Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
IVD_chr15_40400795_40426308	40422766	A A	ATTTTTGT others(175): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(155): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG03017.hp2 HG03239.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19072.hp1 NA19072.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(55): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0104 a0001c0001t0003g0006 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0031 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0006g0008 a0001c0001t0012g0011 a0001c0001t0013g0003 a0001c0001t0013g0068 a0001c0001t0015g0007 a0001c0001t0016g0051 a0001c0001t0017g0001 a0001c0001t0019g0003 a0001c0001t0020g0007 a0003c0004t0001g0058	158	378	0.4180	182	c.45 others(193): Show c.4503_*4504insTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding		1459		chr15	TogoVar
JAKMIP3_chr10_132060946_132189858	132159794	T T	TGCGGGGG others(175): Show TGCGGGGGGGTCTATTCCTGTGTCTTACTGGGGGGGCCTCTCCCTGTGTG ATGCTGGGGAGCCTCTTCCAGTGTGATGCTGGGGGGGTCTCTTCCTGTGT GATGCTGGGGGGCCTCTCGCTGTGTGATGCTGGGGGGCCTCTCCCTGTGT GATGCTGGGGGAGTCTCTTCCTGTGTGATGCTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0106 a0002c0026t0001g0106	1	158	0.0063	182	c.222 others(201): Show c.2221-3414_2221-3413insCGGGGGGGTCTATTCCTGTGTCTTAC TGGGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCAGTGTGATG CTGGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGCCTCTCGCTGTGTGAT GCTGGGGGGCCTCTCCCTGTGTGATGCTGGGGGAGTCTCTTCCTGTGTGA TGCTGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JPH2_chr20_44101590_44192188	44134467	T T	TAATATAT others(175): Show TAATATATATAATATATATTTATTAATATATAATAAATATATATTTATAA TATATATAAATAAATATATATTTATAATAAATAAATATAAATATATATTT ATTTATATAAATAAATATATATTTATTTATATAAATAAATATATATTTAT TATATATAAATAAATATATATTTATTTATATAA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0132 a0001c0001t0009g0132	1	338	0.0030	182	c.117 others(203): Show c.1170-15845_1170-15844insTTATATAAATAAATATATATTTAT TTATATATAATAAATATATATTTATTTATATAAATAAATATATATTTATT TATATAAATAAATATATATTTATATTTATTTATTATAAATATATATTTAT TTATATATATTATAAATATATATTTATTATATATTAATAAATATATATTA TATATATT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KALRN_chr3_124028369_124731325	124109999	G G	GATATATA others(175): Show GATATATATATGACATATATGTCATACTTTGATATATATATGACATATAT GTCATACTTTGATATATATATGACATATATGTCATACTTTGCTATATATA TGACATATATGTCATACTTTGCTATATATATGACATATATGTCATACTTT GCTATATATATGACATATATGTCATACTTTGCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0005 a0005	a0005c0048 a0005c0048	a0005c0048t0003 a0005c0048t0003	a0005c0048t0003g0007 a0005c0048t0003g0007	1	116	0.0086	182	c.73+ others(199): Show c.73+76194_73+76195insATGACATATATGTCATACTTTGATATAT ATATGACATATATGTCATACTTTGATATATATATGACATATATGTCATAC TTTGCTATATATATGACATATATGTCATACTTTGCTATATATATGACATA TATGTCATACTTTGCTATATATATGACATATATGTCATACTTTGCTATAT ATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KATNIP_chr16_27545144_27785344	27713728	T T	TATATATA others(175): Show TATATATACACATACATATTATATATATGTGTGTGTATATATATACACAT ACATATTATATATGTGTGTGTATATATATACACATACATATTATATATGT GTGTGTATATATATACACATACATATTATATATATGTGTGTGTATATATA TACACATACATATTATATATATGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03195.hp1 HG03041.hp2 HG03195.hp1	a0004 a0010 a0004 a0010	a0004c0030 a0010c0017 a0004c0030 a0010c0017	a0004c0030t0005 a0010c0017t0005 a0004c0030t0005 a0010c0017t0005	a0004c0030t0005g0115 a0010c0017t0005g0150 a0004c0030t0005g0115 a0010c0017t0005g0150	2	152	0.0132	182	c.160 others(201): Show c.1605+4808_1605+4809insATATATACACATACATATTATATATA TGTGTGTGTATATATATACACATACATATTATATATGTGTGTGTATATAT ATACACATACATATTATATATGTGTGTGTATATATATACACATACATATT ATATATATGTGTGTGTATATATATACACATACATATTATATATATGTGTG TGTATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27			chr16	TogoVar
KCNJ6_chr21_37602373_37921457	37757055	A A	AGAGTGAG others(175): Show AGAGTGAGCTCTCCCTCACAGCGTGATGATTCCAGCCCAGAGTGAGCACT CCCTCACAGCGTGATGATTCCAGCCTGGAGTGAGCACTCCCTCACAGCGT GATGATTCCAGCCCGGAGTGAGCACTCCCTCACAGCATGATGGTTCCAGC CCAAGTGAGCACTCCCTCACAGATTCCAGCCCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0105	a0001c0001t0105g0084 a0001c0001t0105g0084	1	198	0.0051	182	c.26- others(199): Show c.26-41925_26-41924insCGGGCTGGAATCTGTGAGGGAGTGCTCA CTTGGGCTGGAACCATCATGCTGTGAGGGAGTGCTCACTCCGGGCTGGAA TCATCACGCTGTGAGGGAGTGCTCACTCCAGGCTGGAATCATCACGCTGT GAGGGAGTGCTCACTCTGGGCTGGAATCATCACGCTGTGAGGGAGAGCTC ACTC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar
KCNMB2_chr3_178531436_178849429	178757996	T T	TCCAAGAG others(175): Show TCCAAGAGGATATATATATATATCTCCAAGAGGATATATATATATACACA AGAGGATATATATATATACACACAAGAGGATATATATATGTACACACAAG AGGATATATATATATATATATCCAAGAGGATATATATATATATATCCAAG AGGATATATATATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	232	0.0043	182	c.-67 others(201): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATATACACACAAGA GGATATATATATGTACACACAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATCCAAGAGGATATATATATATATATATATATCC AAGAGG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KIAA0825_chr5_94145851_94623604	94608454	T T	TATATATA others(175): Show TATATATATATTATATATATATATTATATATATAATATATATTATATATA TAATATATATATTATATATATAAAATATATATATTATATATATAATATAT ATTATATATATATTATATATATAAAATATATATATTATATATATAATATA TATTATATATATAATATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0029 a0001c0004t0033g0029	1	54	0.0185	182	c.-15 others(203): Show c.-153+10045_-153+10046insTATATATATAATATATATATTATA TATATAATATATATTATATATATAATATATATATTTTATATATATAATAT ATATATAATATATATTATATATATAATATATATATTTTATATATATAATA TATATATTATATATATAATATATATTATATATATAATATATATATATAAT ATATATAT	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20			chr5	TogoVar
KIAA0825_chr5_94145851_94623604	94608454	T T	TGTGTGTG others(175): Show TGTGTGTGTGTGTGTGTGTGTGTATATATATATATTATATATATATATTA TATATATATAATATATATTATATATATAATATATATATTATATATATAAA ATATATATATATAATATATATTATATATATAATATATATATTTTATATAT AATATATATATAATTATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0032 a0002c0008t0032	a0002c0008t0032g0014 a0002c0008t0032g0014	1	54	0.0185	182	c.-15 others(203): Show c.-153+10045_-153+10046insTATATATATAATATATATAATTAT ATATATATTATATATAAAATATATATATTATATATATAATATATATTATA TATATATATTTTATATATATAATATATATATTATATATATAATATATATT ATATATATATAATATATATATATAATATATATATATACACACACACACAC ACACACAC	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20			chr5	TogoVar
KLHL23_chr2_169728832_169756878	169749968	T T	TATATGTG others(175): Show TATATGTGTATATATACGTATGTATGTATACATATATGTGTATATATACG TATGTATGTATACATATATGTGTATATATACGTATGTATACATATATGTG TATATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATA CATATATGTGTATATATACGTATGTATGTATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 HG02630.hp2 HG02647.hp1 others(1): Show HG02486.hp1 HG02630.hp2 HG02647.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0060 a0001c0001t0024g0061 a0001c0001t0024g0062 others(1): Show a0001c0001t0024g0060 a0001c0001t0024g0061 a0001c0001t0024g0062 a0001c0001t0024g0063	4	400	0.0100	182	c.24 others(191): Show c.240_*241insGTGTATATATACGTATGTATGTATACATATATGTGT ATATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATAC ATATATGTGTATATATACGTATGTATGTATACATATATGTGTATATATAC GTATGTATACATATATGTGTATATATACGTATGTATGTATACATAT	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	241	INFO_REALIGN_3_PRIME	chr2	TogoVar
KYNU_chr2_142872664_143060833	143046570	A A	ATATATCT others(175): Show ATATATCTATATATCTATATAAATATATATATATCTATATATCTATATAA ATATATATATATCTATATATCTATATAAATATATATATATCTATATATCT ATATAAATATATATATATCTATATATCTATATAAATATATATATATCTAT ATATCTATATAAATATATATATATCTATATATC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18962.hp1 NA18980.hp1 NA19007.hp1 others(1): Show NA18962.hp1 NA18980.hp1 NA19007.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0071 a0002c0002t0018 a0002c0002t0071	a0002c0002t0018g0130 a0002c0002t0018g0209 a0002c0002t0018g0210 others(1): Show a0002c0002t0018g0130 a0002c0002t0018g0209 a0002c0002t0018g0210 a0002c0002t0071g0316	4	332	0.0121	182	c.44 others(193): Show c.4401_*4402insATCTATATATCTATATAAATATATATATATCTAT ATATCTATATAAATATATATATATCTATATATCTATATAAATATATATAT ATCTATATATCTATATAAATATATATATATCTATATATCTATATAAATAT ATATATATCTATATATCTATATAAATATATATATATCTATATATCTAT	KYNU	ENSG00000115919.15	transcript	ENST00000264170.9	protein_coding	14/14	4402	INFO_REALIGN_3_PRIME	chr2	TogoVar
LAMA2_chr6_128878138_129521566	129200312	A A	ATACACGT others(175): Show ATACACGTGTACACATATACATGTGTATATATATATACACGTGTACACAT ATACATGTGTATATATATATACGTGTACACATATACATGTGTATATATAT ATACGTGTACACATATACATATACACGTATATGTGTACACATATACATAT ACACGTATATGTGTACACATATACATATACACG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0020 a0020	a0020c0023 a0020c0023	a0020c0023t0002 a0020c0023t0002	a0020c0023t0002g0086 a0020c0023t0002g0086	1	88	0.0114	182	c.178 others(201): Show c.1782+7461_1782+7462insCACGTGTACACATATACATGTGTATA TATATATACACGTGTACACATATACATGTGTATATATATATACGTGTACA CATATACATGTGTATATATATATACGTGTACACATATACATATACACGTA TATGTGTACACATATACATATACACGTATATGTGTACACATATACATATA CACGTA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMC1_chr1_183018420_183150592	183149878	T T	TGTCCTCC others(175): Show TGTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCAC AGAGCCCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCT CACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACA CCCCTGTCCTCCTCACACACCACACAGCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA19000.hp2 NA18948.hp2 NA19000.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0300 a0001c0003t0003g0301 a0001c0003t0003g0300 a0001c0003t0003g0301	2	308	0.0065	182	c.70 others(193): Show c.7088_*7089insGTCCTCCTCACACACCACACAGCCCACACCCCTC TCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGC TCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACAC ACCACACAGCTCACACCCCTGTCCTCCTCACACACCACACAGCCCACA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4287		chr1	TogoVar
LMF1_chr16_848634_975984	911619	T T	TGGGGGGC others(175): Show TGGGGGGCAGCAATGGGGGGGCAGCACTGGGGGGGCAGCACTGGGGGAGC AGCACTGGGGGAGCAGCACTGGGGAGGCAGCACTGGGGAGGCAGCACTGG GGGGGCAGCACTGGGGGGGCAGCACTTGGGGGGGGCAGCACTGGGGAGGC AGCACTGGGGGGGCAGCACTGGGGGGGCAGCAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0053 a0001c0004t0001g0053	1	294	0.0034	182	c.515 others(197): Show c.515-541_515-540insGTGCTGCCCCCCCAGTGCTGCCCCCCCAGT GCTGCCTCCCCAGTGCTGCCCCCCCCAAGTGCTGCCCCCCCAGTGCTGCC CCCCCAGTGCTGCCTCCCCAGTGCTGCCTCCCCAGTGCTGCTCCCCCAGT GCTGCTCCCCCAGTGCTGCCCCCCCAGTGCTGCCCCCCCATTGCTGCCCC CC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
LMF1_chr16_848634_975984	953169	C C	CCACACAC others(175): Show CCACACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCA AACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCT GCACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACAC AGACACCCACCCCAAACCAGCCTCCTACACGTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	294	0.0034	182	c.503 others(199): Show c.503+1187_503+1188insAACGTGTAGGAGGCTGGTTTGGGGTGGG TGTCTGTGTGGACATGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGA CGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTTTGGGGTGTCTGTGTGGACGTGCAGGAGGCTGGTTTGGGGTGGGTG TGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LOC400499_chr16_11367015_11532247	11494097	T T	TGGGGGGC others(175): Show TGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGG GGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCG TGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGG GGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0025 a0025	a0025c0184 a0025c0184	a0025c0184t0004 a0025c0184t0004	a0025c0184t0004g0288 a0025c0184t0004g0288	1	310	0.0032	182	c.143 others(199): Show c.1432-302_1432-301insCCACGCCACTGCCCCGCCCCCCACGCCA CTGCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCC CCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCA CTGCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCC CCCC	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LRRC27_chr10_132327193_132386508	132352489	G G	GCAGGTGC others(175): Show GCAGGTGCAGCGCTCCGTGTGGGGCAGATGCTGAGGCCTCCGTGTGGGGC AGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGC AGGCGCTGAGGCCTCCGTGTGGGGCAGGTGCAGCGCTCGTGGTCTGCAGG GCGTTGCGTGCATGGGCTCCCTTGTTTGTAGCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03579.hp2 HG02965.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0047 a0001c0001t0002 a0001c0001t0047	a0001c0001t0002g0285 a0001c0001t0047g0286 a0001c0001t0002g0285 a0001c0001t0047g0286	2	290	0.0069	182	c.107 others(199): Show c.1073+737_1073+738insAGGTGCAGCGCTCCGTGTGGGGCAGATG CTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGCG CTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGTG CAGCGCTCGTGGTCTGCAGGGCGTTGCGTGCATGGGCTCCCTTGTTTGTA GCCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC47_chr1_3773559_3801498	3797681	T T	TTAATTTT others(175): Show TTAATTTTTATATTAACCGTGTTAATATAATTTTTATATTAACCGTGTTA ATATAATTTTTATATTAACCGTGTTAATATAATTTTTATATTAACCGTGT TAATATAATTTTTATATTAACCGTGTTAATATAATTTTTATATTAACCGT GTTAATATAATTTTTATATTAACCGTGTTAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0179 a0001c0001t0009g0179	1	412	0.0024	182	c.-12 others(193): Show c.-1206_-1205insTATTAACACGGTTAATATAAAAATTATATTAACA CGGTTAATATAAAAATTATATTAACACGGTTAATATAAAAATTATATTAA CACGGTTAATATAAAAATTATATTAACACGGTTAATATAAAAATTATATT AACACGGTTAATATAAAAATTATATTAACACGGTTAATATAAAAATTA	LRRC47	ENSG00000130764.10	transcript	ENST00000378251.3	protein_coding		1184		chr1	TogoVar
MAP3K13_chr3_185358136_185494094	185453934	G G	GATATATA others(175): Show GATATATATGTGATACATATATATGAGATATATATGTGATACATATATAT GAGATATATATGTGATACATATATATGAGATATATATGTGATACATATAT ATGAGATATATATGTGATACATATATATGAGATATATATGATACATATAT ATGAGATATATATATGATACATATATATGAGAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18975.hp2 NA18983.hp2 others(2): Show NA18952.hp1 NA18975.hp2 NA18983.hp2 NA18992.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0081 others(2): Show a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0176	5	278	0.0180	182	c.127 others(201): Show c.1278+2548_1278+2549insTGATACATATATATGAGATATATATG TGATACATATATATGAGATATATATGTGATACATATATATGAGATATATA TGTGATACATATATATGAGATATATATGTGATACATATATATGAGATATA TATGATACATATATATGAGATATATATATGATACATATATATGAGATATA TATATG	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19478047	A A	AGGGGGGA others(175): Show AGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGG AGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGG GGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	163	0.0061	182	c.525 others(199): Show c.525+8434_525+8435insCCCCCTCCCCCCTCCCCCCTCCCCCCTC TCCCCCCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCC CCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTC TCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCC CCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAPK11_chr22_50258713_50275380	50265879	A A	ACCCAGCC others(175): Show ACCCAGCCCACCCCCACTGCCCTGGCCAGGCACTGCTTGCTGGGCCCCCA GCCCACCCCCACTGCCCTGGCCAGGCACTGCTTGCTGGGCCCCCAGCCCA CCCCCACTGCCCTGGCCAGGCACTGCTTGCTGGGCCCCCAGCCCACCCCC ACTGCCCTGGCCAGGCACTGCTTGCTGGGGTCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	428	0.0023	182	c.763 others(197): Show c.763-220_763-219insGGACCCCAGCAAGCAGTGCCTGGCCAGGGC AGTGGGGGTGGGCTGGGGGCCCAGCAAGCAGTGCCTGGCCAGGGCAGTGG GGGTGGGCTGGGGGCCCAGCAAGCAGTGCCTGGCCAGGGCAGTGGGGGTG GGCTGGGGGCCCAGCAAGCAGTGCCTGGCCAGGGCAGTGGGGGTGGGCTG GG	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding	9/11			chr22	TogoVar
MAPK12_chr22_50247901_50266683	50265147	C C	CTGGGAGC others(175): Show CTGGGAGCCAGAACCTGCCCTGTGTCACTCCTCCGCCCCGCTCCCAGCCT GTGCTGGACACCTGAACGCCCTTCCACACCTGACCAGTCTGGAGAGGAAC TGGGGCATTTCCTGCCTCTGGGGAAATGGAGCCCGCAGGCCCCTGGACCC ACCCCCAGCCACTGCCATGCTCACCCTTCCACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	444	0.0023	182	c.-38 others(193): Show c.-3820_-3639dupAGTGGAAGGGTGAGCATGGCAGTGGCTGGGGGTG GGTCCAGGGGCCTGCGGGCTCCATTTCCCCAGAGGCAGGAAATGCCCCAG TTCCTCTCCAGACTGGTCAGGTGTGGAAGGGCGTTCAGGTGTCCAGCACA GGCTGGGAGCGGGGCGGAGGAGTGACACAGGGCAGGTTCTGGCTCCCA	MAPK12	ENSG00000188130.14	transcript	ENST00000215659.13	protein_coding		3465		chr22	TogoVar
MARCHF1_chr4_163519718_164389019	163894908	T T	TATATATA others(175): Show TATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATATA TATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATA TATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATATG CATGTGATGCATATATATATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0039 a0001c0001t0017g0039	1	102	0.0098	182	c.-38 others(201): Show c.-38-40740_-38-40739insGCATCACATGCATATATATATATGCA TCACATGCATATATATATATGCATCACATGCATATATATATATGCATCAC ATGCATATATATATATATGCATCACATGCATATATATATATGCATCACAT GCATATATATATATGCATCACATGCATATATATATATGCATCACATGCAT ATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MBNL3_chrX_132364320_132494038	132396741	T T	TATATATT others(175): Show TATATATTCATATATATATTCATATATATTCATATATATTCATATATATA TTCATATATATTCATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATTCATATATATTCA TATATATATATTCATATATATATTCATATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0104 a0001c0001t0013g0104	1	191	0.0052	182	c.343 others(199): Show c.343-4408_343-4407insGTATATATGAATATATATATGAATATAT ATATATGAATATATATGAATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATATGAATATATATGAATATAT ATGAATATATATATGAATATATATGAATATATATGAATATATATATGAAT ATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MEGF6_chr1_3482951_3616508	3578761	T T	TCTGGGGA others(175): Show TCTGGGGAGACCAAGCACCTCCGCAGAACCCCTCCTCAGCCCGGCCCCCA GCGGAATGTGGAGTGGGCAGGAGTGTCACCCAGCTCAGAATGCTGGGGAG ACCAAGCACCTCCGCAGAACCCCTCCTCAGCCCGGCCCCCAGCGGAACGT GGAGTGGGCAGGAGTGTCACCCAGCTCAGAACG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0184 a0003c0003t0014g0185 a0003c0003t0014g0184 a0003c0003t0014g0185	2	292	0.0069	182	c.481 others(199): Show c.481+1063_481+1064insCGTTCTGAGCTGGGTGACACTCCTGCCC ACTCCACGTTCCGCTGGGGGCCGGGCTGAGGAGGGGTTCTGCGGAGGTGC TTGGTCTCCCCAGCATTCTGAGCTGGGTGACACTCCTGCCCACTCCACAT TCCGCTGGGGGCCGGGCTGAGGAGGGGTTCTGCGGAGGTGCTTGGTCTCC CCAG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3578782	T T	TGCAGAAC others(175): Show TGCAGAACCCCTCCTCAGCCCGGCCCCCAGCGGAACGTGGAGTGGGCAGG AGTGTCACCCAGCTCAGAACGCTGGGGAGACCCAGCACCTCCGCAGAACC CCTCCTCAGCCCGGCCCCCAGCGGAACGTGGAGTGGGCAGGAGTGTCACC CAGCTCAGAACGCTGGGGAGACCAAGCACCTCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0007 a0007	a0007c0106 a0007c0106	a0007c0106t0007 a0007c0106t0007	a0007c0106t0007g0010 a0007c0106t0007g0010	1	292	0.0034	182	c.481 others(199): Show c.481+1042_481+1043insGGAGGTGCTTGGTCTCCCCAGCGTTCTG AGCTGGGTGACACTCCTGCCCACTCCACGTTCCGCTGGGGGCCGGGCTGA GGAGGGGTTCTGCGGAGGTGCTGGGTCTCCCCAGCGTTCTGAGCTGGGTG ACACTCCTGCCCACTCCACGTTCCGCTGGGGGCCGGGCTGAGGAGGGGTT CTGC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3578782	T T	TGCAGAAC others(175): Show TGCAGAACCCCTCCTCAGCCTGGTCCCCAGCAGAACGTGGAGTGGGCAGG AGTGTCACCCAGCTCAGAACTCTGGGGAGACCCAGCACCTCTGCAGAACC CCTCCTCAGCCTGGTCCCCAGCAGAACGTGGAGTGGGCAGGAGTGTCACC CAGCTCAGAACTCTGGGGAGACCCAGCACCTCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp2 HG02630.hp2 HG02886.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0009 a0006c0006t0001 a0006c0006t0009	a0006c0006t0001g0059 a0006c0006t0009g0060 a0006c0006t0001g0059 a0006c0006t0009g0060	2	292	0.0069	182	c.481 others(199): Show c.481+1042_481+1043insGGAGGTGCTGGGTCTCCCCAGAGTTCTG AGCTGGGTGACACTCCTGCCCACTCCACGTTCTGCTGGGGACCAGGCTGA GGAGGGGTTCTGCAGAGGTGCTGGGTCTCCCCAGAGTTCTGAGCTGGGTG ACACTCCTGCCCACTCCACGTTCTGCTGGGGACCAGGCTGAGGAGGGGTT CTGC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3578782	T T	TGCAGAAC others(175): Show TGCAGAACCCCTCCTCAGCCTGGTCCCCAGCAGAACGTGGAGTGGGCAGG AGTGTCACCCAGCTCAGAACTCTGGGGAGACCCAGCACCTCTGCAGAACC CCTCCTCAGCCTGGTCCCCAGCGGAACGTGGAGTGGGCAGGAGTGTCACC CAGCTCAGAACGCTGGGGAGACCCAGCACCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03579.hp1 HG01884.hp1 HG03579.hp1	a0009 a0031 a0009 a0031	a0009c0009 a0031c0042 a0009c0009 a0031c0042	a0009c0009t0029 a0031c0042t0033 a0009c0009t0029 a0031c0042t0033	a0009c0009t0029g0270 a0031c0042t0033g0276 a0009c0009t0029g0270 a0031c0042t0033g0276	2	292	0.0069	182	c.481 others(199): Show c.481+1042_481+1043insGGAGGTGCTGGGTCTCCCCAGCGTTCTG AGCTGGGTGACACTCCTGCCCACTCCACGTTCCGCTGGGGACCAGGCTGA GGAGGGGTTCTGCAGAGGTGCTGGGTCTCCCCAGAGTTCTGAGCTGGGTG ACACTCCTGCCCACTCCACGTTCTGCTGGGGACCAGGCTGAGGAGGGGTT CTGC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3578805	T T	TCCCCAGC others(175): Show TCCCCAGCAGAACGTGGAGTGGGCAGGAGTGTCACCCAGCTCAGAACTCT GGGGAGACCCAGCACCTCTGCAGAACCCCTCCTCAGCCTGGTCCCCAGCG GAACGTGGAGTGGGCAGGAGTGTCACCCAGCTCAGAACGCTGGGGAGACC CAGCACCTCCGCAGAACCCCTCCTCAGCCCGGC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0001 a0008c0021t0001	a0008c0021t0001g0017 a0008c0021t0001g0017	1	292	0.0034	182	c.481 others(199): Show c.481+1019_481+1020insGCCGGGCTGAGGAGGGGTTCTGCGGAGG TGCTGGGTCTCCCCAGCGTTCTGAGCTGGGTGACACTCCTGCCCACTCCA CGTTCCGCTGGGGACCAGGCTGAGGAGGGGTTCTGCAGAGGTGCTGGGTC TCCCCAGAGTTCTGAGCTGGGTGACACTCCTGCCCACTCCACGTTCTGCT GGGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3578805	T T	TCCCCAGC others(175): Show TCCCCAGCGGAACGTGGAGTGGGCAGGAGTGTCACCCAGCTCAGAACGCT GGGGAGACCAAGCACCTCCGCAGAACCCCTCCTCAGCCCGGCCCCCAGCG GAATGTGGAGTGGGCAGGAGTGTCACCCAGCTCAGAACGCTGGGGAGACC CAGCACCTCCGCAGAACCCCTCCTCAGCCCGGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	292	0.0034	182	c.481 others(199): Show c.481+1019_481+1020insGCCGGGCTGAGGAGGGGTTCTGCGGAGG TGCTGGGTCTCCCCAGCGTTCTGAGCTGGGTGACACTCCTGCCCACTCCA CATTCCGCTGGGGGCCGGGCTGAGGAGGGGTTCTGCGGAGGTGCTTGGTC TCCCCAGCGTTCTGAGCTGGGTGACACTCCTGCCCACTCCACGTTCCGCT GGGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3578832	A A	AGTGTCAC others(175): Show AGTGTCACCCAGCTCAGAACTCTGGGGAGACCCAGCACCTCTGCAGAACC CCTCCTCAGCCTGGTCCCCAGCGGAACGTGGAGTGGGCAGGAGTGTCACC CAGCTCAGAACTCTGGGGAGACCCAGCACCTCTGCAGAACCCCTCCTCAG CCTGGTCCCCAGCAGAACGTGGAGTGGGCAGGG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0060 a0060	a0060c0083 a0060c0083	a0060c0083t0001 a0060c0083t0001	a0060c0083t0001g0032 a0060c0083t0001g0032	1	292	0.0034	182	c.481 others(197): Show c.481+992_481+993insCCCTGCCCACTCCACGTTCTGCTGGGGACC AGGCTGAGGAGGGGTTCTGCAGAGGTGCTGGGTCTCCCCAGAGTTCTGAG CTGGGTGACACTCCTGCCCACTCCACGTTCCGCTGGGGACCAGGCTGAGG AGGGGTTCTGCAGAGGTGCTGGGTCTCCCCAGAGTTCTGAGCTGGGTGAC AC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3578873	T T	TGCAGAAC others(175): Show TGCAGAACCCCTCCTCAGCCTGGTCCCCAGCGGAACGTGGAGTGGGCAGG AGTGTCACCCAGCTCAGAACGCTGGGGAGACCAAGCACCTCCGCAGAACC CCTCCTCAGCCCGGCCCCCAGCGGAATGTGGAGTGGGCAGGAGTGTCACC CAGCTCAGAATGCTGGGGAGACCCAGCACCTCC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0014 a0001c0007t0014	a0001c0007t0014g0168 a0001c0007t0014g0168	1	292	0.0034	182	c.481 others(197): Show c.481+951_481+952insGGAGGTGCTGGGTCTCCCCAGCATTCTGAG CTGGGTGACACTCCTGCCCACTCCACATTCCGCTGGGGGCCGGGCTGAGG AGGGGTTCTGCGGAGGTGCTTGGTCTCCCCAGCGTTCTGAGCTGGGTGAC ACTCCTGCCCACTCCACGTTCCGCTGGGGACCAGGCTGAGGAGGGGTTCT GC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3578905	C C	CAACGTGG others(175): Show CAACGTGGAGTGGGCAGGAGTGTCACCCAGCTCAGAACGCTGGGGAGACC CAGCACCTCCGCAGAACCCCTCCTCAGCCCGGCCCCCAGCGCAACGTGGA GTGGGCAGGAGTGTCACCCAGCTCAGAACGCTGGGGAGACCCAGCACCTC CGCAGAACCCCTCCTCAGCCCGGCCCCCAGCGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0037 a0037	a0037c0056 a0037c0056	a0037c0056t0062 a0037c0056t0062	a0037c0056t0062g0268 a0037c0056t0062g0268	1	292	0.0034	182	c.481 others(197): Show c.481+919_481+920insCCGCTGGGGGCCGGGCTGAGGAGGGGTTCT GCGGAGGTGCTGGGTCTCCCCAGCGTTCTGAGCTGGGTGACACTCCTGCC CACTCCACGTTGCGCTGGGGGCCGGGCTGAGGAGGGGTTCTGCGGAGGTG CTGGGTCTCCCCAGCGTTCTGAGCTGGGTGACACTCCTGCCCACTCCACG TT	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
METRNL_chr17_83074609_83100122	83090475	A A	ACACACAC others(175): Show ACACACACCCCCCCCGCCCCACACACACACACCCCCGCCCCACACACACA CCCCCCGCCCCACACACACACACCCCCGCCCCACACACACACCCCCCGCC CCACACACACACCCCCGCCCCACACACACACACCCCCCGCCCCACACACA CACACCCCCCGCCCCACACACACACCCCCGCCC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0010 a0001c0003t0003g0010	2	399	0.0050	182	c.557 others(199): Show c.557-2685_557-2684insCCCCCCCGCCCCACACACACACACCCCC GCCCCACACACACACCCCCCGCCCCACACACACACACCCCCGCCCCACAC ACACACCCCCCGCCCCACACACACACCCCCGCCCCACACACACACACCCC CCGCCCCACACACACACACCCCCCGCCCCACACACACACCCCCGCCCCAC ACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGA_chr15_41655405_41774940	41719200	A A	AACTATAT others(175): Show AACTATATACTATATAGTTTTTGGTAAAAATTCTCAGCACACTAGGAATA GCAAGGAATTTTCTCAACTGGATAAAATAATCTTTGAAAAATATTACAAT TGACATATTAATGATAAAAGACTTATTGTTCTCTCCCAAAGACTGGGAAT GAGGAAGAATGCCCATTTTTACCACTTCTGTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0026 a0026	a0026c0014 a0026c0014	a0026c0014t0001 a0026c0014t0001	a0026c0014t0001g0187 a0026c0014t0001g0187	1	292	0.0034	182	c.343 others(201): Show c.3430+5704_3430+5705insACTATATACTATATAGTTTTTGGTAA AAATTCTCAGCACACTAGGAATAGCAAGGAATTTTCTCAACTGGATAAAA TAATCTTTGAAAAATATTACAATTGACATATTAATGATAAAAGACTTATT GTTCTCTCCCAAAGACTGGGAATGAGGAAGAATGCCCATTTTTACCACTT CTGTTT	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding	9/23			chr15	TogoVar
MGLL_chr3_127684066_127827515	127777671	G G	GATTTAAA others(175): Show GATTTAAATTTAAATAAAGCAGGCAAGGTGCAATGGCTCACACCTGTAGT CCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGGCCAGGAGTT TGAGACCAGCCCAGGCAACATAGTGAGATCCTGTCTCTACAAAATAATTT TTTTTAATTAGCTGGGCCCCATGGTATATACCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01496.hp1 HG01516.hp1 others(22): Show HG00609.hp2 HG01496.hp1 HG01516.hp1 HG02148.hp1 HG02293.hp2 HG03017.hp2 HG03540.hp2 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG04228.hp2 NA18939.hp2 NA18955.hp2 NA18961.hp2 NA18965.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18994.hp1 NA19057.hp1 NA19060.hp1 NA19080.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0002t0005 a0001c0003t0002 a0001c0003t0006	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(22): Show a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0193 a0001c0001t0001g0238 a0001c0001t0002g0023 a0001c0001t0002g0107 a0001c0001t0002g0115 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0237 a0001c0001t0006g0112 a0001c0001t0007g0113 a0001c0002t0005g0106 a0001c0003t0002g0005 a0001c0003t0006g0004	25	314	0.0796	182	c.262 others(199): Show c.262+4117_262+4118insAGGTATATACCATGGGGCCCAGCTAATT AAAAAAAATTATTTTGTAGAGACAGGATCTCACTATGTTGCCTGGGCTGG TCTCAAACTCCTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTG CTGGGACTACAGGTGTGAGCCATTGCACCTTGCCTGCTTTATTTAAATTT AAAT	MGLL	ENSG00000074416.16	transcript	ENST00000265052.10	protein_coding	3/7			chr3	TogoVar
MLC1_chr22_50054391_50090426	50057572	G G	GGGATCAG others(175): Show GGGATCAGGTCTGGGTTGGGGTCAGGTCTGGGCTTGGGGGTCAGGTCTGG GTTTGGGGGTCAGGACTGGGTTTGGTGTCAGGTCTGGGTTGTGAGTCAGG TCTGGGTTGGGGGATCAGGTCTGGGTTGGGGTCAGGTCTGGTTGGGCGGG AGGTCTGGGTTGGGGGTCAGGTCTGGGTTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0020 a0001c0001t0015g0020	1	212	0.0047	182	c.40 others(193): Show c.4010_*4011insTCACAACCCAGACCTGACCCCCAACCCAGACCTC CCGCCCAACCAGACCTGACCCCAACCCAGACCTGATCCCCCAACCCAGAC CTGACTCACAACCCAGACCTGACACCAAACCCAGTCCTGACCCCCAAACC CAGACCTGACCCCCAAGCCCAGACCTGACCCCAACCCAGACCTGATCC	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding		1818		chr22	TogoVar
MRE11_chr11_94410570_94498844	94426414	G G	GAATCAAA others(175): Show GAATCAAATTAACAATTTGTTAATTTAAATCAAATTAACAAATTGTTAAT TTAAATCAAATTAACAAATTGTTAATTTAAATCAAATTAACAATTTGTTA ATTTAAATCAAATTAACAATTTGTTAATTTAAATCAAATTAACAATTTGT TAATTTAAATCAAATTAACAATTTGTTAATTTA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0039 a0006c0007t0039	a0006c0007t0039g0205 a0006c0007t0039g0205	1	394	0.0025	182	c.207 others(201): Show c.2070+3496_2070+3497insTAAATTAACAAATTGTTAATTTGATT TAAATTAACAAATTGTTAATTTGATTTAAATTAACAAATTGTTAATTTGA TTTAAATTAACAAATTGTTAATTTGATTTAAATTAACAATTTGTTAATTT GATTTAAATTAACAATTTGTTAATTTGATTTAAATTAACAAATTGTTAAT TTGATT	MRE11	ENSG00000020922.13	transcript	ENST00000323929.8	protein_coding	19/19			chr11	TogoVar
MSLN_chr16_755734_773862	767794	G G	GCGTGGAG others(175): Show GCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGA GGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGC GTGGAGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGG GGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0328 a0002c0002t0002g0328	1	388	0.0026	182	c.159 others(199): Show c.1596+324_1596+325insCGTGGAGGAGGGGCGCGTGGAGGAGGAG GGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGG GGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCGCGTGGAGGAGGAGGGGC GCATGGGGGGGTGTGGAGGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGT CGCA	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17			chr16	TogoVar
MSLN_chr16_755734_773862	767828	G G	GGGGCGTG others(175): Show GGGGCGTGGAGGGGGGAGCGTGGAGGAGGAGGGGCGCATGGGGGGGGTGT GGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGG CGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGG GGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	388	0.0026	182	c.159 others(199): Show c.1596+361_1596+362insCGTGGAGGGGGGAGCGTGGAGGAGGAGG GGCGCATGGGGGGGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGA GGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCG CATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGG AGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTERF3_chr8_96234402_96266610	96250681	A A	AAGAAAAG others(175): Show AAGAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	294	0.0034	182	c.677 others(197): Show c.677+224_677+225insCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTT CT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(175): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGT GGTGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGG TAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTG CTGGTGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18957.hp1 HG03710.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0196 a0001c0001t0002g0111 a0001c0001t0002g0196	2	384	0.0052	182	c.160 others(199): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCA CCACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYNN_chr3_169768396_169794716	169770930	A A	AATAAAAA others(175): Show AATAAAAATTTATATTTAGATATCATATATAAAAATTTATATTTATATAT CATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTT ATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAAT ATATAAAAATTTATATTTATATATCATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	350	0.0029	182	c.-25 others(193): Show c.-2564_-2563insATAAAAATTTATATTTAGATATCATATATAAAAA TTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATA AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATAT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2465		chr3	TogoVar
NAGK_chr2_71063648_71084808	71081025	T T	TTTATTTT others(175): Show TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATATTTT ATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTTATTTC ATTTCATTTCATTTTATTTGATTTTATTTTATATTTGATTTGATTTGATT TGATTTGATTTGATTTGATTTGATTTGATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03486.hp1 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0009 a0001c0004t0004g0009	2	442	0.0045	182	c.25 others(193): Show c.2517_*2518insTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATATTTTATTTTATTTTATTTTATTTTATTTTATTTCATTTC ATTTCATTTTATTTCATTTCATTTCATTTTATTTGATTTTATTTTATATT TGATTTGATTTGATTTGATTTGATTTGATTTGATTTGATTTGATTTTA	NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding		1218		chr2	TogoVar
NCOR2_chr12_124319415_124572612	124541682	A A	AGAGATGG others(175): Show AGAGATGGAGGGGGTGGGGAGTGGAGAGCTGGAGGGGGATGGGGAGTGGA ACTGGAGGGAGATGGGGAGTGGAGATGGAGGGGGATGGGGGTGGATATGG AGGGGGATGGGGGTGGATATGGAGGGGGATGGGGAGTGGAGATGGAGGGG GATGGGGAGTGGAGATGGAGGGGGTGGGGAGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0121 a0002c0121	a0002c0121t0028 a0002c0121t0028	a0002c0121t0028g0117 a0002c0121t0028g0117	1	234	0.0043	182	c.-16 others(201): Show c.-164-6253_-164-6072dupCACTCCCCACCCCCTCCATCTCCACT CCCCATCCCCCTCCATCTCCACTCCCCATCCCCCTCCATATCCACCCCCA TCCCCCTCCATATCCACCCCCATCCCCCTCCATCTCCACTCCCCATCTCC CTCCAGTTCCACTCCCCATCCCCCTCCAGCTCTCCACTCCCCACCCCCTC CATCTC	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	1/48			chr12	TogoVar
NEXN_chr1_77883624_77948895	77887912	T T	TTTCTTCT others(175): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	268	0.0037	182	c.-90 others(191): Show c.-900_-899insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		711		chr1	TogoVar
NGEF_chr2_232873701_233018256	232995367	A A	ATACTGTG others(175): Show ATACTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATGTATG TATACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAG TATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTA TGTATACCGTATATATACACAGTATGTATACCG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0230 a0001c0001t0008g0230	1	362	0.0028	182	c.-75 others(201): Show c.-75+17700_-75+17701insCGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACATACAGTATACATACATA CAGTATACATACATACAGTATACATGCTGTACACAGTATACATGCTGTAC ACAGTA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995572	A A	ATATATAT others(175): Show ATATATATACAGTATGTATACTGTATATATATACAGTATGTATACTGTAT ATATATACAGTATGTATACTGTATATATATACAGTATGTATACTGTATAT ATATACAGTATGTATACAGTATGTATACTATATATATACAGTATGTATAC AGTATGTATACTATATATATACAGTATGTATAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0092 a0001c0001t0007g0092	1	362	0.0028	182	c.-75 others(201): Show c.-75+17495_-75+17496insGTATACATACTGTATATATATAGTAT ACATACTGTATACATACTGTATATATATAGTATACATACTGTATACATAC TGTATATATATACAGTATACATACTGTATATATATACAGTATACATACTG TATATATATACAGTATACATACTGTATATATATACAGTATACATACTGTA TATATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(175): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGCAGAAAGA AAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAA GACAGAAAGAAAGACAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0058 a0002c0003t0001g0058	1	440	0.0023	182	c.319 others(197): Show c.319+282_319+283insCTTTCTTTCTTTCTTTCTGTCTTTCTTTCT GTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGT CTTTCTTTCTGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTTC TT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NPSR1_chr7_34653218_34854978	34792665	T T	TTATATAT others(175): Show TTATATATATGTATATATATATATTTATATATATATGTATATATATATAT TTATATATATATGTATATATATATATTTATATATATATGTATATATATAT ATTTATATATATATGTATATATATATATTTATATATATATGTATATATAT ATATTTATATATATATGTATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0064 a0007c0012t0001g0064	1	260	0.0039	182	c.384 others(201): Show c.384+14123_384+14124insTTATATATATATGTATATATATATAT TTATATATATATGTATATATATATATTTATATATATATGTATATATATAT ATTTATATATATATGTATATATATATATTTATATATATATGTATATATAT ATATTTATATATATATGTATATATATATATTTATATATATATGTATATAT ATATAT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar

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