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
NSMCE1_chr16_27219994_27273772	27246963	T T	TAAAACTC others(353): Show TAAAACTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCT GGCTAACACGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCAGTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAACAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03041.hp1 HG02895.hp1 HG03041.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0143 a0003c0004t0001g0145 a0003c0004t0001g0143 a0003c0004t0001g0145	2	334	0.0060	360	c.136 others(379): Show c.136+10471_136+10472insTTTTTTTGTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGG CGCGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCC CGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTAGGAGTTTT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NSMCE2_chr8_125086860_125372120	125327684	T T	TAAAAGTA others(353): Show TAAAAGTAAGATTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGTAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18955.hp2 NA19003.hp2 others(1): Show HG01255.hp2 NA18955.hp2 NA19003.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0192 others(1): Show a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0192 a0001c0001t0001g0207	4	244	0.0164	360	c.419 others(379): Show c.419-29521_419-29520insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGTAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAGTAAGATTTC	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMF_chr9_137442570_137464334	137450550	T T	TTTGATCT others(353): Show TTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATCTCCCCCACCACAC GCCTCTTCCCCTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATCTCC CCCACCACACGCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCTTCCC TTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATCTCCCCCACCACAC GCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATCTCC CCCACCACACGCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCTTCCC TTTGATTTCCCCCACCACACGCCTCTTCCCTTTGATCTCCCCCACCACAC GCCTCTTCCCC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	414	0.0024	360	c.123 others(377): Show c.1237-296_1237-295insGGGGAAGAGGCGTGTGGTGGGGGAGATC AAAGGGAAGAGGCGTGTGGTGGGGGAAATCAAAGGGAAGAGGCGTGTGGT GGGGGAGATCAAAGGGAAGAGGCGTGTGGTGGGGGAGATCAAAGGGAAGA GGCGTGTGGTGGGGGAGATCAAAGGGAAGAGGCGTGTGGTGGGGGAGATC AAAGGGAAGAGGCGTGTGGTGGGGGAGATCAAAGGGAAGAGGCGTGTGGT GGGGGAGATCAAAGGGAAGAGGCGTGTGGTGGGGGAGATCAAAGGGAAGA GGCGTGTGGTGGGGGAGATCAAGGGGAAGAGGCGTGTGGTGGGGGAGATC AAAGGGAAGAGGCGTGTGGTGGGGGAGATCAA	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(353): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTT CCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCC TTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCC CCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTT CCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCC CCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0257 a0001c0001t0050g0257	1	326	0.0031	360	c.433 others(377): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGG AAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGG GAGGGGGGGAGGGTGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NTM_chr11_131365615_132341822	131681096	T T	TGAGATCA others(353): Show TGAGATCATGTCTGTGTCTGTGAGTGCCTGTGTGTGTCTGTGTAGGCATG TGTGCCTCTGTATCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGGGAG TGCCTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTCTGTGTAGGCATGTG TGCCTCTGTGTCTGTGTGTGAGATCATGTCTGTGTCTGTGTCTGTGAGTG CCTGTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTGTGAGATCA TGCCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGCATATGTTTGTG TAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTATGTCTATG TCTGTGAGTGC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	86	0.0116	360	c.83- others(379): Show c.83-230468_83-230467insGAGATCATGTCTGTGTCTGTGAGTGC CTGTGTGTGTCTGTGTAGGCATGTGTGCCTCTGTATCTGTGTGTGAGATC ATGCCTGTGTCTGTGTCTGGGAGTGCCTGTGTGTTTGTGTGTGTGTGTGT GTGTGTGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCAT GTCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGCGTCTGTGTAGGCAT GTGTGCCTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCCT GTGTGTGTGTGCATATGTTTGTGTAGGCATGTGTGCCTCTGTGTCTGTGT GTGAGATCATGCCTATGTCTATGTCTGTGAGTGC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8			chr11	TogoVar
NTN5_chr19_48656407_48678017	48669576	T T	TCACCACC others(353): Show TCACCACCACCACCACCACGACCACCATCACCACCACCACCATCATCACC ACCATCACCACCACCATCATCACCATCACCACCACCAACACCACCACCAT CACCATCATCACCACCATCACCACCACCATCATCACCATCACCACCATCA CCACCACCACCACCATCACCATCACCACCACCATCACCATCACCACCACC ACCATCACCACCACCACCACCATCACCACCATGACCACCATCATCACCAC CATCACCACCATCACCATCACCACCACCACGACCATCATCACCACCACCA CCATCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACC ATCACCACCAC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18998.hp1 NA19011.hp2 NA18960.hp1 NA18998.hp1 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	3	412	0.0073	360	c.631 others(375): Show c.631+779_631+780insGTGGTGGTGATGGTGGTGATGGTGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGATGGT CGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGATGATGGTGGTCA TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATG GTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGAT GATGGTGGTGGTGATGGTGGTGATGATGGTGATGGTGGTGGTGTTGGTGG TGGTGATGGTGATGATGGTGGTGGTGATGGTGGTGATGATGGTGGTGGTG GTGATGGTGGTCGTGGTGGTGGTGGTGGTG	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
NUP93_chr16_56725129_56855286	56739578	A A	ACACCCCC others(353): Show ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGTGGGGGGGCTGACTCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTGACATCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGG GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGC GGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0154 a0001c0001t0043g0154	1	378	0.0027	360	c.-14 others(377): Show c.-14-8655_-14-8654insACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGTGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCCACCTCCCTCCCG GACGGGGTGGCTGGCCGGGCGGGGGGCTGACC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	948939	T T	TGCCTCCT others(353): Show TGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTC CTCCTCTCCCCGCGGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCGCGGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCGCGGCC TCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCC CGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTC CTCTCCCCGCG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	242	0.0041	360	c.360 others(379): Show c.360+30379_360+30380insCGCGGGGAGAGGAGGAGGCCGCGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGC CGCGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCCGCGGGGAGAGG AGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGG GGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAG GCCGCGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCCGCGGGGAGA GGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGG GGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(353): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTG CTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	438	0.0023	360	c.-29 others(375): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATAATA ATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(353): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTG CTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18983.hp1 NA18970.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	2	438	0.0046	360	c.-29 others(375): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATA ATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(353): Show ACTGAATGTACATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTG CTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0089 a0002c0002t0003g0089	1	438	0.0023	360	c.-29 others(375): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OTOF_chr2_26452203_26563756	26476613	T T	TCCCCACC others(353): Show TCCCCACCCCCTTCCCCCACCCCTTCCCCCACCTCCCTTTCCCCACCCCT TCCCCCCACATCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTT CCCCCAACCTCCTTCCCCAGCCCTTCCCCCACCTCCTTCCCCACCCCTTC CCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCCCCCACCCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTCCTT CCCCACCCCTTCCCCCACGTCCCTTCCCCACCCCTTCCCCCCCACCTCCT TCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0035 a0035	a0035c0078 a0035c0078	a0035c0078t0001 a0035c0078t0001	a0035c0078t0001g0138 a0035c0078t0001g0138	1	284	0.0035	360	c.267 others(377): Show c.2676+277_2676+278insGAAGGGGTGGGGAAGGAGGTGGGGGAAG GGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGGGAAG GGGTGGGGAAGGGACGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGG GGTGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGGTGGGGGGGGGAA GGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGA GGTGGGGGAAGGGCTGGGGAAGGAGGTTGGGGGAAGGGGTGGGGAAGGAG GTGGGGGAAGGGGTGGGGAAGGATGTGGGGGGAAGGGGTGGGGAAAGGGA GGTGGGGGAAGGGGTGGGGGAAGGGGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
OTOG_chr11_17542259_17651044	17552528	C C	CTCCCCCA others(353): Show CTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTC CTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACC TGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCC CACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGT CCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCT GTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTG TCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCA CCTGTCCTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03209.hp1 NA19030.hp1 HG03139.hp2 HG03209.hp1 NA19030.hp1	a0006 a0084 a0094 a0006 a0084 a0094	a0006c0144 a0084c0145 a0094c0138 a0006c0144 a0084c0145 a0094c0138	a0006c0144t0001 a0084c0145t0001 a0094c0138t0002 a0006c0144t0001 a0084c0145t0001 a0094c0138t0002	a0006c0144t0001g0255 a0084c0145t0001g0254 a0094c0138t0002g0256 a0006c0144t0001g0255 a0084c0145t0001g0254 a0094c0138t0002g0256	3	268	0.0112	360	c.293 others(375): Show c.293-515_293-514insTCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(353): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0161 a0001c0003t0001g0161	1	268	0.0037	360	c.292 others(375): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTC ACCTGTACTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(353): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18989.hp2 NA19000.hp2 others(1): Show NA18967.hp1 NA18989.hp2 NA19000.hp2 NA19064.hp2	a0001 a0114 a0001 a0114	a0001c0003 a0114c0061 a0001c0003 a0114c0061	a0001c0003t0001 a0114c0061t0001 a0001c0003t0001 a0114c0061t0001	a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0165 others(1): Show a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0165 a0114c0061t0001g0166	4	268	0.0149	360	c.292 others(375): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(353): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCT CCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCTCCTCCCC TCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCCCCCTCCTCC CCCCTCCTCCCCTCCCCCTCCTCCCCCCTCTCCCCCTCCCCTCCCCCTTC CCTCCCCCTCCCCTCCCCCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCA CTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTTCCCCTCCCCT CCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0223 a0001c0001t0027g0223	1	308	0.0033	360	c.226 others(379): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCCTCCCC TCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCT CCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCT CCCCTCCCCCTCCTCCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCTCCC CCTCCCCTCCCCCTTCCCTCCCCCTCCCCTCCCCCTTCCCTCCCCCTCCC CTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCT CCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PCBP3_chr21_45638725_45947450	45746360	T T	TTGTCAGC others(353): Show TTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCA GTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCA TTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGAC GTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGC GCACACGGTGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02735.hp2 others(3): Show HG02258.hp2 HG02280.hp2 HG02735.hp2 HG03471.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0088 others(3): Show a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0088 a0001c0001t0003g0007 a0001c0001t0003g0094 a0001c0001t0003g0095	6	292	0.0206	360	c.-16 others(379): Show c.-161-9013_-161-9012insTTGTCAGCATCGCCGTGTCAGTCCAT TGACGTAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCG CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCATTGACGTAGCGCACACGGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746360	T T	TTGTCAGC others(353): Show TTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCA GTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCA TTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGAC GTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGC GCACACGGTGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02165.hp2 HG02486.hp1 others(5): Show HG01261.hp1 HG02165.hp2 HG02486.hp1 HG02602.hp1 HG03710.hp2 HG03942.hp2 HG04199.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 others(5): Show a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0066 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0003g0036 a0001c0001t0003g0063	8	292	0.0274	360	c.-16 others(379): Show c.-161-9013_-161-9012insTTGTCAGCATCGCCGTGTCAGTCCAT TGACGTAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCG CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCATTGACGTAGCGCACACGGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(353): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	436	0.0023	360	c.-26 others(371): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATATGTCTATCTATAGA TAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(353): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	360	c.-26 others(371): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(353): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	360	c.-26 others(371): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCGF3_chr4_700832_775089	708006	C C	CCTGTTTT others(353): Show CCTGTTTTCACCCGGGGGTCGGGACCCTGAGACAGCTCTGTTTTCCCCTG GGGGCCGGGACCCTGAGACAGCTCTGTTTTCACCTGGGGGCCGGGACCCT GGGACAGCCCTGTTTTCACCTGGGGGTCGGGACCCTGAGACAGCTCTGTT TTCACCTGGGGGCCGGGACCCTGGGACAGCCCTGTTTTCACCCGGGGGTC GGGACCCTGAGACAGCTCTGTTTTCCCCTGGGGGCCGGGACCCTGAGACA GCTCTGTTTTCCCCTGGGGGCCGGGACCCTGGGACAGCCCTGTTTTCACC CGGGGGTCGGGACCCTGAGACAGCTCTGTTTTCCCCTGGGGGCCGGGACC CTGAGACAGCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0075 a0001c0001t0063g0075	1	366	0.0027	360	c.-19 others(379): Show c.-190+2044_-190+2045insACCCGGGGGTCGGGACCCTGAGACAG CTCTGTTTTCCCCTGGGGGCCGGGACCCTGAGACAGCTCTGTTTTCACCT GGGGGCCGGGACCCTGGGACAGCCCTGTTTTCACCTGGGGGTCGGGACCC TGAGACAGCTCTGTTTTCACCTGGGGGCCGGGACCCTGGGACAGCCCTGT TTTCACCCGGGGGTCGGGACCCTGAGACAGCTCTGTTTTCCCCTGGGGGC CGGGACCCTGAGACAGCTCTGTTTTCCCCTGGGGGCCGGGACCCTGGGAC AGCCCTGTTTTCACCCGGGGGTCGGGACCCTGAGACAGCTCTGTTTTCCC CTGGGGGCCGGGACCCTGAGACAGCTCTGTTTTC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCNT_chr21_46319156_46450769	46413135	G G	GAGGCCCA others(353): Show GAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCG GGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGT GTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCG GCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGC TGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCC CGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCAC GAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCG GGGAAGGCACA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0132 a0003c0003t0001g0132	1	332	0.0030	360	c.615 others(377): Show c.6150+202_6150+203insAAGGCCCACCCGGGAGAGGCTGGACACG CGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAG GCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCA CCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGC GCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAG CGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAG GTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACG CGGCAGCAAGGTGTGGGGAGCGGGGAAGGCAC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413142	A A	ACCCGGGA others(353): Show ACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGG CACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACAC GCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGA GGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCC ACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGG CGCGAGGTCCC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0058 a0058	a0058c0044 a0058c0044	a0058c0044t0001 a0058c0044t0001	a0058c0044t0001g0049 a0058c0044t0001g0049	1	332	0.0030	360	c.615 others(377): Show c.6150+202_6150+203insAAGGCCCACCCGGGAGAGGCTGGACACG CGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAG GCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCA CCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGC GCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAG CGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAG GTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACG CGGCAGCAAGGTGTGGGGAGCGGGGAAGGCAC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413142	A A	ACCCGGGA others(353): Show ACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGG CGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACAC GCAGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGA GGCTGGACACGCAGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCC ACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGG CGCGAGGTCCC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18967.hp1 NA19056.hp2 NA18953.hp1 NA18967.hp1 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0183 a0002c0002t0001g0214 a0002c0002t0001g0146 a0002c0002t0001g0183 a0002c0002t0001g0214	3	332	0.0090	360	c.615 others(377): Show c.6150+200_6150+201insGCGAGGTCCCCCCGGGAGAGGCTGGACA CGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAG AGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCC CACCCGGGAGAGGCTGGACACGCAGCAGCAAGGTGTGGGGAGCGGGGAAG GCACGAGGCCCACCCGGGAGAGGCTGGACACGCAGCAGCAAGGTGTGGGG AGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCA AGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACA CGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDCD6_chr5_266646_319974	293374	A A	ATGTCAGA others(353): Show ATGTCAGAGACGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGG GAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGA CGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACG AGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGACGGAGAAAGG TATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGGG AGCTGCAAACGCCCGCGATACTGTCAGAGACGGAGAAAGGTATGACAGGA AGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGCAAAC GCCCGCGATAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	360	0.0028	360	c.164 others(379): Show c.164-10794_164-10793insCGGAGAAAGGTATGACAGGAAGAGCA GATCAAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGC GATACTGTCAGAGACGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAG ACGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCA GAGACGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAG CACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGACGGAGA AAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACGAGGCAC TGGGAGCTGCAAACGCCCGCGATACTGTCAGAGA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	293974	A A	AGGCACTG others(353): Show AGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGATGGAGAAAGG TATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGGG AGCTGCAAACGCCCGCGATACTGTCAGAGATGGAGAAAGGTATGACAGGA AGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGCAAAC GCCCGCGATACTGTCAGAGATGGAGAAAGGTATGACAGGAAGAGCAGATC AAGAAGATGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGCGATA CTGTCAGAGATGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGG GAACAGCATGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02145.hp2 HG02258.hp2 others(16): Show HG01261.hp2 HG02145.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 others(16): Show a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0003g0070	19	360	0.0528	360	c.164 others(379): Show c.164-10164_164-10163insTGGAGAAAGGTATGACAGGAAGAGCA GATCAAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGC GATACTGTCAGAGATGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAG ACGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCA GAGATGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGATGGGAACAG CACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGATGGAGA AAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCATGGGGCAC TGGGAGCTGCAAACGCCCGCGATACTGTCAGAGA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(353): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTATTCTGAAAAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0114 a0001c0004t0004g0114	1	262	0.0038	360	c.129 others(377): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTTTTCAGAATAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(353): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTATTCTGAAAAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCAGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01516.hp2 HG03239.hp1 others(2): Show HG00408.hp1 HG01516.hp2 HG03239.hp1 NA18961.hp2 NA19005.hp2	a0001 a0001	a0001c0004 a0001c0021 a0001c0004 a0001c0021	a0001c0004t0001 a0001c0004t0002 a0001c0021t0001 a0001c0004t0001 a0001c0004t0002 a0001c0021t0001	a0001c0004t0001g0031 a0001c0004t0001g0166 a0001c0004t0001g0178 others(2): Show a0001c0004t0001g0031 a0001c0004t0001g0166 a0001c0004t0001g0178 a0001c0004t0002g0032 a0001c0021t0001g0100	5	262	0.0191	360	c.129 others(377): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTTTTCAGAATAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(353): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTATTCTGAAAAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18988.hp1 NA18964.hp2 NA18988.hp1	a0001 a0001	a0001c0004 a0001c0022 a0001c0004 a0001c0022	a0001c0004t0002 a0001c0022t0002 a0001c0004t0002 a0001c0022t0002	a0001c0004t0002g0163 a0001c0022t0002g0087 a0001c0004t0002g0163 a0001c0022t0002g0087	2	262	0.0076	360	c.129 others(377): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTTTTCAG AATAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(353): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTATTCTGAAAAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0036 a0001c0004t0001g0036	1	262	0.0038	360	c.129 others(377): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTTTTCAG AATAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CTCCTACC others(353): Show CTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCA CCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCT CACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCT CTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGG CTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCC GGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	376	0.0027	360	c.15 others(371): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCAGGGGTAGGGGGTG AGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAGGTG AGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGGA	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(353): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGT GTGTGTGTGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCTA GCCTGGCACCG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0313 a0001c0002t0002g0313	1	408	0.0025	360	c.-10 others(377): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGT GCCCGTGTGTGTGTGTGTGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTG TGTCTGGCTAGCCTGGCACCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PITPNM3_chr17_6446263_6561555	6561364	C C	CCCCCTTC others(353): Show CCCCCTTCCTCCTCCTCCTCTTCCTCCTCCTTCTCCTCTTCCTCCTCCTA GTCCTCCTCCTCCTCCCCTCCTCCTCTTCCTCCTCCTCCTTCTCATTATC CTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCTCCTTTT CTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTTCTT CCTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTTCCT CCTCCTCCGCCCCCTCTTCCTCCTTCTCCTCATCCTCCTTCCCTCCTCTT CCTCCTTTTCCTCCTTCTCCTCCCCTCTTCCTCCTCTTCCTCCTCCTCCT CCCCTCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03453.hp2 NA18906.hp2 HG01884.hp1 HG03453.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0010 a0001c0001t0026 a0002c0004t0024 a0001c0001t0010 a0001c0001t0026 a0002c0004t0024	a0001c0001t0010g0147 a0001c0001t0026g0148 a0002c0004t0024g0197 a0001c0001t0010g0147 a0001c0001t0026g0148 a0002c0004t0024g0197	3	218	0.0138	360	c.-49 others(371): Show c.-4959_-4958insAGGAGGAGGGGAGGAGGAGGAGGAAGAGGAGGAA GAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGGAAGGAGGATGAGG AGAAGGAGGAAGAGGGGGCGGAGGAGGAGGAAGAGGAGAAGAAAGAGGAG GAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGAAGAAGAGAAG GAGGAGGAAAAGGAGAAGAAGGAGGAGAAAAGGAGGAGGAGAAGGAAGAG GAGGAGAAGGGAGAGAATGAGAAGGAGGATAATGAGAAGGAGGAGGAGGA AGAGGAGGAGGGGAGGAGGAGGAGGACTAGGAGGAGGAAGAGGAGAAGGA GGAGGAAGAGGAGGAGGAGGAAGGGG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4810		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561364	C C	CCCCCTTC others(353): Show CCCCCTTCCTCCTCCTCCTCTTCCTCCTCCTTCTCCTCTTCCTCCTCCTA GTCCTCCTCCTCCTCCCCTCCTCTTCTTCCTCCTCCTCCTTCTCATTATC CTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCTCCTTTT CTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTTCTT CCTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTTCCT CCTCCTCCGCCCCCTCTTCCTCCTTCTCCTCATCCTCCTTCCCTCCTCTT CCTCCTTTTCCTCCTTCTCCTCCCCTCTTCCTCCTCTTCCTCCTCCTCCT CCCCTCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG02630.hp2 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0015 a0002c0004t0039 a0001c0001t0015 a0002c0004t0039	a0001c0001t0015g0029 a0002c0004t0039g0217 a0001c0001t0015g0029 a0002c0004t0039g0217	2	218	0.0092	360	c.-49 others(371): Show c.-4959_-4958insAGGAGGAGGGGAGGAGGAGGAGGAAGAGGAGGAA GAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGGAAGGAGGATGAGG AGAAGGAGGAAGAGGGGGCGGAGGAGGAGGAAGAGGAGAAGAAAGAGGAG GAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGAAGAAGAGAAG GAGGAGGAAAAGGAGAAGAAGGAGGAGAAAAGGAGGAGGAGAAGGAAGAG GAGGAGAAGGGAGAGAATGAGAAGGAGGATAATGAGAAGGAGGAGGAGGA AGAAGAGGAGGGGAGGAGGAGGAGGACTAGGAGGAGGAAGAGGAGAAGGA GGAGGAAGAGGAGGAGGAGGAAGGGG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4810		chr17	TogoVar
PKP3_chr11_389209_409908	401792	G G	GCTCACAC others(353): Show GCTCACACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCCGGCCCCG CTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCGCCCCGCTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACAACCCCGGCCCCCGCTCACCA CCCGCCCCGCTCACACCCGCCCCGCTCACCCCCCGGCCCCGCTCACACAC CCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCCGCTCACACCCC GGCCCCGCTCACACCCGCCCCGCTCACAACCCGCCCCCGCTCACACCCGC CCCGCTCACCCCCGGCCCCGCTCACACCCCGCCCCGCTCACCCCCAGCCC CGCTCACACCT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0122 a0001c0003t0001g0122	1	216	0.0046	360	c.173 others(379): Show c.1737+1087_1737+1088insCTCACACCCCGGCCCCGCTCACACCC GCCCCGCTCACACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCC CCGCTCACCCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACAACCCCGGCCCCCGCTCACCACCCGCCCCGCTCACACCCGCCCCGCTC ACCCCCCGGCCCCGCTCACACACCCGCCCCGCTCACACCCGCCCCGCTCA CACCCGGCCCCCGCTCACACCCCGGCCCCGCTCACACCCGCCCCGCTCAC AACCCGCCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACAC CCCGCCCCGCTCACCCCCAGCCCCGCTCACACCT	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	401882	C C	CGCTCACC others(353): Show CGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGACCCGCT CACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCC CAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGA CCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTC ACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACA CCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGG CCCCGCTCACA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0150 a0001c0003t0001g0150	1	216	0.0046	360	c.173 others(379): Show c.1737+1177_1737+1178insGCTCACCCCGGGCCCCGCTCACACCC GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCC CGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCT CACCCCGGCCCCGCTCACCCCGGCCCCGCTCACA	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	402469	C C	CCCCCGGC others(353): Show CCCCCGGCCCCGCTCACCCCCGACCCACTCACACCCGGCCCCGCTCACCC CCGCCCCGCTCACCCCCGACCCGCTCACACCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCG CTCACCCCGGCCCCGCTCACCCCAGCCCCGCTCACACCCGCCCCGCTCAC CCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCC CGGCCCCGCTCACCCCGACCCCGCTCACCCCGGACCCCCGGCCCCGCTCA CCCCCGACCCCCGACCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCG CTGACCCCCGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG02132.hp1 others(3): Show HG00639.hp2 HG01069.hp2 HG02132.hp1 HG02735.hp2 HG03492.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0028 a0001c0002 a0001c0028	a0001c0002t0001 a0001c0028t0001 a0001c0002t0001 a0001c0028t0001	a0001c0002t0001g0103 a0001c0002t0001g0139 a0001c0002t0001g0140 others(3): Show a0001c0002t0001g0103 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0146 a0001c0028t0001g0137	6	216	0.0278	360	c.173 others(377): Show c.1738-606_1738-605insCGGCCCCGCTCACCCCCGACCCACTCAC ACCCGGCCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCGCTCACACCC GGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCGGACC CCGCTCACCCCCGACCCGCTCACCCCGGCCCCGCTCACCCCAGCCCCGCT CACACCCGCCCCGCTCACCCGGGACCCCGCTCACACCCGCCCCGCTCACC CCGGACCCCGCTCACCCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCG GACCCCCGGCCCCGCTCACCCCCGACCCCCGACCCCGCTCACACCCGCCC CGCTCACCCCCGGCCCCGCTGACCCCCGACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(353): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTGTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGG GACTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCG CGCCCGGCCAC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	294	0.0034	360	c.550 others(377): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAA AAAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(353): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTGTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGG GACTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCG CGCCCGGCCAC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	294	0.0034	360	c.550 others(377): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAA AAAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(353): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTGTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGG GACTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCG CGCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	294	0.0034	360	c.550 others(377): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAA AAAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(353): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTTTTTGTTTGTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGG GACTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCG CGCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	294	0.0034	360	c.550 others(377): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACAAACAAAAAAAAAA AAAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(353): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGG GACTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCG CGCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18949.hp1 NA20129.hp2 HG01081.hp2 NA18949.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0132 a0001c0001t0001g0166 a0001c0001t0001g0168	3	294	0.0102	360	c.550 others(377): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(353): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGA GGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGG GAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGGAGGGGAGGAGGG GGGGAGGGGAGGGGAGGAAGGGGGGACGGCAGCGGCGGGCAGGGGAGCAG CGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGGGAGGGGAGGAGGGA GGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGAGGGA GGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	354	0.0028	360	c.-27 others(369): Show c.-277_-276insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC CTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCGCCCCTAAC CCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGT CCCCCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTCCCCCTCCCTCCC CTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCC TCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTCCCC TCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCCGCTCC CCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PODNL1_chr19_13926187_13943417	13937022	C C	CGCCATCA others(353): Show CGCCATCACCCCCGCAATCAACCCCACATGCCACAACACCCCCGCAATCG ACCCCAAATGCGCCATCACCCCCGCAATCAACCCCACATGCCACAACACC CCCGCAATCGACCCCAAATGCGCCATCACCCCCGCAATCAACCCCACATG CCACAACACCCCCACAATCGACCCCAAATGCGCCATCACCCCCGCAATCA ACCCCACATGCCACAACACCCCCGCAATCGACCCCAAATGTGCCATCACC CCCGCAATCAACCCCACATGCCCCAACACCCCCGCAATCGACCCCAAATG TGCCATCACCCCCGCAATCAACCCCACATGCCCCAACACCCCCGCAATCG ACCCCAAATGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	432	0.0023	360	c.226 others(375): Show c.226-563_226-562insACATTTGGGGTCGATTGCGGGGGTGTTGGG GCATGTGGGGTTGATTGCGGGGGTGATGGCACATTTGGGGTCGATTGCGG GGGTGTTGGGGCATGTGGGGTTGATTGCGGGGGTGATGGCACATTTGGGG TCGATTGCGGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGATGGC GCATTTGGGGTCGATTGTGGGGGTGTTGTGGCATGTGGGGTTGATTGCGG GGGTGATGGCGCATTTGGGGTCGATTGCGGGGGTGTTGTGGCATGTGGGG TTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTGCGGGGGTGTTGTG GCATGTGGGGTTGATTGCGGGGGTGATGGC	PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding	2/9			chr19	TogoVar
PODNL1_chr19_13926187_13943417	13937114	A A	ACAACACC others(353): Show ACAACACCCCCACAATCGACCCCAAATGCGCCATCACCCCCGCAATCAAC CCCACATGCCACAACACCCCCACAATCGACCCCAAATGCGCCATCACCCC CGCAATCAACCCCACATGCCACAACACCCCCGCAATCGACCCCAAATGCG CCATCACCCCCGCAATCAACCCCACATGCCACAACACCCCCGCAATCGAC CCCAAATGCGCCATCACCCCCGCAATCAACCCCACATGCCACAACACCCC CGCAATCGACCCCAAATGTGCCATCACCCCCGCAATCAACCCCACATGCC CCAACACCCCCGCAATCGACCCCAAATGTGCCATCACCCCCGCAATCAAC CCCACATGCCC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	432	0.0023	360	c.226 others(375): Show c.226-655_226-654insGGGCATGTGGGGTTGATTGCGGGGGTGATG GCACATTTGGGGTCGATTGCGGGGGTGTTGGGGCATGTGGGGTTGATTGC GGGGGTGATGGCACATTTGGGGTCGATTGCGGGGGTGTTGTGGCATGTGG GGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTGCGGGGGTGTTG TGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTGC GGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTGG GGTCGATTGTGGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGATG GCGCATTTGGGGTCGATTGTGGGGGTGTTG	PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding	2/9			chr19	TogoVar
PODNL1_chr19_13926187_13943417	13937114	A A	ACAACACC others(353): Show ACAACACCCCCGCAATCGACCCCAAATGCGCCATCACCCCCGCAATCAAC CCCACATGCCACAACACCCCCACAATCGACCCCAAATGCGCCATCACCCC CGCAATCAACCCCACATGCCACAACACCCCCGCAATCGACCCCAAATGTG CCATCACCCCCGCAATCAACCCCACATGCCACAACACCCCCGCAATCGAC CCCAAATGTGCCATCACCCCCGCAATCAACCCCACATGCCCCAACACCCC CGCAATCGACCCCAAATGTGCCATCACCCCCGCAATCAACCCCACATGCC CCAACACCCCCGCAATCGACCCCAAATGTGCCATCACCCCCGCAATCAAC CCCACATGCCC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	432	0.0023	360	c.226 others(375): Show c.226-655_226-654insGGGCATGTGGGGTTGATTGCGGGGGTGATG GCACATTTGGGGTCGATTGCGGGGGTGTTGGGGCATGTGGGGTTGATTGC GGGGGTGATGGCACATTTGGGGTCGATTGCGGGGGTGTTGGGGCATGTGG GGTTGATTGCGGGGGTGATGGCACATTTGGGGTCGATTGCGGGGGTGTTG TGGCATGTGGGGTTGATTGCGGGGGTGATGGCACATTTGGGGTCGATTGC GGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTGG GGTCGATTGTGGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGATG GCGCATTTGGGGTCGATTGCGGGGGTGTTG	PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding	2/9			chr19	TogoVar
PODNL1_chr19_13926187_13943417	13937114	A A	ACAACACC others(353): Show ACAACACCCCCGCAATCGACCCCAAATGCGCCATCACCCCCGCAATCAAC CCCACATGCCACAACACCCCCACAATCGACCCCAAATGCGCCATCACCCC CGCAATCAACCCCACATGCCACAACACCCCCGCAATCGACCCCAAATGTG CCATCACCCCCGCAATCAACCCCACATGCCCCAACACCCCCGCAATCGAC CCCAAATGTGCCATCACCCCCGCAATCAACCCCACATGCCCCAACACCCC CGCAATCGACCCCAAATGTGCCATCACCCCCGCAATCAACCCCACATGCC ACAACACCCCCGCAATCGACCCCAAATGCGCCATCACCCCCGCAATCAAC CCCACATGCCC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	432	0.0023	360	c.226 others(375): Show c.226-655_226-654insGGGCATGTGGGGTTGATTGCGGGGGTGATG GCGCATTTGGGGTCGATTGCGGGGGTGTTGTGGCATGTGGGGTTGATTGC GGGGGTGATGGCACATTTGGGGTCGATTGCGGGGGTGTTGGGGCATGTGG GGTTGATTGCGGGGGTGATGGCACATTTGGGGTCGATTGCGGGGGTGTTG GGGCATGTGGGGTTGATTGCGGGGGTGATGGCACATTTGGGGTCGATTGC GGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTGG GGTCGATTGTGGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGATG GCGCATTTGGGGTCGATTGCGGGGGTGTTG	PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding	2/9			chr19	TogoVar
PPARGC1B_chr5_149725310_149860022	149809293	G G	GATAGATA others(353): Show GATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAG ATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATAGA TAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGAT AGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATA GATAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAG ATCCATCTCTACCATAGATAGATAGATAGATAGATAGATAGATCCATCTC TACCATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCGAT CCATCTCTACC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0009 a0005c0011t0009	a0005c0011t0009g0132 a0005c0011t0009g0132	1	320	0.0031	360	c.79- others(377): Show c.79-11106_79-11105insCCATCTCTACCATAGATAGATAGATAGA TAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAGAT AGATAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATA GATAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAG ATCCATCTCTACCATAGATAGATAGATAGATAGATAGATCCATCTCTACC ATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGA TAGATAGATAGATAGATAGATAGATAGATAGATCGATCCATCTCTACCAT AGATAGATAGATAGATAGATAGATAGATAGAT	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149809293	G G	GATAGATA others(353): Show GATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAG ATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATAGA TAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATAGAT AGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATAGATA GATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAGATCC ATCTCTACCATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACC ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCGATCGAT CCATCTCTACC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0056 a0001c0010t0001g0056	1	320	0.0031	360	c.79- others(377): Show c.79-11106_79-11105insCCATCTCTACCATAGATAGATAGATAGA TAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAGAT AGATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAGATA GATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAGATCC ATCTCTACCATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAG ATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATAGA TAGATAGATAGATAGATAGATAGATAGATCGATCGATCCATCTCTACCAT AGATAGATAGATAGATAGATAGATAGATAGAT	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar

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