497): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACACATGCATACACATACACACAAGTACATAGACACATATATAC ACATGCACACATACACACATGCATACACATGCACACACATACACACATGC ATACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAA ATACACGTACACACAGGTATACACATGCACATGTAAATACACACACATAT ACACACATGCAACACAAATACACATACACACAGGTATACACACATGCCCA TACATGCACACACATGCATACACATGCACACACAAATACATATACGTGTA TACACACACATACATGCACGCACGTGCATACACATGCACACACAAATATA CACACACATGAATACACATGCACACATACACACACACACACACACACACA CT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(473): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTGTGCATGTGTAT CCATGTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGT GTGTGTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGT GTGTGCATGTATGGGCATGTGTGTATACCTGTGTGTATTTGTGTTGCACG TGTGTATATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTACG TGTATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTATG TGTATGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATGTG TGCATGTGTATATATGTCTATGTACTTGTGTGTATGTGTATGCATGTGTG TACATGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCACGTGTG TGTATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01168.hp1 HG01358.hp2 others(3): Show HG00558.hp1 HG01168.hp1 HG01358.hp2 HG02738.hp1 NA19001.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0048 a0001c0001t0055 others(3): Show a0001c0001t0035 a0001c0001t0048 a0001c0001t0055 a0001c0001t0071 a0001c0001t0108 a0001c0001t0109	a0001c0001t0035g0119 a0001c0001t0048g0030 a0001c0001t0055g0173 others(3): Show a0001c0001t0035g0119 a0001c0001t0048g0030 a0001c0001t0055g0173 a0001c0001t0071g0059 a0001c0001t0108g0092 a0001c0001t0109g0087	6	31	0.1935	480	c.946 others(497): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACATGCATACACATACACACAAGTACATAGACATATATACACAT GCACACATACACACATGCATACACATATGCACACACATACACACATGCAT ACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAAAT ACACGTACACACAGGTATACACATGCACATGTAAATACACACACATATAC ACACGTGCAACACAAATACACACAGGTATACACACATGCCCATACATGCA CACACATGCATACACATGCACACACAAATACATATACGTGTATACACACA CACACATGCACGCACGTGCATACACATGCACACACAAATATACACACACA TGGATACACATGCACACATATACACACACACACACACACACACACACACA CT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(473): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGCATGTGTATCC ATGTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTAT GTGTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGT GTGCATGTATGGGCATGTGTGTATACCTGTGTGTATTTGTGTTGCATGTG TGTATATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTACGTG TATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTATGTG TATGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATGTGTG CATGTGTATATATGTGTCTATGTACTTGTGTGTATGTGTATGCATGTGTG TACATGTATGTATACGTGTGTATTTGTGTGTACATGTGTATGCACGTGTG TGTATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0163 a0001c0002t0163	a0001c0002t0163g0154 a0001c0002t0163g0154	1	26	0.0385	480	c.946 others(497): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGTACACACAAATACACACGTATACATACAT GTACACACATGCATACACATACACACAAGTACATAGACACATATATACAC ATGCACACATACACACATGCATACACATATGCACACACATACACACATGC ATACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAA ATACACGTACACACAGGTATACACATGCACATGTAAATACACACACATAT ACACACATGCAACACAAATACACACAGGTATACACACATGCCCATACATG CACACACATGCATACACATGCACACACAAATACATATACGTGTATACACA CACATACATGCACGCACGTGCATACACATGCACACACAAATATACACACA CATGGATACACATGCACACATACACACACACACACACACACACACACACA CT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(473): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGCATGTGTATCC ATGTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTAT GTGTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGT GTGCATGTATGGGCATGTGTGTATACCTGTGTGTATTTGTGTTGCATGTG TGTATATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTACGTG TATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTATGTG TATGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATGTGTG CATGTGTATATATGTGTCTATGTACTTGTGTGTATGTGTATGCATGTGTG TACATGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCACGTGTG TGTATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02717.hp1 others(2): Show HG02280.hp2 HG02559.hp1 HG02717.hp1 HG02965.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0024 others(1): Show a0001c0001t0001 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025	a0001c0001t0001g0020 a0001c0001t0001g0132 a0001c0001t0023g0143 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0132 a0001c0001t0023g0143 a0001c0001t0024g0097 a0001c0001t0025g0161	5	30	0.1667	480	c.946 others(497): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACATGCATACACATACACACAAGTACATAGACACATATATACAC ATGCACACATACACACATGCATACACATATGCACACACATACACACATGC ATACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAA ATACACGTACACACAGGTATACACATGCACATGTAAATACACACACATAT ACACACATGCAACACAAATACACACAGGTATACACACATGCCCATACATG CACACACATGCATACACATGCACACACAAATACATATACGTGTATACACA CACATACATGCACGCACGTGCATACACATGCACACACAAATATACACACA CATGGATACACATGCACACATACACACACACACACACACACACACACACA CT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(473): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTGTGCATGTGT ATCCATGTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCAT GTATGTGTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCAT GTGTGTGCATGTATGGGCATGTGTGTATACCTGTGTGTATTTGTGTTGCA TGTGTGTATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTACG TGTATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTATG TGTATGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTATGTGTG CATGTGTATATATGTGTCTATGTACTTGTGTGTATGTGTATGCATGTGTG TACATGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCACGTGTG TGTATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00609.hp2 others(17): Show HG00438.hp2 HG00558.hp2 HG00609.hp2 HG01106.hp2 HG01433.hp1 HG02040.hp2 HG02083.hp2 HG02132.hp1 HG02165.hp2 HG03017.hp2 HG04204.hp2 NA18939.hp2 NA18944.hp2 NA18957.hp1 NA18963.hp2 NA19000.hp1 NA19001.hp1 NA19012.hp1 NA19062.hp1 NA19064.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0054 a0001c0003t0074 a0001c0003t0102 others(17): Show a0001c0003t0054 a0001c0003t0074 a0001c0003t0102 a0001c0003t0113 a0001c0003t0116 a0001c0003t0119 a0001c0003t0120 a0001c0003t0122 a0001c0003t0123 a0001c0003t0125 a0001c0003t0127 a0001c0003t0129 a0001c0003t0130 a0001c0003t0131 a0001c0003t0132 a0001c0003t0133 a0001c0003t0134 a0001c0003t0136 a0001c0003t0137 a0001c0004t0018	a0001c0003t0054g0005 a0001c0003t0074g0112 a0001c0003t0102g0064 others(17): Show a0001c0003t0054g0005 a0001c0003t0074g0112 a0001c0003t0102g0064 a0001c0003t0113g0078 a0001c0003t0116g0116 a0001c0003t0119g0121 a0001c0003t0120g0177 a0001c0003t0122g0027 a0001c0003t0123g0125 a0001c0003t0125g0079 a0001c0003t0127g0035 a0001c0003t0129g0114 a0001c0003t0130g0036 a0001c0003t0131g0153 a0001c0003t0132g0185 a0001c0003t0133g0013 a0001c0003t0134g0181 a0001c0003t0136g0028 a0001c0003t0137g0122 a0001c0004t0018g0186	20	45	0.4444	480	c.946 others(497): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACATGCATACACATACACACAAGTACATAGACACATATATACAC ATGCACACATACACATGCATACACATATGCACACACATACACACATGCAT ACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAAAT ACACGTACACACAGGTATACACATGCACATGTAAATACACACACATACAC ACATGCAACACAAATACACACAGGTATACACACATGCCCATACATGCACA CACATGCATACACATGCACACACAAATACATATACGTGTATACACACACA TACATGCACGCACGTGCATACACATGCACACACAAATATACACACACATG GATACACATGCACACATATACACACACACACACACACACACACACACACA CT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KIF17_chr1_20659014_20723007	20712823	G G	GATATTAT others(473): Show GATATTATCTATATTATAGATATTATCTATATTATAGATATAGATATTAT CTATATTATAGATATTATCTATATTATAGCTATAGATATTATCTATATCT ATAATATAGATAATATCTATATCTATAATATAGATAATATTATCTATATC TATAATATAGATATTATCTATATCTATAATATAGATAATATTATCTATAT CTATAATATAGATAATATTATCTATATCTATAATATAGATAATATTATCT ATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAATATT ATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAA TATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAG ATAATATTATCTATATTATAATATAGATAATATTATCTATATTATAATAT AGATAATATTATCTATATTATAATATAGATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02145.hp2 HG01106.hp1 HG02145.hp2	a0013 a0013	a0013c0044 a0013c0044	a0013c0044t0001 a0013c0044t0001	a0013c0044t0001g0272 a0013c0044t0001g0277 a0013c0044t0001g0272 a0013c0044t0001g0277	2	410	0.0049	480	c.480 others(495): Show c.480+630_480+631insTATCTATATTATAATATAGATAATATTATC TATATTATAATATAGATAATATTATCTATATTATAATATAGATAATATTA TCTATATTATAGATATAGATAATATTATCTATATTATAGATATAGATAAT ATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATAGA TAATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATA TAGATAATATTATCTATATTATAGATATAGATAATATTATCTATATTATA GATATAGATAATATTATCTATATTATAGATATAGATAATATCTATATTAT AGATATAGATAATATTATCTATATTATAGATATAGATATTATCTATATTA TAGATATAGATAATATCTATAGCTATAATATAGATAATATCTATAATATA GATAATATCTATATCTATAATATAGATAATATCTATAATATAGATAATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(473): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCC TCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	77	0.0130	480	c.-27 others(491): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LARS1_chr5_146108034_146187650	146174505	T T	TATATATA others(473): Show TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATCCATATATATATATCCATATATATATCCATATATA TATCCATATATATATATCCATATATATATCCATATATATATATCCATATA TATATCCATATATATATATCCATATATATGGATATATATATATCCATATA TATCTATCCATATATATATCCATATATATCTATCCATATATATATCCATA TATCTATCCATATATATATCCATATATATATATCCATATATATATATATC CATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATCC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0236 a0002c0002t0002g0236	1	157	0.0064	480	c.126 others(497): Show c.126-1732_126-1731insGGATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATATGGATATATATATATGGATAT ATATATATATGGATATATATATATATGGATATATATATATGGATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATGGATAG ATATATGGATATATATATGGATAGATATATATGGATATATATATGGATAG ATATATATGGATATATATATATCCATATATATGGATATATATATATGGAT ATATATATGGATATATATATATGGATATATATATGGATATATATATATGG ATATATATATGGATATATATATGGATATATATATATGGATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT AT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCGGT others(473): Show CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCAG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGGTGC CCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGGTGCC CGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTT ACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0011 a0001c0010t0001g0011	1	88	0.0114	480	c.171 others(497): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACTGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCAC CGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCG GGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCG GGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGG GG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGGGGA others(473): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0001 a0001c0001t0042g0001	1	303	0.0033	480	c.-43 others(491): Show c.-4362_-4361insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4200		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGTGCA others(473): Show CGTGTGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGGAGTGAGGAGGGGT CGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGT GAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGC GGTGGGGAGAGAGGAGGGGTCGGCGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	303	0.0033	480	c.-43 others(491): Show c.-4362_-4361insGTGTGCAGTGGGGAGTGAGGAGGGGTCGGCGTGG GGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCG TGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGA GGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGA GGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCG	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4200		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(473): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	1	220	0.0045	480	c.-43 others(491): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC27_chr10_132327193_132386508	132364445	A A	ACACTCGC others(473): Show ACACTCGCACTTACACCCACCCACACTTACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCC ACACTTACACTCATGCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	252	0.0040	480	c.129 others(497): Show c.1290-976_1290-975insTCGCACTTACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTT ACATCTACCTCCACGCCCACACTTACACTCATGCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACCCACACTTACACCCAC GCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC AC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC74A_chr14_76821408_76875304	76866963	T T	TTGGGGAG others(473): Show TTGGGGAGGTGGGGTGTGTGTGTGGTAGTGTGGGGGTGTGTGTGTTGGGG GTGGGGTGTGTGTGTGCGTGTGGTAGTGTGTGTGTGGGGTGTGTGGGTGT GTTGGGGGGTGGGGTGTGTGTGTGTGTGGGGTGTGTGTTGGGGGGTGGGG TGTGTGTTGGGGGGTGGGGTGTGTGTGTGGGGGGGTGTGTGTTGGGGGGA TGGGGTGTGTGTGTGGTAGTGTGGGGGGGTGTGTGTGTTGGGGGTGGGGT GTGTGGTAGTGTGTGTGGGGGAGTGTGTGTGTTGGGGGGTGGGGTGTGTG TGTGTGTGGTAGTGTGTGTGGGGTGTGTGGGTGTGTTGGGGGGTGGGGTG TGTGTGTGTGGGGGGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGT GTGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGG GGTGTGTGTGTGTGTGGTAGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	294	0.0034	480	c.130 others(497): Show c.1309-393_1309-392insTGGGGAGGTGGGGTGTGTGTGTGGTAGT GTGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTGCGTGTGGTAGTGT GTGTGTGGGGTGTGTGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGG GGTGTGTGTTGGGGGGTGGGGTGTGTGTTGGGGGGTGGGGTGTGTGTGTG GGGGGGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGTGTGGGGGGG TGTGTGTGTTGGGGGTGGGGTGTGTGGTAGTGTGTGTGGGGGAGTGTGTG TGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTGTG GGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGGGGGGTGTGTGTTGGGGGG ATGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTGG GGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGT GG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13			chr14	TogoVar
LUC7L_chr16_183990_234449	186289	G G	GGAGGAAC others(473): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGAGGGAGGAACAG CGACACGGGAGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	291	0.0034	480	c.29 others(491): Show c.2908_*2909insTCCCTCCCGTGTCGCTGTTCCTCCCGTGTCGCTG TTCCTCCCTCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGC TGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2700		chr16	TogoVar
LUZP2_chr11_24492053_25087638	24602247	T T	TATATGTA others(473): Show TATATGTACATATATGTGTATATATGTATATATGTACATATATGTATATA TGTATATATGTACATATATGTGTATATATGTATATATATGCAAACATATA TGTGCATATATGTGTATATATGCAAACATATATGTGTATATATGTATATA TATGCAAACATATATGTACATACATATATACACACATATATATGTACATA CATATATACACACATATATATGTACATACATATATACACACATATATATG TACATACATATATACACACATATATATGTACATACATATATACACACATA TATATGTACATACATATATACACACATATATATGTACATACATATATACA CACATATATATGTACATACATATATACACACATATATATGTACATACATA TATGCACACATATATATGTACATACATATATGCACACATATATATGTACA TACATATATGCACACATATATATGTACATAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0053 a0001c0001t0034g0053	1	85	0.0118	480	c.62+ others(499): Show c.62+104946_62+104947insGTACATATATGTGTATATATGTATAT ATGTACATATATGTATATATGTATATATGTACATATATGTGTATATATGT ATATATATGCAAACATATATGTGCATATATGTGTATATATGCAAACATAT ATGTGTATATATGTATATATATGCAAACATATATGTACATACATATATAC ACACATATATATGTACATACATATATACACACATATATATGTACATACAT ATATACACACATATATATGTACATACATATATACACACATATATATGTAC ATACATATATACACACATATATATGTACATACATATATACACACATATAT ATGTACATACATATATACACACATATATATGTACATACATATATACACAC ATATATATGTACATACATATATGCACACATATATATGTACATACATATAT GCACACATATATATGTACATACATATATGCACACATATATATGTACATAC ATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24602247	T T	TATATGTA others(473): Show TATATGTACATATATGTGTATATATGTATATATGTACATATATGTATATA TGTATATATGTACATATATGTGTATATATGTATATATATGCAAACATATA TGTGTATATATGTGTATATATGCAAACATATATGTGTATATATGTATATA TATGCAAACATATATGTACATACATATATACACACATATATATGTACATA CATATATACACACATATATATGTACATACATATATACACACATATATATG TACATACATATATACACACATATATATGTACATACATATATACACACATA TATATGTACATACATATATACACACATATATATGTACATACATATATACA CACATATATATGTACATACATATATACACACATATATATGTACATACATA TATGCACACATATATATGTACATACATATATGCACACATATATATGTACA TACATATATGCACACATATATATGTACATAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03486.hp1 HG03225.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0041 a0001c0001t0003g0042	2	86	0.0233	480	c.62+ others(499): Show c.62+104946_62+104947insGTACATATATGTGTATATATGTATAT ATGTACATATATGTATATATGTATATATGTACATATATGTGTATATATGT ATATATATGCAAACATATATGTGTATATATGTGTATATATGCAAACATAT ATGTGTATATATGTATATATATGCAAACATATATGTACATACATATATAC ACACATATATATGTACATACATATATACACACATATATATGTACATACAT ATATACACACATATATATGTACATACATATATACACACATATATATGTAC ATACATATATACACACATATATATGTACATACATATATACACACATATAT ATGTACATACATATATACACACATATATATGTACATACATATATACACAC ATATATATGTACATACATATATGCACACATATATATGTACATACATATAT GCACACATATATATGTACATACATATATGCACACATATATATGTACATAC ATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar

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