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
MBD3L2_chr19_7044321_7056735	7056612	T T	TCTCCAAA others(45): Show TCTCCAAATGCAGTGGACTTGAACCTTCTCCTTGGCTGCTGCAGGGCTGC AGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	258	0.0039	52	c.49 others(63): Show c.4990_*4991insCTCCAAATGCAGTGGACTTGAACCTTCTCCTTGG CTGCTGCAGGGCTGCAGG	MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding		4878		chr19	TogoVar
MBNL3_chrX_132364320_132494038	132396914	A A	ATTCATAT others(45): Show ATTCATATATATATTCATATATACATATATACATATATATTCATATATAT ATT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0025 a0001c0001t0044g0025	1	191	0.0052	52	c.343 others(69): Show c.343-4581_343-4580insAATATATATATGAATATATATGTATATA TGTATATATGAATATATATATGAA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT1_chr6_20094684_20217469	20111835	C C	CATATATA others(45): Show CATATATATACATATATATACATATATATACATATATATATACATATATA TAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03540.hp1 HG02486.hp2 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0009 a0003c0003t0001 a0003c0003t0009	a0003c0003t0001g0048 a0003c0003t0009g0133 a0003c0003t0001g0048 a0003c0003t0009g0133	2	336	0.0060	52	c.120 others(71): Show c.1209+1040_1209+1041insATATATATATGTATATATATATGTAT ATATATGTATATATATGTATATATAT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	11/12			chr6	TogoVar
MBOAT7_chr19_54168415_54194580	54181711	A A	AAGGGAGG others(45): Show AAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGA AGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03516.hp1 HG01884.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0282 a0001c0001t0001g0228 a0001c0001t0001g0282	2	373	0.0054	52	c.494 others(67): Show c.494-630_494-579dupCCTTCCTTCCCTCCTTCCCTCCCTCCCTCC TTCCTTCCCTCCTTCCCTCCCT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54181997	G G	GGGAAGGA others(45): Show GGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAGG GAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02004.hp2 HG02055.hp1 others(10): Show HG01243.hp1 HG02004.hp2 HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02647.hp2 HG02738.hp1 HG02895.hp2 HG02976.hp1 HG03225.hp2 HG03486.hp2 HG03579.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 a0002c0003t0001	a0001c0001t0001g0016 a0001c0001t0001g0232 a0001c0001t0001g0310 others(10): Show a0001c0001t0001g0016 a0001c0001t0001g0232 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0345 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0006t0001g0160 a0001c0006t0001g0161 a0001c0006t0001g0162 a0001c0007t0001g0353 a0002c0003t0001g0164	13	373	0.0349	52	c.494 others(67): Show c.494-865_494-864insTTCCCTCCTTCCTTCCCTCCTTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCC	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54188015	C C	CAAAAAGA others(45): Show CAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0217 a0001c0002t0002g0217	1	373	0.0027	52	c.206 others(67): Show c.206+201_206+202insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	3/7			chr19	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(45): Show AAAAAAAATATATATATATATATATATATATATATATATATATATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0286 a0001c0001t0034g0286	1	340	0.0029	52	c.41 others(63): Show c.4153_*4154insATATATATATATATATATATATATATATATATAT ATATATATATATTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(45): Show TTATATATATATATATATTTTTATATATATATATATATATATATTTATAT ATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp2 NA18949.hp2 HG03041.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0129 a0001c0001t0071 a0001c0001t0129	a0001c0001t0071g0197 a0001c0001t0129g0250 a0001c0001t0071g0197 a0001c0001t0129g0250	2	340	0.0059	52	c.10 others(63): Show c.1093_*1094insTATATATAAATATATATATATATATATATATAAA AATATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(45): Show TTATATATATATATATATTTTTATATATATATATATATATATTTATATAT ATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0130	a0001c0001t0130g0223 a0001c0001t0130g0223	1	340	0.0029	52	c.10 others(63): Show c.1093_*1094insTATATATATAAATATATATATATATATATATAAA AATATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(45): Show TTATATATATATATATATTTTTATATATATATATATATATTTATATTTAT ATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0126 a0001c0001t0126	a0001c0001t0126g0229 a0001c0001t0126g0229	1	340	0.0029	52	c.10 others(63): Show c.1093_*1094insTATATAAATATAAATATATATATATATATATAAA AATATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21862933	C C	CATATATA others(45): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0065 a0001c0002t0002g0065	1	308	0.0033	52	c.671 others(69): Show c.671-5499_671-5498insTATATATATATATATATATATATATATA TATATATATATATATATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MC2R_chr18_13877044_13920536	13887124	C C	CGGGGAAG others(45): Show CGGGGAAGCCTGTGTGCTGTGTCCCACCTGCTGGGGAAGCCTCGGGGATG GGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02129.hp2 HG02155.hp1 others(1): Show HG02015.hp1 HG02129.hp2 HG02155.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0028 a0001c0001t0009 a0001c0001t0028	a0001c0001t0009g0170 a0001c0001t0028g0232 a0001c0001t0028g0233 others(1): Show a0001c0001t0009g0170 a0001c0001t0028g0232 a0001c0001t0028g0233 a0001c0001t0028g0234	4	416	0.0096	52	c.-12 others(71): Show c.-128-1530_-128-1479dupTCCCATCCCCGAGGCTTCCCCAGCAG GTGGGACACAGCACACAGGCTTCCCC	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	1/1			chr18	TogoVar
MCC_chr5_113017106_113493453	113132427	C C	CATATATA others(45): Show CATATATATATACACACATACATATATATATACACACATACATATATATA TAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18998.hp1 HG01167.hp1 NA18998.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0006 a0002c0001 a0003c0006	a0002c0001t0002 a0003c0006t0002 a0002c0001t0002 a0003c0006t0002	a0002c0001t0002g0150 a0003c0006t0002g0015 a0002c0001t0002g0150 a0003c0006t0002g0015	2	160	0.0125	52	c.885 others(69): Show c.885-9602_885-9601insATATATATATATGTATGTGTGTATATAT ATATGTATGTGTGTATATATATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	5/18			chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(45): Show GCGCGCGCGCGCGCACACACACACACACACACACACACACACACACACAC ACA	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA18941.hp1 HG01071.hp1 NA18941.hp1	a0004 a0009 a0004 a0009	a0004c0004 a0009c0010 a0004c0004 a0009c0010	a0004c0004t0002 a0009c0010t0013 a0004c0004t0002 a0009c0010t0013	a0004c0004t0002g0112 a0009c0010t0013g0070 a0004c0004t0002g0112 a0009c0010t0013g0070	2	176	0.0114	52	c.130 others(71): Show c.1305+1239_1305+1240insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGCGCGCGCGCGCG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113061715	C C	CCTCCCTC others(45): Show CCTCCCTCTTCCCTTTCCCCTCCCTTCCCTCTCCCCCTTCCCCTCCCCTC CCT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0110 a0001c0006t0002g0110	1	116	0.0086	52	c.489 others(69): Show c.489+1008_489+1009insTCTTCCCTTTCCCCTCCCTTCCCTCTCC CCCTTCCCCTCCCCTCCCTCTCCC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCM9_chr6_118808455_118940159	118843641	C C	CATATATA others(45): Show CATATATATATATATATATATATACACGTATATATATATATATATATACG TGT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0019 a0001c0005t0010g0019	1	348	0.0029	52	c.132 others(73): Show c.1325+12729_1325+12730insACACGTATATATATATATATATAT ACGTGTATATATATATATATATATATAT	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843642	A A	ATATATAT others(45): Show ATATATATATATATATATATATACACGTATATATATATATATATATATAC GTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0017 a0001c0005t0002g0017	1	348	0.0029	52	c.132 others(73): Show c.1325+12728_1325+12729insCACGTATATATATATATATATATA TACGTGTATATATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843654	A A	ATATATAC others(45): Show ATATATACACGTATATATATATATATATATATATACGTGTATATATATAT ATG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03041.hp1 HG02970.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0035 a0001c0001t0002g0036	2	348	0.0058	52	c.132 others(73): Show c.1325+12716_1325+12717insCATATATATATATACACGTATATA TATATATATATATATATACGTGTATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843654	A A	ATATATAT others(45): Show ATATATATACACGTATATATATATATATATACACGTGTATATATATATAT ATG	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18906.hp1 NA20129.hp2 HG02109.hp1 NA18906.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0055 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0055	3	348	0.0086	52	c.132 others(73): Show c.1325+12716_1325+12717insCATATATATATATATACACGTGTA TATATATATATATATACGTGTATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843654	A A	ATATATAT others(45): Show ATATATATACACGTATATATATATATATATATATACGTGTATATATATAT ATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01346.hp1 HG00099.hp2 HG01346.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0030 a0004c0006t0002g0040 a0004c0006t0002g0030 a0004c0006t0002g0040	2	348	0.0058	52	c.132 others(73): Show c.1325+12716_1325+12717insCATATATATATATACACGTATATA TATATATATATATATACGTGTATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCOLN1_chr19_7517624_7539009	7518596	A A	AAAGAAAA others(45): Show AAAGAAAAGAAAGAAAAGAGAAGAAAGAAAGAAAAAGAAAGAAAGAAAGA AAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	52	c.-41 others(63): Show c.-4155_-4154insAAGAAAAGAAAGAAAAGAGAAGAAAGAAAGAAAA AGAAAGAAAGAAAGAAAG	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4027		chr19	TogoVar
MCTP2_chr15_94226561_94488952	94242954	T T	TATACACG others(45): Show TATACACGTGTATATGTGTATCTACACATACACGTGTATATGTGTATCTA CAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03491.hp2 HG04199.hp2 others(1): Show HG01496.hp2 HG03491.hp2 HG04199.hp2 NA18982.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0012 a0001c0001 a0001c0002 a0002c0012	a0001c0001t0002 a0001c0001t0018 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0018 a0001c0002t0001 a0002c0012t0027	a0001c0001t0002g0001 a0001c0001t0018g0111 a0001c0002t0001g0112 others(1): Show a0001c0001t0002g0001 a0001c0001t0018g0111 a0001c0002t0001g0112 a0002c0012t0027g0182	4	276	0.0145	52	c.-66 others(71): Show c.-66+11372_-66+11423dupCACGTGTATATGTGTATCTACACATA CACGTGTATATGTGTATCTACACATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MDGA1_chr6_37625679_37702883	37664842	G G	GACACACA others(45): Show GACACACACACACACACACACACACACACACACACACACACACACACACA CAC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18968.hp1 NA18943.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0056 a0001c0001t0004 a0001c0001t0056	a0001c0001t0004g0301 a0001c0001t0056g0050 a0001c0001t0004g0301 a0001c0001t0056g0050	2	402	0.0050	52	c.68- others(65): Show c.68-788_68-737dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGT	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	1/16			chr6	TogoVar
MDGA2_chr14_46835092_47680605	47335745	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATATATACA TAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	120	0.0083	52	c.281 others(71): Show c.281-34196_281-34195insGTATGTATATATATATATATATATAT ATATATATATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDM2_chr12_68803177_68850544	68833280	A A	AATATATA others(45): Show AATATATATATTTATATAAATATAAAAATATATTTATATAAATATATATA TTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18949.hp1 NA18954.hp1 HG02165.hp1 NA18949.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0073 a0001c0001t0001 a0001c0001t0073	a0001c0001t0001g0266 a0001c0001t0001g0301 a0001c0001t0073g0260 a0001c0001t0001g0266 a0001c0001t0001g0301 a0001c0001t0073g0260	3	388	0.0077	52	c.685 others(69): Show c.685-2544_685-2543insTATATTTATATAAATATAAAAATATATT TATATAAATATATATATTTATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(45): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0224 a0002c0004t0005g0224	1	272	0.0037	52	c.363 others(69): Show c.363-5797_363-5796insTATATATATATATATATATAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(45): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATAT ATA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0226 a0002c0004t0005g0226	1	272	0.0037	52	c.363 others(69): Show c.363-5797_363-5796insTATATATATATATATAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
MED12L_chr3_151080664_151441653	151239444	C C	CATGGAAG others(45): Show CATGGAAGTGGATATGAGAATCCAACTGTCTTCTCTAGGCCAGATGTTAA AGA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0078 a0002c0003t0004g0078	1	280	0.0036	52	c.225 others(73): Show c.2250+45779_2250+45830dupATGGAAGTGGATATGAGAATCCAA CTGTCTTCTCTAGGCCAGATGTTAAAGA	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED13L_chr12_115953576_116282693	116124148	G G	GAGAGAGA others(45): Show GAGAGAGAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGACAGAGAGA GAC	intron_variant intron_variant	MODIFIER	NA19079.hp2 homoSapiens_chm13v2.hp1 NA19079.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0082 a0001c0002t0002g0039 a0001c0002t0002g0082	2	254	0.0079	52	c.311 others(71): Show c.311-12637_311-12636insGTCTCTCTCTGTCTCTCTCTGTCTCT CTCTGTCTCTGTCTCTCTCTCTCTCT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116124148	G G	GAGAGAGA others(45): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGACAGAGAGA GAC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	254	0.0039	52	c.311 others(71): Show c.311-12637_311-12636insGTCTCTCTCTGTCTCTCTCTGTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MELTF_chr3_196996740_197034817	197033774	T T	TGGGTGTG others(45): Show TGGGTGTGAGCACCTGCAGTCGTGTGATGTCAGAAGATTTTACACTCTTG CTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 NA19077.hp1 HG00609.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0155 a0001c0002t0001g0040 a0001c0002t0001g0155	2	420	0.0048	52	c.-40 others(63): Show c.-4073_-4072insCAGCAAGAGTGTAAAATCTTCTGACATCACACGA CTGCAGGTGCTCACACCC	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		3958		chr3	TogoVar
METAP1D_chr2_171994953_172087430	172042734	T T	TGTGTGTG others(45): Show TGTGTGTGTATATGTACACATATACGTGTGTGTGTGTATATGTACACATA TAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01243.hp2 others(12): Show HG00733.hp2 HG01109.hp1 HG01243.hp2 HG01496.hp1 HG02622.hp2 HG02738.hp2 HG03017.hp2 HG03041.hp2 HG03491.hp2 HG03654.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0024 a0001c0001t0002g0014 a0001c0001t0003g0009 others(12): Show a0001c0001t0001g0024 a0001c0001t0002g0014 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0143	15	356	0.0421	52	c.41- others(69): Show c.41-18756_41-18755insATATGTACACATATACGTGTGTGTGTGT ATATGTACACATATACGTGTGTGT	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
METTL23_chr17_76721839_76738880	76728306	T T	TTGTTTTT others(45): Show TTGTTTTTGACCCGGACGCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAG TGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02735.hp2 HG02602.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	2	412	0.0049	52	c.-22 others(69): Show c.-22+1128_-22+1129insTGTTTTTGACCCGGACGCTCGCTCTGTT GCCCAGGCTGGAGTGCAGTAGTGG	METTL23	ENSG00000181038.14	transcript	ENST00000341249.11	protein_coding	1/4			chr17	TogoVar
METTL23_chr17_76721839_76738880	76728306	T T	TTGTTTTT others(45): Show TTGTTTTTGACCCGGACGCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGG TGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp1 HG02717.hp2 others(4): Show HG01891.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG03209.hp1 HG03471.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0033 others(1): Show a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0033 a0001c0001t0002g0034	7	412	0.0170	52	c.-22 others(69): Show c.-22+1128_-22+1129insTGTTTTTGACCCGGACGCTCGCTCTGTT GCCCAGGCTGGAGTGCAGTGGTGG	METTL23	ENSG00000181038.14	transcript	ENST00000341249.11	protein_coding	1/4			chr17	TogoVar
METTL8_chr2_171310746_171438990	171363792	T T	TTATATAT others(45): Show TTATATATATATATATATATATATGTATATATATATATATATATATATGT ATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02976.hp2 HG03209.hp1 others(1): Show HG01261.hp1 HG02976.hp2 HG03209.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0090 a0001c0002t0092 a0001c0002t0033 a0001c0002t0090 a0001c0002t0092	a0001c0002t0033g0324 a0001c0002t0033g0330 a0001c0002t0090g0323 others(1): Show a0001c0002t0033g0324 a0001c0002t0033g0330 a0001c0002t0090g0323 a0001c0002t0092g0321	4	332	0.0121	52	c.144 others(69): Show c.144-3280_144-3279insTATACATATATATATATATATATATATA CATATATATATATATATATATATA	METTL8	ENSG00000123600.21	transcript	ENST00000375258.9	protein_coding	2/9			chr2	TogoVar
MFGE8_chr15_88893683_88918379	88897514	T T	TGGCCCCA others(45): Show TGGCCCCACCTCCTGCTGCTCAGAGGCGGCCCCACCTCCTGCTGCTCAGA GGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00733.hp1 others(9): Show HG00099.hp2 HG00642.hp1 HG00733.hp1 HG01071.hp1 HG01258.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03490.hp1 HG03704.hp2 HG04184.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0003c0004 a0001c0003 a0002c0001 a0003c0004	a0001c0003t0004 a0002c0001t0001 a0003c0004t0004 others(1): Show a0001c0003t0004 a0002c0001t0001 a0003c0004t0004 a0003c0004t0010	a0001c0003t0004g0137 a0001c0003t0004g0138 a0001c0003t0004g0141 others(6): Show a0001c0003t0004g0137 a0001c0003t0004g0138 a0001c0003t0004g0141 a0002c0001t0001g0054 a0003c0004t0004g0012 a0003c0004t0004g0070 a0003c0004t0004g0081 a0003c0004t0010g0028 a0003c0004t0010g0244	12	436	0.0275	52	c.18 others(63): Show c.1880_*1881insGCCTCTGAGCAGCAGGAGGTGGGGCCGCCTCTGA GCAGCAGGAGGTGGGGCC	MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding		1168		chr15	TogoVar
MFGE8_chr15_88893683_88918379	88915904	A A	ATATATAT others(45): Show ATATATATATGTATATATATGTGTATATATATATACATATATATATATAT ATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0020	1	436	0.0023	52	c.-25 others(63): Show c.-2586_-2585insCATATATATATATATATGTATATATATATACACA TATATATACATATATATA	MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding		2526		chr15	TogoVar
MGARP_chr4_139261165_139285225	139262411	T T	TTAGATAT others(45): Show TTAGATATATATATATAAGAAATTCTTAAAATATATATATTCTTATATAT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	364	0.0028	52	c.41 others(63): Show c.4187_*4188insTATATATATAAGAATATATATATTTTAAGAATTT CTTATATATATATATCTA	MGARP	ENSG00000137463.5	transcript	ENST00000398955.2	protein_coding		3753		chr4	TogoVar
MICALL2_chr7_1429359_1464470	1432697	G G	GCACGGGG others(45): Show GCACGGGGCTGAGATCCCAGGGGGACCCACGGGGCTGAGATCCCAGGGGG ACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01884.hp2 others(14): Show HG00639.hp2 HG01081.hp1 HG01884.hp2 HG02273.hp2 HG02293.hp2 HG02630.hp1 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03516.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1	a0002 a0003 a0008 others(6): Show a0002 a0003 a0008 a0009 a0011 a0019 a0030 a0047 a0052	a0002c0003 a0003c0004 a0008c0020 others(7): Show a0002c0003 a0003c0004 a0008c0020 a0008c0032 a0009c0015 a0011c0055 a0019c0018 a0030c0088 a0047c0043 a0052c0083	a0002c0003t0001 a0002c0003t0002 a0003c0004t0002 others(9): Show a0002c0003t0001 a0002c0003t0002 a0003c0004t0002 a0003c0004t0003 a0008c0020t0003 a0008c0032t0003 a0009c0015t0003 a0011c0055t0003 a0019c0018t0003 a0030c0088t0001 a0047c0043t0003 a0052c0083t0003	a0002c0003t0001g0176 a0002c0003t0002g0175 a0002c0003t0002g0177 others(14): Show a0002c0003t0001g0176 a0002c0003t0002g0175 a0002c0003t0002g0177 a0003c0004t0002g0042 a0003c0004t0002g0066 a0003c0004t0002g0090 a0003c0004t0003g0062 a0008c0020t0003g0165 a0008c0032t0003g0017 a0009c0015t0003g0250 a0009c0015t0003g0251 a0011c0055t0003g0128 a0019c0018t0003g0130 a0019c0018t0003g0131 a0030c0088t0001g0037 a0047c0043t0003g0063 a0052c0083t0003g0052	17	280	0.0607	52	c.18 others(63): Show c.1847_*1898dupGGTCCCCCTGGGATCTCAGCCCCGTGGGTCCCCC TGGGATCTCAGCCCCGTG	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding		1661		chr7	TogoVar
MICU1_chr10_72362340_72631079	72535012	T T	TTTTTATA others(45): Show TTTTTATATTTTATTATTTTATTTTATCTCATCTTATCTTATCTTATCTT ATC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02258.hp2 HG03130.hp1 others(2): Show HG01433.hp2 HG02258.hp2 HG03130.hp1 HG03453.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0097 others(2): Show a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0097 a0001c0001t0002g0104 a0001c0001t0002g0106	5	208	0.0240	52	c.494 others(69): Show c.494-1224_494-1223insGATAAGATAAGATAAGATAAGATGAGAT AAAATAAAATAATAAAATATAAAA	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	4/11			chr10	TogoVar
MICU1_chr10_72362340_72631079	72535012	T T	TTTTTATA others(45): Show TTTTTATATTTTATTATTTTATTTTATCTTATCTTATCTTATCTTATCTT ATC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 NA18906.hp2 HG01884.hp1 HG02451.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100	3	208	0.0144	52	c.494 others(69): Show c.494-1224_494-1223insGATAAGATAAGATAAGATAAGATAAGAT AAAATAAAATAATAAAATATAAAA	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	4/11			chr10	TogoVar
MINAR1_chr15_79427336_79477304	79438488	T T	TGGGTAGT others(45): Show TGGGTAGTGAGTGTGTGGGGTGTGTGTAGGTAGTGAGTGTATGGGTGTGG GTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0005 a0003c0031t0005	a0003c0031t0005g0178 a0003c0031t0005g0178	1	390	0.0026	52	c.-51 others(69): Show c.-51+5952_-51+5953insAGTGAGTGTGTGGGGTGTGTGTAGGTAG TGAGTGTATGGGTGTGGGTGGGGT	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MISFA_chr11_18594789_18608883	18607203	G G	GCACACAT others(45): Show GCACACATGTAAGGCCGCCTGTGACATGTGGTACCCTGGCCTCCAACTGG ACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	52	c.34 others(63): Show c.3448_*3449insCACACATGTAAGGCCGCCTGTGACATGTGGTACC CTGGCCTCCAACTGGACA	MISFA	ENSG00000247595.5	transcript	ENST00000635674.2	protein_coding		3321		chr11	TogoVar
MITF_chr3_69734464_69973332	69793493	G G	GATGCTCA others(45): Show GATGCTCATAGCATGCACCCTCTCCCAATGCTCATAGCATGCACCCTCTC CCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp2 HG00735.hp1 others(38): Show HG00438.hp2 HG00733.hp2 HG00735.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01981.hp2 HG02074.hp2 HG02145.hp1 HG02293.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03490.hp2 HG03491.hp2 HG03834.hp2 NA18953.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19007.hp2 NA19012.hp1 NA19064.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(38): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0152 a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0151 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0127 a0001c0001t0004g0055 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0005g0023 a0001c0001t0005g0063 a0001c0001t0007g0069 a0001c0001t0009g0078 a0001c0001t0009g0079 a0001c0001t0010g0013 a0001c0001t0010g0017	41	178	0.2303	52	c.104 others(71): Show c.104+53800_104+53851dupTAGCATGCACCCTCTCCCAATGCTCA TAGCATGCACCCTCTCCCAATGCTCA	MITF	ENSG00000187098.18	transcript	ENST00000352241.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MKX_chr10_27667874_27750819	27711494	T T	TCTTTCTT others(45): Show TCTTTCTTTTTCTTTCTCTCTCTCTCTCTCTCTCTCCCTTCCTTCCTTCC TTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0222 a0001c0001t0006g0222	1	354	0.0028	52	c.838 others(71): Show c.838+22961_838+22962insGAAGGAAGGAAGGAAGGGAGAGAGAG AGAGAGAGAGAGAAAGAAAAAGAAAG	MKX	ENSG00000150051.14	transcript	ENST00000419761.6	protein_coding	5/6			chr10	TogoVar
MLANA_chr9_5885889_5915606	5907922	C C	CCCAACAC others(45): Show CCCAACACAACGCCCCCCGCCAAAAAAATACAACAAACAAAATAGAAAAA AAA	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	424	0.0024	52	c.289 others(67): Show c.289-718_289-717insCCAACACAACGCCCCCCGCCAAAAAAATAC AACAAACAAAATAGAAAAAAAA	MLANA	ENSG00000120215.10	transcript	ENST00000381477.8	protein_coding	4/4			chr9	TogoVar
MLPH_chr2_237482251_237560322	237543103	G G	GGTGAGTT others(45): Show GGTGAGTTGGGGGACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGCACG GTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp2 HG02970.hp1 others(2): Show HG02723.hp2 HG02896.hp2 HG02970.hp1 HG03139.hp1 HG03486.hp1	a0002 a0003 a0002 a0003	a0002c0008 a0003c0003 a0002c0008 a0003c0003	a0002c0008t0002 a0002c0008t0003 a0003c0003t0002 a0002c0008t0002 a0002c0008t0003 a0003c0003t0002	a0002c0008t0002g0092 a0002c0008t0002g0093 a0002c0008t0003g0024 others(2): Show a0002c0008t0002g0092 a0002c0008t0002g0093 a0002c0008t0003g0024 a0003c0003t0002g0110 a0003c0003t0002g0257	5	286	0.0175	52	c.153 others(69): Show c.1539+450_1539+451insTGGGGGACAGTAGTGAGTGGGGGGACAG TGGTGAGTGGGCACGGTAGTGAGT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543426	G G	GACAGTGG others(45): Show GACAGTGGTGAGTGGGGAACAGTGGTGAGTGGGGGACAGTGGTGAGTGGG GGC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	286	0.0035	52	c.153 others(69): Show c.1539+784_1539+785insACAGTGGTGAGTGGGGGACAGTGGTGAG TGGGGGCACAGTGGTGAGTGGGGA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543527	G G	GGGCACGG others(45): Show GGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGCA AGT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	286	0.0035	52	c.153 others(69): Show c.1539+870_1539+871insCACGGTGGTGAGTGGAGGGGACAGTGGT GAGTGGGGGGACAGTGGCAAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543630	G G	GGGGACAG others(45): Show GGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGT GGA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	286	0.0035	52	c.153 others(69): Show c.1539+974_1539+975insACAGTGGTGAGTGGGGGGACAGTGGCAA GTGGGCACGGTGGTGAGTGGAGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar

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