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
NOTCH1_chr9_136489433_136551048	136528417	C C	CGGGGGGG others(369): Show CGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAG GGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGG ACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGAT GGTGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGG CAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACA GTGGGGGGGGATGGGCAGGGACGGTGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0019 a0019	a0019c0029 a0019c0029	a0019c0029t0004 a0019c0029t0004	a0019c0029t0004g0039 a0019c0029t0004g0039	1	324	0.0031	376	c.141 others(393): Show c.141-4439_141-4438insTCACCGTCCCTGCCCATCCCCCCCCACT GTCCCTGCCCACCCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTGC CCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACC CCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACCA TCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTC CCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCA CCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCC TCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NUP93_chr16_56725129_56855286	56808131	A A	AAATATAT others(369): Show AAATATATAGTTATATAACTATATAAAATATATAGTTATGTAACTATATA AAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATA AAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATA AAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATA AAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATA AAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATAAA ATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAA ATATATAGTTATGTAACTATATAAAAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0248 a0001c0003t0002g0248	1	378	0.0027	376	c.489 others(393): Show c.489+2500_489+2501insATATATAGTTATATAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATAAAATATATAGTTATGTAACTATATAAAATATA TAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	949297	G G	GCGGCCTC others(369): Show GCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCT CCTCTCCCCCTGCCTCCTCCTCTCCCCGCGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCC CGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	242	0.0041	376	c.360 others(395): Show c.360+30021_360+30022insGGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGC GGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCGCGGGGAGAGGAGGAGGCAGGGGGAGAG GAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGG GGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPCML_chr11_132409981_133537501	133082514	C C	CTCCCCTC others(369): Show CTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTC CCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCC TCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCC TCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCT CCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCT CCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCT CATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCAT CCTCTCCTCCCCCTCGCCCATCCCCCT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01884.hp2 HG01978.hp1 others(3): Show HG01258.hp2 HG01884.hp2 HG01978.hp1 HG02258.hp2 HG02647.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0020 a0001c0001t0031	a0001c0001t0002g0019 a0001c0001t0002g0042 a0001c0001t0006g0037 others(3): Show a0001c0001t0002g0019 a0001c0001t0002g0042 a0001c0001t0006g0037 a0001c0001t0012g0063 a0001c0001t0020g0033 a0001c0001t0031g0062	6	68	0.0882	376	c.62- others(395): Show c.62-139505_62-139504insAGGGGGATGGGCGAGGGGGAGGAGAG GATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGAT GAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAG GAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAG GAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGG AGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGG AGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGAGAGGAGG GGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPRL1_chr20_64075082_64105633	64094273	T T	TGGGGGGC others(369): Show TGGGGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGG GGGCAGTGTGGGGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGTGGGT CAGTGTGCGGGCAGTGTGTGGGGGTCAGTGTGGGGGGCAGTGTGGGGGCA GTGTGTGGGTCAGTGTGGGGGCAGTGTGGGGGGCAGTGTGGGGGGCAGTG TGGGGGGCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGGGGGCAGTGTGGG GGCAGTGTGGGGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGTGGGTC AGTGTGCGGGCAGTGTGTGGGGGGCAGTGTGGGGGGCAGTGTGGGGGCAG TGTGGGGGCAGTGTGTGGGTCAGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	66	0.0152	376	c.233 others(393): Show c.233+1323_233+1324insGGGCAGTGTGGGGGGCAGTGTGGGGGCA GTGTGTGGGTCAGTGTGGGGGCAGTGTGGGGGGCAGTGTGGGGGGCAGTG TGGGGGCAGTGTGTGGGTCAGTGTGCGGGCAGTGTGTGGGGGTCAGTGTG GGGGGCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGGGGGCAGTGTGGGGG GCAGTGTGGGGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGTGGGTCA GTGTGGGGGCAGTGTGGGGGCAGTGTGGGGGGCAGTGTGGGGGGCAGTGT GGGGGCAGTGTGTGGGTCAGTGTGCGGGCAGTGTGTGGGGGGCAGTGTGG GGGGCAGTGTGGGGGCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGGGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OR1F1_chr16_3183204_3211556	3197859	G G	GGGAGAGG others(369): Show GGGAGAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAAGGGAGAG GGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGG AGAAGGAGAGGGAGAAGGAGAAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGAGAGGAGAGGAGAGGGAGAAGGAGAGGGAGAGGAGAAGGAGA GGGAGAAGGAGAGGGAGAGGGAGAGAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0142	1	328	0.0031	376	c.-12 others(393): Show c.-12-6369_-12-6368insAGAGGGAGAGGGAGAAGGAGAGGGAGAG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAGGGAGA GGGAGAAGGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAAGGAGAGGGAGAAGGAGAAGGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGAGAGGAGAGGAGAGGGAGAAGGAGAGGG AGAGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAGAAGGAGAGG	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(369): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	438	0.0023	376	c.-29 others(391): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAT AATAATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(369): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	438	0.0023	376	c.-29 others(391): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT AATAATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(369): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GCATATATATACATATATGTGTGTGCATATATATACATATATGTGTGCAT ATATATACATATATGTGTGCATATATATACATATATATGTGTGCATATAT ATACATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	156	0.0064	376	c.196 others(397): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGTGC ATATATATACATATATGTGTGCATATATATACATATATATGTGTGCATAT ATATACATATATGTGTGCATATATATACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT AT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(369): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATGTGTGCATATATATACATATATGTGTGCAT ATATATACATATATATGTGTGCATATATATACATATATGTGTGCATATAT ATACATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	156	0.0064	376	c.196 others(397): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGCATATATATACATATATGTGTGC ATATATATACATATATATGTGTGCATATATATACATATATGTGTGCATAT ATATACATATATGTGTGCATATATATACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT AT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(369): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATGTGTGTGCATATATATACATATATATGTGT GCATATATATACATATATGTGTGCATATATATACATATATGTGTGCATAT ATATACATATATATGTGTGCATATATATACATATATGTGTGCATATATAT ACATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0134 a0001c0001t0005g0134	1	156	0.0064	376	c.196 others(397): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATATGT GTGCATATATATACATATATGTGTGCATATATATACATATATGTGTGCAT ATATATACATATATATGTGTGCATATATATACATATATGTGTGCATATAT ATACATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT AT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PATJ_chr1_61737480_62168915	62137545	T T	TGGAGGGG others(369): Show TGGAGGGGGGAACACAGAGTGAGGGGGCACAGTCTGAGGGGGAAATGCCT CTGGAGGGGGGAACACAAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAA TGCCTCCGGAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGG GAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGA GGGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGC CTGAGAGGGAAATGTCTCCGGAGGGGGAAACACAGAGTGAGGGGGGACAG AGGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGG ACAGAGGCCTGAGAGGGAAATGCCTCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18906.hp1 HG03453.hp1 NA18906.hp1	a0054 a0060 a0054 a0060	a0054c0028 a0060c0103 a0054c0028 a0060c0103	a0054c0028t0002 a0060c0103t0020 a0054c0028t0002 a0060c0103t0020	a0054c0028t0002g0118 a0060c0103t0020g0074 a0054c0028t0002g0118 a0060c0103t0020g0074	2	158	0.0127	376	c.527 others(395): Show c.5271+8626_5271+8627insCACAGTCTGAGGGGGAAATGCCTCTG GAGGGGGGAACACAAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGC CTCCGGAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAA ATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGG GGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTG AGAGGGAAATGTCTCCGGAGGGGGAAACACAGAGTGAGGGGGGACAGAGG CCTGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACA GAGGCCTGAGAGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGG	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(369): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	376	c.-26 others(387): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(369): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCGAT AGATAGATAGATGTATCGATAGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCGATAGATAGATAGATAGATGTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	376	c.-26 others(387): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATACATCTATCTATCTATCTATCGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCTATCGATACATCTATCTATCTATCGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(369): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	376	c.-26 others(387): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(369): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCCTCACCCTGCACCTC CCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCCTCC ACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCC CCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTG CACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTC ACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCCTC ATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACC TCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	360	0.0028	376	c.35 others(387): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC CTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTC CACCTCCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTC CCCCCTCACCTCCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACC TCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCT TTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCC TCCCTCTCCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTC CCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PIGQ_chr16_564968_589109	571082	T T	TCTGCGTC others(369): Show TCTGCGTCTGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTG TGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCC CGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTG TGTGTGTGTGTGGCTAGCCTGGCGCCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0042 a0001c0002t0004g0042	1	408	0.0025	376	c.-10 others(391): Show c.-10+986_-10+987insCTGCGTCTGCCTAGCCTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGT GTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCT AGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGC CCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCT TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(369): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGG AAGGGGGAAGAGGGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02723.hp2 HG02965.hp2 HG01884.hp1 HG02723.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0029 a0001c0001t0002g0092 a0001c0001t0002g0016 a0001c0001t0002g0029 a0001c0001t0002g0092	3	312	0.0096	376	c.53 others(387): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAG GGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGG GAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGG GAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(369): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGG AAGGGGGAAGAGGGGATGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02717.hp2 HG02723.hp1 HG01884.hp2 HG02717.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0029 a0001c0002t0052 a0001c0002t0058 a0001c0001t0029 a0001c0002t0052 a0001c0002t0058	a0001c0001t0029g0054 a0001c0002t0052g0003 a0001c0002t0058g0024 a0001c0001t0029g0054 a0001c0002t0052g0003 a0001c0002t0058g0024	3	218	0.0138	376	c.262 others(391): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTC CCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCC CCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCTCTTCCC TCCTCTCCCCTCCCCTATTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTC CCATCTCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCCCCTCTTCCCC CTCCCCTCCCCTCCCCTCTTCCCCCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKP3_chr11_389209_409908	398381	C C	CTACCCCC others(369): Show CTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCC CCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCA CACACCTGCGTCACCTCCGTACCCCCGCACACACCTCTGTCACCTCCCTA CCCCCGCACACACCTGCATCACCTCCG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0169 a0001c0003t0001g0169	1	216	0.0046	376	c.106 others(393): Show c.1069-604_1069-603insACATATACCTCATCACCTCCGTACACCC GCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCC GTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCG TCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACC CCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACC TCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCT CTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHG4B_chr5_87168_194966	165871	G G	GGAGCTCA others(369): Show GGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAATGCTCT GACGGGGTCGGAGCTCACACAGTAATGCTCTGACGGGGCGGAGCTCACAC TAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGTCGGAG CTCACACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACG GGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCT CTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACT AATGCTCTGACGGGGCGGGGCTCACACTAATGCTGTGACAGGGGTCGGAG CTCACACAGTAATGCTGTGACGGGGCA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0034 a0034	a0034c0083 a0034c0083	a0034c0083t0064 a0034c0083t0064	a0034c0083t0064g0200 a0034c0083t0064g0200	1	210	0.0048	376	c.347 others(395): Show c.3476+2340_3476+2341insGTGACAGGGGGCGGGGCTCACAGTAA TGCTCTGACGGGGTCGGAGCTCACACAGTAATGCTCTGACGGGGCGGAGC TCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGG TCGGAGCTCACACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCT CTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGGGCTCACAGT AATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCT CACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTGTGACAGGGG TCGGAGCTCACACAGTAATGCTGTGACGGGGCAGAGCTCACACTAATGCT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHN1_chr1_961482_980865	964668	G G	GCGGGTCC others(369): Show GCGGGTCCGCAGTGGGGCTGTGGGAGGGGTCCGCGCGTCCGCAGTGGGGA TGTGCTGCGGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGG AGGGGGGCGCGGGTCCGCAGTGGGGCTGTGCTGCGGGAAGGGGGGGGCCG GGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGG GGATGTGCTGCCGGGAGTGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCC GGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCG CGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGT GGGGCTGTGCTGCGGGAAGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0015 a0001c0009t0010g0015	1	422	0.0024	376	c.-18 others(387): Show c.-1864_-1863insCGGGTCCGCAGTGGGGCTGTGGGAGGGGTCCGCG CGTCCGCAGTGGGGATGTGCTGCGGGGAGGGGGGCGCGGGTCCGCAGTGG GGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGCTGTGCTGCG GGAAGGGGGGGGCCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGC GCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGTGGGGCGCGGGTCCGCAG TGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCT GCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGG GCGCGGGTCCGCAGTGGGGCTGTGCTGCGGGAAGGGGGGGGC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1813		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977285	C C	CCCCGGGA others(369): Show CCCCGGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCACTCCCCCCGCAACCCCGGA ACCGCCTCCCACTCCCCCCACCAACCCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTCC CACCTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACCTCCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0001 a0001c0001t0042g0001	1	422	0.0024	376	c.27 others(387): Show c.2710_*2711insCCCGGGAACCGCCTCCCACTCCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCACTCC CCCCGCAACCCCGGAACCGCCTCCCACTCCCCCCACCAACCCCCGGGAAC CGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCCGCAACC CCGGGAACCGCCTCCCACCTCCCCCCACCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACCTCCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1421		chr1	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(369): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGG GGGAGGGGAGGAGGGAGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	354	0.0028	376	c.-27 others(385): Show c.-277_-276insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC CTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAA CCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCG TCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTC CCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCC GCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCC CCTCCCCGCCCCTCCCCTCCTCCCCCTCCCCTGCTGCCCTCCCCTCCCCG CCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137517968	T T	TCACTCCA others(369): Show TCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCAC TCACTCACTCGACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCT GTCCACTCCATCCCCCGTCACTCACTCCACTCTGTCCACTCCATCCCCCG TCACTCACTCCACTCTGTCCACTCCATCCCACACTCACTCACTCCACTCT GTCCACTCCATCCCCCACTCACGCACTCACTCCACTCTGTCCACTCCATC CCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTCACTC CACTCTGTCCACTCCATCCCTCATTCACTCACTCCACTCTGCTCACTCCA TCCCCCACTCACTGACTCCACTCTGTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	188	0.0053	376	c.108 others(395): Show c.1084+1948_1084+1949insGACAGAGTGGAGTCAGTGAGTGGGGG ATGGAGTGAGCAGAGTGGAGTGAGTGAATGAGGGATGGAGTGGACAGAGT GGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAGTGGG GGATGGAGTGGACAGAGTGGAGTGAGTGCGTGAGTGGGGGATGGAGTGGA CAGAGTGGAGTGAGTGAGTGTGGGATGGAGTGGACAGAGTGGAGTGAGTG ACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGACGGGGGATGGAGTGGA CAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTCGAGTGAGTG AGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAGTGGGGGATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PPARGC1B_chr5_149725310_149860022	149809191	G G	GATAGATA others(369): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACC ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT AGATCCATCTCTACCATAGATAGATAGATAGATAGATAGATAGATAGATA GATCCATCTCTACCATAGATAGATAGATAGATAGATAGATAGATCCATCT CTACCATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTC TACCATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCT ACCATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGAT AGATAGATAGATAGATCCATCTCTACC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0128 a0005c0011t0001g0128	1	320	0.0031	376	c.79- others(393): Show c.79-11212_79-11211insAGATAGATCCATCTCTACCATAGATAGA TAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCATC TCTACCATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCATCT CTACCATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAG ATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGA TAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGAT AGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGATA GATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAGATAGAT	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP1R14C_chr6_150138044_150255392	150167968	T T	TTCTCCCC others(369): Show TTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTT CTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCC CTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCC CTTCCTCTCCTTCTCTCCTCCCCTTCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03225.hp2 HG02145.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0087 a0001c0001t0003g0084 a0001c0001t0003g0087	2	312	0.0064	376	c.306 others(395): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTT TCTCCCCTTCTCTCCTCCCCTTCCTCTCCTTCTCTCCTCCCCTTCCTCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRDM16_chr1_3064203_3443621	3162861	C C	CTCTAGAG others(369): Show CTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGT CTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCT AGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCCGGCTCTAGAGGG CTTTGGGAGAGGGGATGTGCGCAGAAGCCCCCGGCTCTAGAGGGCTTTGG GAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGA GAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGA GGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGG GGATGTCCGCAGAAGCCCCTGGCATGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0029 a0002c0003t0029	a0002c0003t0029g0106 a0002c0003t0029g0106	1	210	0.0048	376	c.38- others(393): Show c.38-23189_38-23188insCCGCAGAAGCCCCTGGCATGGTCTAGAG GGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCCGGCTCTAGAGGGCTTT GGGAGAGGGGATGTGCGCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGA GGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGG GGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGG ATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGAT GTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGT GCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123071	A A	AGTTAGGG others(369): Show AGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGG TGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTC ACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTC GTGGTGGTTAGGGTCGTGGCGGTGGTTAGGTTCATGGTGGTGGTTAGGGT CGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGG TCACGGCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTGGTT AGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGG TTCATGGTGGTGGTTAGGGTCGTGGTG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	286	0.0035	376	c.335 others(395): Show c.335-11968_335-11967insGGTTAGGGTCACGGTGGTGGTTAGGG TCACGGCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTGGTT AGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGG TTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTGGTTAG GGTCACGGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGG TTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTG GTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTG GTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASA3_chr13_113972783_114137623	114099847	C C	CACAGCCC others(369): Show CACAGCCCCCACAGCCCCCCACAGCCCCCACACAGCCCCCACAGCAGCCC CCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCAC AGCCCCCACACAGCCCCCCCACAGCCCCCCACAGCCCCCACACAGCCCCC CCACAGCCCCCCCACAGCCCCCACAGCCCCCCCAGCAGCCCCCCCACAGC CCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCCCCCCACAG CCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCC ACAGCCCCCACAGCCCCCCACAGCCCCCACAGCCCCCACAGCAGCCCCCC CACAGCCCCCCCACAGCCCCCCCACAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0002 a0006c0008t0001g0002	1	67	0.0149	376	c.56- others(393): Show c.56-26011_56-26010insCTGTGGGGGGGCTGTGGGGGGGCTGTGG GGGGGCTGCTGTGGGGGCTGTGGGGGCTGTGGGGGGCTGTGGGGGCTGTG GGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGC TGTGGGGGGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGG CTGTGGGGGGGCTGCTGGGGGGGCTGTGGGGGCTGTGGGGGGGCTGTGGG GGGGCTGTGTGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGTGGGGGCTG TGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGG GGCTGCTGTGGGGGCTGTGTGGGGGCTGTGGGGGGCTGTGGGGGCTGT	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBFOX1_chr16_6014024_7718340	7229798	G G	GAGGAAGG others(369): Show GAGGAAGGGAGAGAGAGGAAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGA GAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGAAGGAAGGGA GAGAGAGGGAGGAAGGGAGAGAGAGGAAGGAAGGGAGAGAGAGGGAGGAA GGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGA GGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGA GGGAGGAAGGGAGAGAGAGGGAGGAAGAGGGGAAGGAAGGAAGGGAGAGA GAGGAAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGAAGGAAGGGA GAGAGAGGGAGGAAGGGAGAGAGAGGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0043 a0002c0005t0003g0043	1	68	0.0147	376	c.27+ others(395): Show c.27+177771_27+177772insGAGGAAGGGAGAGAGAGGAAGGAAGG GAGAGAGAGGGAGGAAGGGAGAGAGAGGAAGGAAGGGAGAGAGAGGGAGG AAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGG GAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGA GAGGGAGGAAGGGAGAGAGAGGGAGGAAGAGGGGAAGGAAGGAAGGGAGA GAGAGGAAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGAAGGAAGG GAGAGAGAGGGAGGAAGGGAGAGAGAGGAAGGAAGGGAGAGAGAGGAAGG AAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RDH13_chr19_55039316_55068148	55060310	A A	ATGCTGCC others(369): Show ATGCTGCCTTGTTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTATTTTTTTTTTTTTTTTTTTATTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0182 a0001c0001t0009g0182	1	377	0.0027	376	c.66- others(391): Show c.66-1036_66-1035insGTTGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAATAAAAAAAAAAAAAAAAAAATAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATAACAAGGCAGCA	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding	1/6			chr19	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(369): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CATATGTATGTATGTGTATACATACGTATGTATGTGTATACATACATATG TATGTATGTGTACACATACGTATGTATGTGTATACATACATACGTATGTA TGTGTACACATACGTATGTATGTGTACACATACATATGTATGTATGTGTA CACATACGTATGTATGTGTACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	376	c.-23 others(387): Show c.-2310_-2309insGTATGTGTACACATACATACGTATGTGTACACAT ACATACATATGTATGTGTACACATACATACGTATGTGTACACATACATAC GTATGTATGTATACACATACATACGTATGTGTACACATACATACATATGT ATGTATACACATACATACGTATGTATACACATACATACATATGTATGTAT ACACATACATACGTATGTATACACATACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACATACGTATGCATACACATACATATGTATGCATACACATACATATGT ATGCATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(369): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CATATGTATGTATGTGTATACATACGTATGTATGTGTATACATACATATG TATGTATGTGTATACATACATATGTATGTGTATACATACATACGTATGTA TGTGTACACATACGTATGTATGTGTACACATACATACGTATGTATGTGTA CACATACATATGTATGTGTACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	452	0.0022	376	c.-23 others(387): Show c.-2310_-2309insGTATGTGTACACATACATATGTATGTGTACACAT ACATACGTATGTATGTGTACACATACATACGTATGTGTACACATACATAC GTATGTATGTATACACATACATATGTATGTATACACATACATACATATGT ATGTATACACATACATACGTATGTATACACATACATACATATGTATGTAT ACACATACATACGTATGTATACACATACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACATACGTATGCATACACATACATATGTATGCATACACATACATATGT ATGCATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(369): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CATATGTATGTATGTGTATACATACGTATGTATGTGTATACATACATATG TATGTATGTGTATACATACATATGTATGTGTATACATACATACGTATGTA TGTGTACACATACGTATGTATGTGTACACATACATATGTATGTATGTGTA CACATACATATGTATGTGTACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	452	0.0022	376	c.-23 others(387): Show c.-2310_-2309insGTATGTGTACACATACATATGTATGTGTACACAT ACATACATATGTATGTGTACACATACATACGTATGTGTACACATACATAC GTATGTATGTATACACATACATATGTATGTATACACATACATACATATGT ATGTATACACATACATACGTATGTATACACATACATACATATGTATGTAT ACACATACATACGTATGTATACACATACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACATACGTATGCATACACATACATATGTATGCATACACATACATATGT ATGCATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(369): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTGTATACATACATATGTATGTATGTGTATACATA CGTATGTATGTGTATACATACATATGTATGTATGTGTACACATACGTATG TATGTGTATACATACATACGTATGTATGTGTACACATACGTATGTATGTG TACACATACATATGTATGTATGTGTACACATACGTATGTATGTGTACACA TACATATGTATGTATGTGTACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	376	c.-23 others(387): Show c.-2310_-2309insGTATGTGTACACATACATACATATGTATGTGTAC ACATACATACGTATGTGTACACATACATACATATGTATGTGTACACATAC ATACGTATGTGTACACATACATACGTATGTATGTATACACATACATACGT ATGTGTACACATACATACATATGTATGTATACACATACATACGTATGTAT ACACATACATACATATGTATGTATACACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACATACGTATGCATACACATACATATGTATGCATACACATACATATGT ATGCATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(369): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACATATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTA TACATACATATGTATGTATGTGTACACATACGTATGTATGTGTATACATA CATACGTATGTATGTGTACACATACGTATGTATGTGTATACATACATACG TATGTATGTGTACACATACGTATGTATGTGTACACATACATATGTATGTA TGTGTACACATACATATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	376	c.-23 others(387): Show c.-2328_-2327insGTACACATACATATGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTATACACATACATACGTATGTGTACACATACATACGTATGTATGTAT ACACATACATACGTATGTGTACACATACATACATATGTATGTATACACAT ACATACGTATGTATACACATACATACATACGTATGTATACACATACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATACAT ACGTATGTATACACATACATACATATGTATGCATACACATACATATGTAT GCATACACATACATATGTATGCATACACATACATATGTATGC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(369): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACATATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTGTATACATACATACGTATGTATGTGTA TACATACGTATGTATGTGTATACATACATACGTATGTATGTGTACACATA CGTATGTATGTGTATACATACATACGTATGTATGTGTACACATACGTATG TATGTGTACACATACATACGTATGTATGTGTACACATACGTATGTATGTG TACACATACATACGTATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	376	c.-23 others(387): Show c.-2328_-2327insGTACACATACATACGTATGTATGTGTACACATAC ATACGTATGTGTACACATACATACGTATGTATGTGTACACATACATACGT ATGTGTACACATACATACGTATGTATGTATACACATACATACGTATGTGT ACACATACATACGTATGTATGTATACACATACATACGTATGTATACACAT ACATACGTATGTATGTATACACATACATACGTATGTATACACATACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATACAT ACGTATGTATACACATACATACATATGTATGCATACACATACATATGTAT GCATACACATACATATGTATGCATACACATACATATGTATGC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(369): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTA TACATACATACGTATGTATGTGTATACATACGTATGTATGTGTATACATA CATACGTATGTATGTGTACACATACGTATGTATGTGTATACATACATACG TATGTATGTGTACACATACGTATGTATGTGTACACATACATATGTATGTA TGTGTACACATACATATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	376	c.-23 others(387): Show c.-2328_-2327insGTACACATACATATGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTATACACATACATACGTATGTGTACACATACATACGTATGTATGTAT ACACATACATACGTATGTATACACATACATACGTATGTATGTATACACAT ACATACGTATGTATACACATACATACATACGTATGTATACACATACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATACAT ACGTATGTATACACATACATACATACGTATGCATACACATACATATGTAT GCATACACATACATATGTATGCATACACATACATATGTATGC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(369): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACGTA TGTATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTGTATACATACATACGTATGTATGTGTATACATACGTATGTATGTGTA TACATACATACGTATGTATGTGTACACATACGTATGTATGTGTATACATA CATACGTATGTATGTGTACACATACGTATGTATGTGTATACATACATACG TATGTATGTGTACACATACGTATGTATGTGTACACATACATATGTATGTA TGTGTACACATACGTATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	376	c.-23 others(387): Show c.-2328_-2327insGTACACATACATACGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTATACACATACATACGTATGTGTACACATACATACGTATGTATGTAT ACACATACATACGTATGTGTACACATACATACGTATGTATGTATACACAT ACATACGTATGTATACACATACATACGTATGTATGTATACACATACATAC GTATGTATACACATACATACATACGTATGTATACACATACATACATACGT ATGTATACACATACATACATACGTATGTATACACATACATACATACGTAT GCATACACATACATATGTATGCATACACATACATATGTATGC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(369): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACGTA TGTATGTATGTGTATGCATACGTATGTATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTGTACACATACATACGTATGTATGTGTACACATACGTATGTATGTGTA CACATACATACGTATGTATGTGTACACATACGTATGTATGTGTACACATA CATACGTATGTATGTGTACACATACGTATGTATGTGTACACATACATACG TATGTATGTGTACACATACGTATGTATGTGTACACATACATACGTATGTA TGTGTACACATACGTATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	376	c.-23 others(387): Show c.-2328_-2327insGTACACATACATACGTATGTGTACACATACATAC GTATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTGTACACATACATACGTATGTGTACACATACATACGTATGTATGTGT ACACATACATACGTATGTGTACACATACATACGTATGTATGTGTACACAT ACATACGTATGTGTACACATACATACGTATGTATGTGTACACATACATAC GTATGTATACACATACATACATACGTATGTATACACATACATACATACGT ATGTATACACATACATACATACGTATGCATACACATACATACATACGTAT GCATACACATACATATGTATGCATACACATACATATGTATGC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2103		chr3	TogoVar
RGPD5_chr2_109789305_109862705	109794583	G G	GGGGGGAG others(369): Show GGGGGGAGGGGGGGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGC GGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGG CCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGG GGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGGGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGG GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCCCCGGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0003 a0007c0016t0003	a0007c0016t0003g0002 a0007c0016t0003g0002	1	40	0.0250	376	c.72+ others(387): Show c.72+49_72+50insGGAGGGGGGGGCGGCGGCGGCGGCCTCGGCCCGG CCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCG GCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGG CGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCC GGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCG GGGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGG CCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCGGCCGGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(369): Show CATGGTGACTGCCGGACACTCAGCCCGGCATCACGGGCTGGATTTAGGAT GGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGT GACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGAC TGCCAGACACTCGGCCCGGCTTCACGGGCTGGATTTAGGATGGTGACTGC CGGACACTCGGCCCGGCTTCACGGGCTGGATTTAGGATGGTGACTGCCAG ACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGACTGCCGGACA CTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTC GGCCCGGCTTCACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0128 a0002c0010t0001g0128	1	180	0.0056	376	c.-35 others(397): Show c.-351-12837_-351-12836insCCTAAATCCAGCCCGTGAAGCCGG GCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCC GAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAG TGTCTGGCAGTCACCATCCTAAATCCAGCCCGTGAAGCCGGGCCGAGTGT CCGGCAGTCACCATCCTAAATCCAGCCCGTGAAGCCGGGCCGAGTGTCTG GCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCA GTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGATGCCGGGCTGAGTGTCCGGCAGTCACC AT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(369): Show CATGGTGACTGCCGGACACTCAGCCCGGCATCACGGGCTGGATTTAGGAT GGTGACTGCCGGACACTCGGCCCGGCTTCACGGGCTGGATTTAGGATGGT GACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGAC TGCCGGACACTCGGCCCGGCTTCACGGGCTGGATTTAGGATGGTGACTGC CGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGACTGCCGG ACACTCGGCCCGGCTTCACGGGCTGGATTTAGGATGGTGACTGCCGGACA CTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTC GGCCCGGCATCACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0003 a0002c0035t0003	a0002c0035t0003g0139 a0002c0035t0003g0139	1	180	0.0056	376	c.-35 others(397): Show c.-351-12837_-351-12836insCCTAAATCCAGCCCGTGATGCCGG GCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCC GAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGAAGCCGGGCCGAG TGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGT CCGGCAGTCACCATCCTAAATCCAGCCCGTGAAGCCGGGCCGAGTGTCCG GCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCA GTCACCATCCTAAATCCAGCCCGTGAAGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGATGCCGGGCTGAGTGTCCGGCAGTCACC AT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(369): Show AATATATATATTTAAATATATATATTTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATATTAATATATATTTAAAATATATATTTAAAT ATATATTAATATATATATTTAAAGATATATATTAAATTATATATATTAAA ATATGTATATTAATATATATTTAAATTATATAATTTAAATATACATATTT AAAAATATATATATTTAAAAATATATATTTTTAATATATATATTTTTAAA TATATATATATTTATATATATATTTTTAAATATATATATATATTTATATA TATATTTTTAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0224 a0001c0002t0004g0224	1	408	0.0025	376	c.182 others(393): Show c.182-2703_182-2702insTATATATATTTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATATTAATATATATTTAAAATATATAT TTAAATATATATTAATATATATATTTAAAGATATATATTAAATTATATAT ATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATATAC ATATTTAAAAATATATATATTTAAAAATATATATTTTTAATATATATATT TTTAAATATATATATATTTATATATATATTTTTAAATATATATATATATT TATATATATATTTTTAAATATATATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(369): Show AATATATATATTTAAATATATATATTTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATATTAATATATATTTAAAATATATATTTAAAT ATATATTAATATATATATTTAAAGATATATATTAAATTATATATATTAAA ATATGTATATTAATATATATTTAAATTATATAATTTAAATATACATATTT AAAAATATATATATTTAAATATATATATTTTTAATATATATATTTTTAAA TATATATATATTTATATATATATTTTTAAATATATATATATATTTATATA TATATTTTTAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp2 HG02071.hp1 others(25): Show HG00423.hp2 HG00741.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG03491.hp2 HG03492.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18955.hp1 NA18956.hp2 NA18963.hp1 NA18964.hp1 NA18981.hp2 NA18994.hp2 NA19006.hp1 NA19055.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0009 a0001c0002t0001g0029 a0001c0002t0001g0198 others(14): Show a0001c0002t0001g0009 a0001c0002t0001g0029 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0210 a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0004g0030 a0001c0002t0004g0032 a0001c0002t0004g0221 a0001c0002t0004g0223 a0001c0002t0004g0225	28	408	0.0686	376	c.182 others(393): Show c.182-2703_182-2702insTATATATATTTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATATTAATATATATTTAAAATATATAT TTAAATATATATTAATATATATATTTAAAGATATATATTAAATTATATAT ATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATATAC ATATTTAAAAATATATATATTTAAATATATATATTTTTAATATATATATT TTTAAATATATATATATTTATATATATATTTTTAAATATATATATATATT TATATATATATTTTTAAATATATATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF17_chr13_24759169_24884921	24882005	G G	GATACATC others(369): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0168 a0003c0006t0001g0168	1	426	0.0024	376	c.22 others(387): Show c.2279_*2280insATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2085		chr13	TogoVar
RPH3AL_chr17_207389_357807	255336	T T	TCCATCCC others(369): Show TCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCG CACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACT TCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACG TGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGG AGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0019 a0001c0003t0018g0019	1	133	0.0075	376	c.439 others(393): Show c.439-8052_439-8051insCCGTGCGGCTCCCCTCATAGGAAGTACG TAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCAGCTC CCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGA CAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTC CTAGGGATGGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAC GTTCCTAGGGATGGAAAAGGACAGACGCCGTGCAGCTCCCCTCATAGGAA GTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGACGCCGTGC GGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	287341	C C	CCTCTCTC others(369): Show CCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACC TCGCACGCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACC GTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTC CACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACACCCTCTC TCCACCGTCAGACCTCGCACGCTCTCTCTCCACCGTCAGACCTCACACCC TCTCTCCACCGTCAGACCTCGCACCCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	133	0.0075	376	c.352 others(393): Show c.352-5488_352-5487insAGGGTGCGAGGTCTGACGGTGGAGAGAG GGTGTGAGGTCTGACGGTGGAGAGAGAGCGTGCGAGGTCTGACGGTGGAG AGAGGGTGTGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGG AGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACG GTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCT GACGGTGGAGAGAGGGTGTGAGGTCTGACGGTGGAGAGAGAGCGTGCGAG GTCTGACGGTGGAGAGAGGGTGTGAGGTCTGACGGTGGAGAGAGGGTGCG AGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(369): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAG GGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGA AGAAGAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAG GAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAA GGAGGAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00558.hp2 others(45): Show HG00140.hp1 HG00323.hp1 HG00558.hp2 HG00642.hp1 HG00735.hp2 HG01074.hp2 HG01169.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG01981.hp1 HG02056.hp2 HG02083.hp1 HG02300.hp1 HG02602.hp2 HG03490.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp2 NA18612.hp2 NA18948.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18963.hp2 NA18972.hp1 NA18975.hp1 NA18978.hp2 NA18986.hp2 NA18993.hp2 NA18998.hp1 NA19003.hp2 NA19004.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0232 a0001c0001t0001g0236 others(43): Show a0001c0001t0001g0005 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0001g0322 a0001c0001t0002g0027 a0001c0001t0002g0059 a0001c0001t0002g0060	48	396	0.1212	376	c.807 others(393): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTC CCTCCTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCT CCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCT CCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar

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