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
FRMD3_chr9_83239622_83543401	83479630	A A	AAGAAAGA others(87): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0027 a0001c0002t0003g0027	1	242	0.0041	94	c.147 others(113): Show c.147+58454_147+58455insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD5_chr15_43865764_44200271	43999917	G G	GTATGTGT others(87): Show GTATGTGTATGTGTATATATATATATATATATGCCATGGCATATATATAT ATATATATATATATATATATATGCCATGGCATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0086 a0002c0005t0002g0086	1	146	0.0069	94	c.103 others(113): Show c.103-75609_103-75608insTATATATATATATATGCCATGGCATA TATATATATATATATATATATATATATATGCCATGGCATATATATATATA TATATACACATACACATA	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13			chr15	TogoVar
FRMD5_chr15_43865764_44200271	43999967	T T	TATATATA others(87): Show TATATATATATATATGCCATGCATATATATATATATATGCTATGCATATA TATATATATATATGCCATGCATATATATATATATATATGCCATGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0049 a0001c0001t0006g0049	1	146	0.0069	94	c.103 others(113): Show c.103-75659_103-75658insGCATGGCATATATATATATATATATG CATGGCATATATATATATATATATGCATAGCATATATATATATATATGCA TGGCATATATATATATAT	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13			chr15	TogoVar
FSTL5_chr4_161378897_162169000	161438125	A A	AAAAGAAG others(87): Show AAAAGAAGAATGAATTTCATTAAAGGCAGGAAGGGTGAAGAAATACTGGG AAAAGGCTATGGATGTAAAGAAATTTAACTTAAATAGCTGTCTAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp2 HG02895.hp2 others(3): Show HG02109.hp2 HG02572.hp2 HG02895.hp2 HG02976.hp2 HG03516.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0003t0001 a0001c0003t0013	a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0006g0141 others(3): Show a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0006g0141 a0001c0001t0013g0076 a0001c0003t0001g0041 a0001c0003t0013g0102	6	142	0.0423	94	c.184 others(115): Show c.1841+16785_1841+16878dupATAGACAGCTATTTAAGTTAAATT TCTTTACATCCATAGCCTTTTCCCAGTATTTCTTCACCCTTCCTGCCTTT AATGAAATTCATTCTTCTTT	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	15/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161783675	T T	TTCCCTTC others(87): Show TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	142	0.0070	94	c.410 others(111): Show c.410-7602_410-7601insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGGA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161783677	C C	CCCTTCCT others(87): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTCTTTCTTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	142	0.0070	94	c.410 others(111): Show c.410-7604_410-7603insAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGAAAGAGAAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGG	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161783677	C C	CCCTTCCT others(87): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0053 a0001c0003t0007g0053	1	142	0.0070	94	c.410 others(111): Show c.410-7604_410-7603insAAGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGAAAGGAAGGAAGG AAGGAAGGAAGGAAGG	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161783677	C C	CCCTTCCT others(87): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTCTTTCTTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0009	a0003c0005t0009g0128 a0003c0005t0009g0128	1	142	0.0070	94	c.410 others(111): Show c.410-7604_410-7603insAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAGAAAGGAAGGAAGG AAGGAAGGAAGGAAGG	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161992878	A A	ATGTGTGT others(87): Show ATGTGTGTATATATATATATATATGTATACATATATATACATATATGTAT ACATATATATACATATATATGTATACATATATATACATATATATG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02451.hp1 HG01069.hp2 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0081 a0001c0002t0003g0113 a0001c0002t0001g0081 a0001c0002t0003g0113	2	142	0.0141	94	c.160 others(113): Show c.160+40746_160+40747insCATATATATGTATATATATGTATACA TATATATGTATATATATGTATACATATATGTATATATATGTATACATATA TATATATATATACACACA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	3/15			chr4	TogoVar
GABRR3_chr3_97980102_98040315	97981942	C C	CTACACTT others(87): Show CTACACTTGGCCCCATCATTGACCAAAAATAGCGTTATGATTCAGCAGGG GATTGAAAGGAAGGAACAACTGACAATGTTGTTTTGACAATGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	382	0.0026	94	c.47 others(105): Show c.4740_*4741insCAGCATTGTCAAAACAACATTGTCAGTTGTTCCT TCCTTTCAATCCCCTGCTGAATCATAACGCTATTTTTGGTCAATGATGGG GCCAAGTGTA	GABRR3	ENSG00000183185.10	transcript	ENST00000472788.6	protein_coding		3159		chr3	TogoVar
GAL3ST2_chr2_241771822_241809287	241806758	A A	ACCCTCCC others(87): Show ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCC CTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0112 a0002c0002t0002g0112	1	314	0.0032	94	c.25 others(105): Show c.2592_*2593insCCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGC CACCCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2472		chr2	TogoVar
GAL3ST4_chr7_100154244_100173617	100172689	A A	ATATATAT others(87): Show ATATATATATGTGTGTGTGTGTGTATATATATATACGTGTATATATATGT ATATATACACGTATATATATGTGTATATATATGTATATATACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	402	0.0025	94	c.-43 others(105): Show c.-4333_-4332insCGTGTATATATACATATATATACACATATATATA CGTGTATATATACATATATATACACGTATATATATATACACACACACACA CATATATATA	GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding		4073		chr7	TogoVar
GALR1_chr18_77244848_77282900	77259018	T T	TTGGTGGT others(87): Show TTGGTGGTGGTCATGGTGGTCATGGTGGTGATGATGGTGGTCATGGTGGC GATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18995.hp2 HG03453.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0109 a0001c0001t0090 a0001c0001t0109	a0001c0001t0090g0110 a0001c0001t0109g0070 a0001c0001t0090g0110 a0001c0001t0109g0070	2	366	0.0055	94	c.732 others(111): Show c.732+2800_732+2801insGTGGTCATGGTGGTCATGGTGGTGATGA TGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGT CACAGTGGTGGTGGTG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259174	G G	GATGGTGG others(87): Show GATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTG GTCACAGTGGTGGTGATGTTGGTGTTGGTGGTGGTCATGGTGGTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01255.hp2 HG01516.hp2 others(10): Show HG00280.hp1 HG01255.hp2 HG01516.hp2 HG01517.hp1 HG02083.hp1 HG02602.hp1 HG03490.hp1 HG03491.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 NA19043.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0002t0004 a0001c0002t0030 a0001c0002t0054 a0001c0002t0137 a0001c0002t0139	a0001c0001t0003g0139 a0001c0001t0005g0336 a0001c0001t0006g0010 others(9): Show a0001c0001t0003g0139 a0001c0001t0005g0336 a0001c0001t0006g0010 a0001c0001t0006g0096 a0001c0002t0002g0145 a0001c0002t0004g0201 a0001c0002t0030g0140 a0001c0002t0030g0196 a0001c0002t0030g0197 a0001c0002t0054g0191 a0001c0002t0137g0194 a0001c0002t0139g0192	13	366	0.0355	94	c.732 others(111): Show c.732+2959_732+2960insCATGGTGGCGATTGTGGTGATGGTGGTG GATGGTGGTGGTGGTCACAGTGGTGGTGATGTTGGTGTTGGTGGTGGTCA TGGTGGTCATGGTGGT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259174	G G	GATGGTGG others(87): Show GATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTG GTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCATGATGGTC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	366	0.0027	94	c.732 others(111): Show c.732+2959_732+2960insCATGGTGGCGATTGTGGTGATGGTGGTG GATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCA TGATGGTCATGGTGGT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259174	G G	GATGGTGG others(87): Show GATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTG GTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCATGGTGGTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03688.hp1 HG04115.hp2 others(1): Show HG02258.hp2 HG03688.hp1 HG04115.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0074 a0001c0001t0003 a0001c0001t0010 a0001c0001t0074	a0001c0001t0003g0112 a0001c0001t0003g0254 a0001c0001t0010g0271 others(1): Show a0001c0001t0003g0112 a0001c0001t0003g0254 a0001c0001t0010g0271 a0001c0001t0074g0280	4	366	0.0109	94	c.732 others(111): Show c.732+2959_732+2960insCATGGTGGCGATTGTGGTGATGGTGGTG GATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCA TGGTGGTCATGGTGGT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259174	G G	GATGGTGG others(87): Show GATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTG GTCACAGTGGTGGTGGTTATGGTGGTGATGATGGTCATGGTGGTC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0292 a0001c0001t0084g0292	1	366	0.0027	94	c.732 others(111): Show c.732+2959_732+2960insCATGGTGGCGATTGTGGTGATGGTGGTG GATGGTGGTGGTGGTCACAGTGGTGGTGGTTATGGTGGTGATGATGGTCA TGGTGGTCATGGTGGT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GATA5_chr20_62458497_62480995	62473716	C C	CTTAGATG others(87): Show CTTAGATGTATTTTATTTTAAAATTTATTTGCTTACTTCATCTATTTTTA AATTTTTAATTCACATACGATAAAATTCGCTAAGGGTTGGTTTTT	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0027 a0027	a0027c0026 a0027c0026	a0027c0026t0004 a0027c0026t0004	a0027c0026t0004g0050 a0027c0026t0004g0050	1	382	0.0026	94	c.524 others(109): Show c.524-139_524-138insAAAAACCAACCCTTAGCGAATTTTATCGTA TGTGAATTAAAAATTTAAAAATAGATGAAGTAAGCAAATAAATTTTAAAA TAAAATACATCTAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	2/6			chr20	TogoVar
GATD1_chr11_762222_782487	763236	C C	CCCCGCCC others(87): Show CCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCC CCGCCCTCACCCATCCCCGCCCTCACCCGCCCCCGCCCTCACCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	430	0.0023	94	c.76 others(105): Show c.7660_*7661insCAGGTGAGGGCGGGGGCGGGTGAGGGCGGGGATG GGTGAGGGCGGGGGCGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGCGGG TGAGGGCGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3985		chr11	TogoVar
GBE1_chr3_81484703_81766645	81750659	G G	GTATATAT others(87): Show GTATATATATATATGTATATATATATATGTATATATATATATGTGTATAT ATATATATGTATATATATATATGTGTATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0019 a0003c0003t0004g0019	1	304	0.0033	94	c.143 others(113): Show c.143+10715_143+10716insTATACATATATATATATATACACATA TATATATATACATATATATATATACACATATATATATATACATATATATA TATACATATATATATATA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GLI3_chr7_41955949_42242209	42182662	A A	ATATATAT others(87): Show ATATATATATATATATATACATGTGTGTATATATATATATATATATATAT ATATATATATACATGTGTGTATATATATATATATATACATGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0012 a0001c0011t0012	a0001c0011t0012g0155 a0001c0011t0012g0155	1	158	0.0063	94	c.125 others(113): Show c.125-34195_125-34194insCACACATGTATATATATATATATATA CACACATGTATATATATATATATATATATATATATATATATACACACATG TATATATATATATATATA	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14			chr7	TogoVar
GLI3_chr7_41955949_42242209	42182683	C C	CATGTGTG others(87): Show CATGTGTGTGTGTATATATATATATATATATATATACATGTGTGTGTATA TATATATATATATATACATGTGTGTGTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0040 a0001c0001t0006g0040	1	158	0.0063	94	c.125 others(113): Show c.125-34216_125-34215insATATATATATATATATATACACACAC ATGTATATATATATATATATATACACACACATGTATATATATATATATAT ATATATACACACACACAT	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14			chr7	TogoVar
GMDS_chr6_1618806_2250605	1999970	T T	TTATATAT others(87): Show TTATATATATATTTTATATATATATTATATATATATTATATATATATAAA ATATTATATATATATTATATATATATATTTTATATATATATATTA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	166	0.0060	94	c.346 others(113): Show c.346-39005_346-39004insTAATATATATATATAAAATATATATA TATAATATATATATAATATTTTATATATATATAATATATATATAATATAT ATATAAAATATATATATA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(87): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0079 a0001c0001t0065g0079	1	366	0.0027	94	c.56 others(105): Show c.5654_*5655insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAATATATATATATATATATATATATATATATATATATATATATATA TATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GOLM2_chr15_44283719_44420758	44288418	G G	GAGAGAGA others(87): Show GAGAGAGAGAGAGAGAGAGAGCGAGCGAGCGAGCGAGAGAGAGCGAGAGA GAGCGATAGCGAGAGCGAGCGAGCGAGCGAGAGAGAACCCGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0117 a0002c0005t0003g0117	1	150	0.0067	94	c.-61 others(103): Show c.-612_-611insAGAGAGAGAGAGAGAGAGAGCGAGCGAGCGAGCGAG AGAGAGCGAGAGAGAGCGATAGCGAGAGCGAGCGAGCGAGCGAGAGAGAA CCCGGAGA	GOLM2	ENSG00000166734.20	transcript	ENST00000299957.11	protein_coding		300		chr15	TogoVar
GP6_chr19_55008705_55043264	55024309	T T	TGCACGCA others(87): Show TGCACGCACACACACACGCACGCATGCACACACACACGCACGCACACACA CATGCACGCACACATGCACGCATGCACACACATGCACGCACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0355 a0005c0006t0001g0355	1	441	0.0023	94	c.664 others(109): Show c.664+908_664+909insGTGTGTGCGTGCATGTGTGTGCATGCGTGC ATGTGTGCGTGCATGTGTGTGTGCGTGCGTGTGTGTGTGCATGCGTGCGT GTGTGTGTGCGTGC	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	5/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55024309	T T	TGCACGCA others(87): Show TGCACGCACACACACACGCACGCATGCACACACACACGCACGCACACGCA CATGCACGCACACATGCACGCATGCACACACATGCACGCACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0083 a0005c0006t0004g0083	1	441	0.0023	94	c.664 others(109): Show c.664+908_664+909insGTGTGTGCGTGCATGTGTGTGCATGCGTGC ATGTGTGCGTGCATGTGCGTGTGCGTGCGTGTGTGTGTGCATGCGTGCGT GTGTGTGTGCGTGC	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	5/7			chr19	TogoVar
GPALPP1_chr13_44984538_45035305	45018970	C C	CATATAAA others(87): Show CATATAAATATATATACATATATACATATAAATATATACACATATAAATA TATAAATATATATACATATAAATATATAAATATATACATATAAAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	348	0.0029	94	c.706 others(111): Show c.706-1339_706-1338insTACATATAAATATATACACATATAAATA TATAAATATATATACATATAAATATATAAATATATACATATAAATATATA AATATATATACATATA	GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPALPP1_chr13_44984538_45035305	45018970	C C	CATATAAA others(87): Show CATATAAATATATATACATATATACATATAAATATATATACATATAAATA TATAAATATATATACATATAAATATATAAATATATACATATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00438.hp1 others(98): Show HG00140.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01257.hp2 HG01433.hp2 HG01516.hp2 HG01943.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02258.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03239.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18959.hp2 NA18969.hp2 NA18970.hp2 NA18977.hp2 NA18978.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18991.hp2 NA18993.hp1 NA19001.hp1 NA19002.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19075.hp1 NA19077.hp1 NA19079.hp2 NA19088.hp2 NA19089.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028	a0001c0001t0001g0051 a0001c0001t0001g0086 a0001c0001t0001g0179 others(94): Show a0001c0001t0001g0051 a0001c0001t0001g0086 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0296 a0001c0001t0002g0017 a0001c0001t0002g0042 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0004g0008 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0261 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0275 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0285 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0294 a0001c0001t0004g0297 a0001c0001t0004g0312 a0001c0001t0005g0002 a0001c0001t0005g0017 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0052 a0001c0001t0005g0079 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0218 a0001c0001t0006g0262 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0268 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0006g0277 a0001c0001t0006g0283 a0001c0001t0006g0284 a0001c0001t0006g0293 a0001c0001t0006g0305 a0001c0001t0008g0192 a0001c0001t0008g0195 a0001c0001t0008g0204 a0001c0001t0008g0205 a0001c0001t0008g0206 a0001c0001t0008g0207 a0001c0001t0008g0208 a0001c0001t0008g0209 a0001c0001t0013g0214 a0001c0001t0013g0295 a0001c0001t0013g0300 a0001c0001t0014g0078 a0001c0001t0014g0199 a0001c0001t0016g0043 a0001c0001t0016g0044 a0001c0001t0024g0067 a0001c0001t0027g0267 a0001c0001t0028g0264	101	348	0.2902	94	c.706 others(111): Show c.706-1339_706-1338insTACATATAAATATATATACATATAAATA TATAAATATATATACATATAAATATATAAATATATACATATAAATATATA AATATATATACATATA	GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC2_chr7_100164606_100182381	100172689	A A	ATATATAT others(87): Show ATATATATATGTGTGTGTGTGTGTATATATATATACGTGTATATATATGT ATATATACACGTATATATATGTGTATATATATGTATATATACACG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	400	0.0025	94	c.893 others(109): Show c.893-473_893-472insCGTGTATATATACATATATATACACATATA TATACGTGTATATATACATATATATACACGTATATATATATACACACACA CACACATATATATA	GPC2	ENSG00000213420.8	transcript	ENST00000292377.4	protein_coding	5/9			chr7	TogoVar
GPHN_chr14_66503147_67186803	66683361	T T	TATATATG others(87): Show TATATATGTTCATATATATATGTTCATATATATATGTTCATATATATGTA TATGTTCATATATATGTACATATATATGTTCATATATATATGTTC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	234	0.0043	94	c.143 others(111): Show c.143+2182_143+2183insGTTCATATATATATGTTCATATATATAT GTTCATATATATGTATATGTTCATATATATGTACATATATATGTTCATAT ATATATGTTCATATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPR139_chr16_20023239_20078890	20041250	G G	GGAGAGGA others(87): Show GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01975.hp2 HG02145.hp2 others(11): Show HG01258.hp2 HG01975.hp2 HG02145.hp2 HG02523.hp1 HG02647.hp1 HG02723.hp2 HG02895.hp1 HG03139.hp1 HG03654.hp2 HG03834.hp2 HG03942.hp1 NA18747.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 others(6): Show a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0035 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0013	a0001c0001t0014g0112 a0001c0001t0018g0051 a0001c0001t0020g0254 others(11): Show a0001c0001t0014g0112 a0001c0001t0018g0051 a0001c0001t0020g0254 a0001c0001t0024g0252 a0001c0001t0035g0263 a0001c0002t0001g0009 a0001c0002t0001g0072 a0001c0002t0004g0219 a0001c0002t0004g0289 a0001c0002t0004g0307 a0001c0002t0004g0309 a0001c0002t0009g0290 a0001c0002t0009g0312 a0001c0002t0013g0133	14	364	0.0385	94	c.128 others(111): Show c.128-8582_128-8581insTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTC	GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1			chr16	TogoVar
GRHL1_chr2_9946693_10007277	9998483	T T	TATATATA others(87): Show TATATATACGTGTATATACGTATATATATACGTATATATATACATATATA CGTATATACGTATATATATACGTATATATATACGTATATATATAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	418	0.0024	94	c.167 others(111): Show c.1678-472_1678-471insGTATATACGTATATATATACGTATATAT ATACATATATACGTATATACGTATATATATACGTATATATATACGTATAT ATATACATATATACGT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998514	A A	ATATATAC others(87): Show ATATATACGTGTATATACGTATATATATACGTATATATATACATATATAC GTATATATATACGTATATATATACGTATATATATACATATATACG	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18991.hp2 HG00438.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0286 a0001c0001t0001g0159 a0001c0001t0001g0286	2	418	0.0048	94	c.167 others(111): Show c.1678-445_1678-444insCGTGTATATACGTATATATATACGTATA TATATACATATATACGTATATATATACGTATATATATACGTATATATATA CATATATACGTATATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998514	A A	ATATATAT others(87): Show ATATATATACATATATACGTATAAATATACGTATATATATACATATATAC GTATATATATACGTATATATATACGTATATATATACATATATACG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	418	0.0024	94	c.167 others(111): Show c.1678-435_1678-434insCGTATAAATATACGTATATATATACATA TATACGTATATATATACGTATATATATACGTATATATATACATATATACG TATATATACATATATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998514	A A	ATATATAT others(87): Show ATATATATACATATATACGTATATATATACGTATATATATACATATATAC GTATATATATACGTATATATATACGTATATATACACATATATACG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	418	0.0024	94	c.167 others(111): Show c.1678-435_1678-434insCGTATATATATACGTATATATATACATA TATACGTATATATATACGTATATATATACGTATATATACACATATATACG TATATATACATATATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998514	A A	ATATATAT others(87): Show ATATATATACATATATACGTATATATATACGTATATATATACATATATAC GTATATATATACGTATATATATACGTATATATATACATATATACG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01106.hp1 others(12): Show HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01175.hp1 HG01258.hp2 HG01516.hp1 HG02683.hp1 HG02698.hp2 HG03654.hp1 NA18948.hp2 NA18980.hp1 NA18984.hp1 NA19010.hp1 NA19058.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0016 a0001c0001t0001g0150 a0001c0001t0001g0248 others(10): Show a0001c0001t0001g0016 a0001c0001t0001g0150 a0001c0001t0001g0248 a0001c0001t0001g0281 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0332 a0001c0001t0009g0023 a0001c0001t0009g0289	15	418	0.0359	94	c.167 others(111): Show c.1678-435_1678-434insCGTATATATATACGTATATATATACATA TATACGTATATATATACGTATATATATACGTATATATATACATATATACG TATATATACATATATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRIA2_chr4_157215728_157371075	157248568	T T	TGTGTATA others(87): Show TGTGTATATATATATACGTGTATATATATACGTGTGTATATATATACGTG TATATATATACACGTGTATATATATACACGTGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp2 HG03041.hp1 others(5): Show HG02630.hp1 HG02886.hp2 HG03041.hp1 HG03098.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(5): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113	8	216	0.0370	94	c.229 others(113): Show c.229+26774_229+26775insTACGTGTATATATATACGTGTGTATA TATATACGTGTATATATATACACGTGTATATATATACACGTGTATATATA TACACGTGTATATATATA	GRIA2	ENSG00000120251.22	transcript	ENST00000264426.14	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRIA2_chr4_157215728_157371075	157248568	T T	TGTGTATA others(87): Show TGTGTATATATATATACGTGTATATATATACGTGTGTATATATATACGTG TATATATATACATGTGTATATATATACACGTGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp2 HG02622.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0040 a0001c0002t0001g0041	2	216	0.0093	94	c.229 others(113): Show c.229+26774_229+26775insTACGTGTATATATATACGTGTGTATA TATATACGTGTATATATATACATGTGTATATATATACACGTGTATATATA TACACGTGTATATATATA	GRIA2	ENSG00000120251.22	transcript	ENST00000264426.14	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRIA2_chr4_157215728_157371075	157248568	T T	TGTGTATA others(87): Show TGTGTATATATATATACGTGTATATATATATACGTGTGTATATATATACG TGTATATATATACACGTGTATATATATACGTGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01168.hp2 HG01169.hp1 others(1): Show HG00642.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013	4	216	0.0185	94	c.229 others(113): Show c.229+26774_229+26775insTACGTGTATATATATATACGTGTGTA TATATATACGTGTATATATATACACGTGTATATATATACGTGTATATATA TACACGTGTATATATATA	GRIA2	ENSG00000120251.22	transcript	ENST00000264426.14	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRIK4_chr11_120506748_120993906	120582072	G G	GCACACCA others(87): Show GCACACCACCATGCCTAGCTAATTTCTGTACTTTTAGTAGAAACAGGGTT TCTCCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAGTGAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0117 a0001c0002t0008g0117	1	128	0.0078	94	c.-15 others(115): Show c.-159+70186_-159+70187insACACCACCATGCCTAGCTAATTTC TGTACTTTTAGTAGAAACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTCA AACTTCTGACCTCAGTGATC	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRM5_chr11_88499642_89070982	88687571	A A	ATTATATA others(87): Show ATTATATATTATATATATATTATATATATTATATATATATTATATATATA TTATATATATTATATATATATTATATATATTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0064 a0001c0001t0030g0064	1	184	0.0054	94	c.912 others(113): Show c.912-34169_912-34168insATATATATATATATAATATATATAAT ATATATATAATATATATAATATATATATAATATATATATAATATATATAA TATATATATAATATATAA	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GSDMA_chr17_39958004_39982768	39965246	A A	AAGGGAGG others(87): Show AAGGGAGGGAGGGAGGGAGGGAAAGAAAGAAGGAAGGAAGGAAGAAAGGG AGGGAGGGAGGGAGGGAAAGAAAGAAGGAAGGAAGGAAGAAAGGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03579.hp2 HG02896.hp2 HG03579.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0013 a0003c0007t0013	a0003c0007t0013g0031 a0003c0007t0013g0031	2	438	0.0046	94	c.-5- others(107): Show c.-5-423_-5-422insGGAGGGAAAGAAAGAAGGAAGGAAGGAAGAAA GGGAGGGAGGGAGGGAGGGAAAGAAAGAAGGAAGGAAGGAAGAAAGGGAG GGAGGGAGGGAG	GSDMA	ENSG00000167914.12	transcript	ENST00000301659.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
GTPBP6_chrX_299759_323796	323563	T T	TGTGTGTA others(87): Show TGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTC ATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	155	0.0065	94	c.-47 others(105): Show c.-4777_-4776insGTCCCCTGAGCTCACCACCTGGGGACGCCCTCAT TCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGAC GGCTACACAC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4768		chrX	TogoVar
HAO2_chr1_119363785_119399130	119389137	C C	CATATATA others(87): Show CATATATATATATATATATATATATATATATATATATATATATACACGTA TATATATATGTGTATATATATATGTGTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0199 a0001c0002t0001g0199	1	428	0.0023	94	c.771 others(111): Show c.771+2337_771+2338insTATATATATATACACGTATATATATATG TGTATATATATATGTGTATATATATATATATATATATATATATATATATA TATATATATATATATA	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAO2_chr1_119363785_119399130	119389137	C C	CATATATA others(87): Show CATATATATATATATATATATATATATATATATATATATATATATACACG TATATATATATGTGTATATATATACGTGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0200 a0001c0002t0008g0200	1	428	0.0023	94	c.771 others(111): Show c.771+2337_771+2338insTATATATATATATACACGTATATATATA TGTGTATATATATACGTGTATATATATATATATATATATATATATATATA TATATATATATATATA	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAO2_chr1_119363785_119399130	119389137	C C	CATATATA others(87): Show CATATATATATATATATATATATATATATATATATATATATATATACACG TATATATATATGTGTATATATATATGTGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0214	1	428	0.0023	94	c.771 others(111): Show c.771+2337_771+2338insTATATATATATATACACGTATATATATA TGTGTATATATATATGTGTATATATATATATATATATATATATATATATA TATATATATATATATA	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAO2_chr1_119363785_119399130	119389137	C C	CATATATA others(87): Show CATATATATATATATATATATATATATATATATATATATATATATACACG TATATATATATGTGTATATATATATGTGTGTATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	428	0.0023	94	c.771 others(111): Show c.771+2337_771+2338insTATATATATATATACACGTATATATATA TGTGTATATATATATGTGTGTATATATATATATATATATATATATATATA TATATATATATATATA	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAO2_chr1_119363785_119399130	119389137	C C	CATATATA others(87): Show CATATATATATATATATATATATATATATATATATATATATATATATACA CGTATATATATATGTGTATATATATATGTGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02970.hp2 HG03688.hp1 others(2): Show HG01074.hp1 HG02970.hp2 HG03688.hp1 NA19078.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0151 a0001c0002t0001g0178 others(1): Show a0001c0002t0001g0053 a0001c0002t0001g0151 a0001c0002t0001g0178 a0001c0002t0001g0210	5	428	0.0117	94	c.771 others(111): Show c.771+2337_771+2338insTATATATATATATATACACGTATATATA TATGTGTATATATATATGTGTATATATATATATATATATATATATATATA TATATATATATATATA	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAO2_chr1_119363785_119399130	119389137	C C	CATATATA others(87): Show CATATATATATATATATATATATATATATATATATATATATATATATATA CACGTATATATATATGTGTATATATATATGTGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG04204.hp1 NA18956.hp1 others(1): Show HG01993.hp2 HG04204.hp1 NA18956.hp1 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0188 a0001c0002t0001g0220 a0001c0002t0001g0046 a0001c0002t0001g0188 a0001c0002t0001g0220	4	428	0.0094	94	c.771 others(111): Show c.771+2337_771+2338insTATATATATATATATATACACGTATATA TATATGTGTATATATATATGTGTATATATATATATATATATATATATATA TATATATATATATATA	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar

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