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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
LINGO1_chr15_77608027_77637912	77610944	AGTCTCTC others(47): Show AGTCTCTCCTGGGAGGAGGGGCAGGGCTGGGACGATGGAGGGGGCCCGTG CGCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 NA18906.hp1 HG03139.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0173 a0001c0003t0006g0174 a0001c0003t0006g0173 a0001c0003t0006g0174	2	386	0.0052	-54	c.30 others(65): Show c.3046_*3099delCGGCGCACGGGCCCCCTCCATCGTCCCAGCCCTG CCCCTCCTCCCAGGAGAGAC		LINGO1	ENSG00000169783.13	transcript	ENST00000355300.7	protein_coding					2082		chr15	TogoVar
LOC101059915_chrX_71662546_71676527	71667567	GCCACGCG others(47): Show GCCACGCGCTGTCAGTGACATCTCGTGAGCAGACTGTGGTGAGGGTGGCG GTGTC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0004 a0009c0021t0004	a0009c0021t0004g0013 a0009c0021t0004g0013	1	340	0.0029	-54	c.-23 others(63): Show c.-233_-180delCGCGCTGTCAGTGACATCTCGTGAGCAGACTGTGGT GAGGGTGGCGGTGTCCCA		LOC101059915	ENSG00000283599.3	transcript	ENST00000636096.3	protein_coding	1/6				180	INFO_REALIGN_3_PRIME	chrX	TogoVar
LOC112694756_chr16_30048151_30075414	30048239	ATAAATAC others(47): Show ATAAATACACATGAAAATTAGAAAACATGCATGTCTAATTTTTCTTTTTT TTTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	332	0.0030	-54	c.-50 others(65): Show c.-5008_-4955delTAAATACACATGAAAATTAGAAAACATGCATGTC TAATTTTTCTTTTTTTTTTG		LOC112694756	ENSG00000285043.3	transcript	ENST00000338110.11	protein_coding					4911		chr16	TogoVar
LOC127933115_chrX_23778278_23788367	23780106	TATATACG others(47): Show TATATACGTATATATACACACATATATATGTGTATATATATGTATATATA TATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02818.hp1 HG01891.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	334	0.0060	-54	c.-31 others(65): Show c.-3171_-3118delATATACGTATATATACACACATATATATGTGTAT ATATATGTATATATATATAC		LOC127933115	ENSG00000288706.1	transcript	ENST00000683890.1	protein_coding					3171		chrX	TogoVar
LPCAT1_chr5_1456427_1528960	1513648	GTTTCCTC others(47): Show GTTTCCTCCATTTCCACAGGCTCTCACCCGTGGGGCGGGACACCCTGCGA TTACA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp1 HG03486.hp1 others(1): Show HG02717.hp2 HG02886.hp1 HG03486.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0007 a0001c0003t0009 a0001c0001t0004 a0001c0001t0007 a0001c0003t0009	a0001c0001t0004g0105 a0001c0001t0007g0270 a0001c0003t0009g0238 others(1): Show a0001c0001t0004g0105 a0001c0001t0007g0270 a0001c0003t0009g0238 a0001c0003t0009g0239	4	386	0.0104	-54	c.135 others(73): Show c.135+10008_135+10061delTGTAATCGCAGGGTGTCCCGCCCCAC GGGTGAGAGCCTGTGGAAATGGAGGAAA		LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	1/13						chr5	TogoVar
LPP_chr3_188149157_188895671	188784466	CATATATA others(47): Show CATATATATATATTCCATCATATATATATTCCATCATATATATATATTCC ATCAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0037 a0002c0015t0037	a0002c0015t0037g0051 a0002c0015t0037g0051	1	76	0.0132	-54	c.141 others(75): Show c.1410+24195_1410+24248delATTCCATCATATATATATTCCATC ATATATATATATTCCATCATATATATATAT		LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRBA_chr4_150259435_151020284	150639753	ATATATAT others(47): Show ATATATATATATATATATATATATATATATGTGTGTGTGTATATATATAT ATATG	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18950.hp1 NA21309.hp2 NA18939.hp2 NA18950.hp1 NA21309.hp2	a0001 a0024 a0001 a0024	a0001c0001 a0001c0005 a0024c0030 a0001c0001 a0001c0005 a0024c0030	a0001c0001t0004 a0001c0005t0001 a0024c0030t0001 a0001c0001t0004 a0001c0005t0001 a0024c0030t0001	a0001c0001t0004g0025 a0001c0005t0001g0158 a0024c0030t0001g0017 a0001c0001t0004g0025 a0001c0005t0001g0158 a0024c0030t0001g0017	3	180	0.0167	-54	c.592 others(75): Show c.5922-40676_5922-40623delCATATATATATATATACACACACA CATATATATATATATATATATATATATATA		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56						chr4	TogoVar
LRFN5_chr14_41601876_41909549	41764786	GTGCAGAA others(47): Show GTGCAGAATACATATATATGATTATATATGCAGAATACATATATATGATT ATATA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02896.hp2 HG02280.hp1 HG02572.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0006 a0001c0001t0013	a0001c0001t0006g0276 a0001c0001t0006g0278 a0001c0001t0013g0279 a0001c0001t0006g0276 a0001c0001t0006g0278 a0001c0001t0013g0279	3	280	0.0107	-54	c.-19 others(73): Show c.-196-2022_-196-1969delGATTATATATGCAGAATACATATATA TGATTATATATGCAGAATACATATATAT		LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
LRP1B_chr2_140226423_142136016	141381938	TGGAAATT others(47): Show TGGAAATTTGGTGGAGCCCAGGATCTAGGAAGGTCATTTTAAGTGTGTAG ACAGA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02922.hp2 HG01261.hp2 HG02922.hp2	a0001 a0001	a0001c0008 a0001c0026 a0001c0008 a0001c0026	a0001c0008t0001 a0001c0026t0001 a0001c0008t0001 a0001c0026t0001	a0001c0008t0001g0008 a0001c0026t0001g0025 a0001c0008t0001g0008 a0001c0026t0001g0025	2	28	0.0714	-54	c.343 others(73): Show c.343+98404_343+98457delTCTGTCTACACACTTAAAATGACCTT CCTAGATCCTGGGCTCCACCAAATTTCC		LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	3/90						chr2	TogoVar
LRRC27_chr10_132327193_132386508	132352412	CGAGGCCT others(47): Show CGAGGCCTCCGTGTGGGGCAGGCGCAGGTGCAGCGCTCCGTGTGGGGCAG GCGCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01070.hp2 others(8): Show HG00140.hp1 HG00140.hp2 HG01070.hp2 HG01099.hp2 HG01346.hp1 HG02559.hp1 HG02572.hp1 HG04228.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0011 a0002c0004t0016 others(1): Show a0002c0004t0010 a0002c0004t0011 a0002c0004t0016 a0002c0004t0022	a0002c0004t0010g0011 a0002c0004t0010g0013 a0002c0004t0010g0014 others(8): Show a0002c0004t0010g0011 a0002c0004t0010g0013 a0002c0004t0010g0014 a0002c0004t0010g0015 a0002c0004t0010g0016 a0002c0004t0010g0017 a0002c0004t0011g0008 a0002c0004t0011g0009 a0002c0004t0011g0010 a0002c0004t0016g0018 a0002c0004t0022g0012	11	290	0.0379	-54	c.107 others(71): Show c.1073+684_1073+737delAGGTGCAGCGCTCCGTGTGGGGCAGGCG CTGAGGCCTCCGTGTGGGGCAGGCGC		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132356351	GCCAAGAT others(47): Show GCCAAGATTGCCAGCTCTTAAGCTATGGGACATGGGATATCCTGAGTACC ATCCC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG01123.hp2 others(5): Show HG01074.hp1 HG01074.hp2 HG01123.hp2 HG01928.hp2 HG01943.hp2 HG01993.hp2 HG02293.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0118 others(5): Show a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176	8	290	0.0276	-54	c.117 others(71): Show c.1170+515_1170+568delATCCCCCAAGATTGCCAGCTCTTAAGCT ATGGGACATGGGATATCCTGAGTACC		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132356401	ATCCCCCA others(47): Show ATCCCCCAAGATTGCCAGCTCTTAAGCTATGGGACATGGGATATCCTGAG TACCG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00735.hp2 others(70): Show HG00323.hp2 HG00597.hp1 HG00735.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01891.hp1 HG01943.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02970.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp1 HG03704.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18947.hp2 NA18951.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18971.hp2 NA18980.hp2 NA18983.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA19004.hp2 NA19009.hp2 NA19030.hp2 NA19054.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19085.hp2 NA20805.hp2 NA20905.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011 a0001c0013 a0003c0008 a0004c0015 a0006c0012 a0008c0014	a0001c0001t0001 a0001c0001t0005 a0001c0001t0023 others(20): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0050 a0001c0001t0053 a0001c0002t0003 a0001c0003t0006 a0001c0003t0007 a0001c0007t0007 a0001c0011t0001 a0001c0013t0007 a0003c0008t0007 a0004c0015t0015 a0006c0012t0006 a0008c0014t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(69): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0005g0051 a0001c0001t0005g0053 a0001c0001t0005g0056 a0001c0001t0023g0059 a0001c0001t0025g0055 a0001c0001t0028g0040 a0001c0001t0029g0052 a0001c0001t0034g0033 a0001c0001t0036g0048 a0001c0001t0038g0057 a0001c0001t0039g0068 a0001c0001t0043g0041 a0001c0001t0050g0075 a0001c0001t0053g0074 a0001c0002t0003g0256 a0001c0003t0006g0080 a0001c0003t0006g0095 a0001c0003t0006g0096 a0001c0003t0006g0097 a0001c0003t0006g0098 a0001c0003t0007g0079 a0001c0003t0007g0085 a0001c0003t0007g0086 a0001c0003t0007g0092 a0001c0003t0007g0093 a0001c0003t0007g0094 a0001c0007t0007g0001 a0001c0011t0001g0102 a0001c0011t0001g0103 a0001c0013t0007g0081 a0003c0008t0007g0083 a0003c0008t0007g0084 a0004c0015t0015g0050 a0006c0012t0006g0099 a0008c0014t0001g0037	73	290	0.2517	-54	c.117 others(71): Show c.1170+713_1170+766delTGGGATATCCTGAGTACCGTCCCCCAAG ATTGCCAGCTCTTAAGCTATGGGACA		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC7_chr1_69562922_70149364	69717824	AAGAAAGA others(47): Show AAGAAAGAAAGAAAGAAAAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAA GAAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0052 a0001c0017t0052	a0001c0017t0052g0017 a0001c0017t0052g0017	1	108	0.0093	-54	c.100 others(73): Show c.100+39350_100+39403delAAGAAAGAAAGAAAAAAGAAAGAAAG GAAAGAAAGAAAGAAAGAAAGAAAGAGA		LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr1	TogoVar
LRRC9_chr14_59915144_60071817	59975097	ATATACAT others(47): Show ATATACATATATATATGTATATATATATATGTATATATATATACATATAT ATATG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG00639.hp2 others(15): Show HG00423.hp1 HG00621.hp1 HG00639.hp2 HG01433.hp1 HG01884.hp1 HG01928.hp1 HG02280.hp2 HG02615.hp2 HG02895.hp2 HG02922.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18955.hp1 NA18955.hp2 NA18983.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0027	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(15): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0217 a0001c0001t0003g0245 a0001c0001t0008g0011 a0001c0001t0010g0028 a0001c0001t0011g0050 a0001c0001t0011g0078 a0001c0001t0011g0079 a0001c0001t0016g0051 a0001c0001t0027g0246	18	322	0.0559	-54	c.163 others(71): Show c.1639+394_1639+447delCATATATATATGTATATATATATATGTA TATATATATACATATATATATGTATA		LRRC9	ENSG00000131951.12	transcript	ENST00000570145.2	protein_coding	13/32					INFO_REALIGN_3_PRIME	chr14	TogoVar
LSG1_chr3_194635791_194677191	194645535	GACACACA others(47): Show GACACACACACACACACACACACACACACACACACAGACAGACACACACA CACAC	G G	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18995.hp1 NA19012.hp2 NA18969.hp2 NA18995.hp1 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0320 a0002c0002t0009g0324 a0002c0002t0009g0325 a0002c0002t0009g0320 a0002c0002t0009g0324 a0002c0002t0009g0325	3	408	0.0074	-54	c.162 others(71): Show c.1623+575_1623+628delGTGTGTGTGTGTGTCTGTCTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGT		LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13						chr3	TogoVar
LTBP2_chr14_74493183_74617237	74564189	ATATATAT others(47): Show ATATATATATTTATATATATTTATATATATATTTATATATATATTTATAT ATATT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0012 a0012	a0012c0057 a0012c0057	a0012c0057t0003 a0012c0057t0003	a0012c0057t0003g0272 a0012c0057t0003g0272	1	282	0.0036	-54	c.831 others(71): Show c.831-8550_831-8497delAATATATATAAATATATATATAAATATA TATATAAATATATATAAATATATATA		LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35						chr14	TogoVar
LUZP2_chr11_24492053_25087638	24566901	TGTTATAT others(47): Show TGTTATATATATATATATGTATATATGTATATATATATACATAAATATAT ATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00621.hp1 others(111): Show HG00423.hp1 HG00423.hp2 HG00621.hp1 HG00621.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18981.hp1 NA18981.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp1 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0007 a0003c0004 a0004c0005 a0005c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(38): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0003t0004 a0001c0003t0006 a0001c0003t0012 a0001c0003t0015 a0001c0003t0019 a0001c0003t0035 a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0007t0028 a0003c0004t0018 a0003c0004t0036 a0004c0005t0002 a0005c0006t0029	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0016 others(111): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0040 a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0073 a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0002g0113 a0001c0001t0003g0024 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0036 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0003g0095 a0001c0001t0003g0114 a0001c0001t0004g0060 a0001c0001t0004g0062 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0004g0085 a0001c0001t0004g0105 a0001c0001t0005g0006 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0049 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0006g0035 a0001c0001t0006g0115 a0001c0001t0007g0007 a0001c0001t0007g0012 a0001c0001t0007g0015 a0001c0001t0007g0103 a0001c0001t0010g0037 a0001c0001t0010g0038 a0001c0001t0010g0080 a0001c0001t0011g0054 a0001c0001t0011g0082 a0001c0001t0011g0107 a0001c0001t0013g0039 a0001c0001t0013g0051 a0001c0001t0013g0086 a0001c0001t0014g0002 a0001c0001t0014g0044 a0001c0001t0016g0033 a0001c0001t0016g0088 a0001c0001t0017g0018 a0001c0001t0017g0071 a0001c0001t0020g0097 a0001c0001t0021g0093 a0001c0001t0030g0108 a0001c0001t0031g0109 a0001c0001t0033g0112 a0001c0001t0034g0053 a0001c0001t0037g0110 a0001c0001t0038g0090 a0001c0001t0039g0034 a0001c0003t0004g0004 a0001c0003t0004g0050 a0001c0003t0004g0055 a0001c0003t0006g0077 a0001c0003t0012g0046 a0001c0003t0012g0052 a0001c0003t0012g0111 a0001c0003t0015g0069 a0001c0003t0015g0091 a0001c0003t0019g0096 a0001c0003t0035g0094 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0023 a0002c0002t0001g0026 a0002c0002t0001g0045 a0002c0002t0001g0057 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0083 a0002c0002t0001g0092 a0002c0002t0008g0021 a0002c0002t0008g0104 a0002c0002t0008g0116 a0002c0002t0009g0005 a0002c0002t0009g0043 a0002c0002t0009g0079 a0002c0002t0022g0017 a0002c0002t0023g0022 a0002c0002t0024g0089 a0002c0002t0025g0072 a0002c0002t0026g0010 a0002c0002t0027g0100 a0002c0007t0028g0068 a0003c0004t0018g0098 a0003c0004t0036g0070 a0004c0005t0002g0087 a0005c0006t0029g0058	114	116	0.9828	-54	c.62+ others(71): Show c.62+69597_62+69650delGTTATATATATATATATGTATATATGTA TATATATATACATAAATATATATATA		LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11						chr11	TogoVar
LUZP2_chr11_24492053_25087638	24741910	TAATATAT others(47): Show TAATATATACATTTATATATTATATATAAATATATACATTTATATATTAT ATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0033 a0001c0001t0016g0033	1	116	0.0086	-54	c.333 others(71): Show c.333+3639_333+3692delATATACATTTATATATTATATATAAATA TATACATTTATATATTATATATAAAT		LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
MAB21L4_chr2_240881048_240901156	240892569	GCCGTTTC others(47): Show GCCGTTTCTGGGCTGCCCAGGCCAGCAGGCTCACAGTGACGGAGCTCAGC CACCC	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18971.hp1 HG02132.hp2 NA18971.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0033 a0001c0004t0003g0033	2	446	0.0045	-54	c.515 others(69): Show c.515-860_515-807delGGGTGGCTGAGCTCCGTCACTGTGAGCCTG CTGGCCTGGGCAGCCCAGAAACGG		MAB21L4	ENSG00000172478.18	transcript	ENST00000388934.5	protein_coding	1/4						chr2	TogoVar
MAFA_chr8_143423064_143435732	143425124	GCAGGAGA others(47): Show GCAGGAGACCAGTGACCATCCAGGTGGGCTGTCGGGCCCAGGCGAGCGTG TGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	446	0.0022	-54	c.41 others(65): Show c.4167_*4220delACACACACGCTCGCCTGGGCCCGACAGCCCACCT GGATGGTCACTGGTCTCCTG		MAFA	ENSG00000182759.4	transcript	ENST00000333480.3	protein_coding					2939		chr8	TogoVar
MAGEB10_chrX_27802990_27828014	27809476	CCCGCCGG others(47): Show CCCGCCGGCCCCCCCCCCGCCCCGCCCGCCCCCCCCCCCGCCCGCCCCCC CCCCG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0048	1	250	0.0040	-54	c.-19 others(73): Show c.-199+1453_-199+1506delCCCCCGCCCCGCCCGCCCCCCCCCCC GCCCGCCCCCCCCCCGCCGCCGGCCCCC		MAGEB10	ENSG00000177689.10	transcript	ENST00000356790.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGI1_chr3_65348526_66043918	65538953	TAACTACC others(47): Show TAACTACCATCAAACAGACACATATACCAACTACCATCAACCAGAAACAT GTACC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01496.hp1 HG02040.hp1 others(4): Show HG01071.hp2 HG01496.hp1 HG02040.hp1 HG03209.hp2 HG03492.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0042 others(4): Show a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0091	7	104	0.0673	-54	c.431 others(73): Show c.431-45376_431-45323delGGTACATGTTTCTGGTTGATGGTAGT TGGTATATGTGTCTGTTTGATGGTAGTT		MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	2/22						chr3	TogoVar
MAGI2_chr7_78012055_79458667	79324619	AATATATA others(47): Show AATATATATATTATATATATATAAAATATATATATATTATATATATATAA AATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp1 HG03041.hp1 others(2): Show HG02451.hp1 HG02965.hp1 HG03041.hp1 HG03209.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 others(2): Show a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0013	a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 others(2): Show a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0013t0001	a0001c0002t0001g0009 a0001c0004t0001g0018 a0001c0006t0001g0038 others(2): Show a0001c0002t0001g0009 a0001c0004t0001g0018 a0001c0006t0001g0038 a0001c0007t0001g0040 a0001c0013t0001g0039	5	40	0.1250	-54	c.301 others(75): Show c.301+128347_301+128400delATATTTTATATATATATAATATAT ATATATTTTATATATATATAATATATATAT		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	79324643	AATATATA others(47): Show AATATATATATATTATATATATATAAAATATATATATATTATATATATAT AAAAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0037 a0002c0008t0001g0037	1	40	0.0250	-54	c.301 others(75): Show c.301+128323_301+128376delATTTTATATATATATAATATATAT ATATTTTATATATATATAATATATATATAT		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21						chr7	TogoVar
MALRD1_chr10_19043801_19739478	19171994	TATATATC others(47): Show TATATATCACATATATGTGATATATATCATATATCACATATATGTGATAT ATATC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01256.hp2 HG02055.hp1 HG01192.hp2 HG01256.hp2 HG02055.hp1	a0001 a0039 a0041 a0001 a0039 a0041	a0001c0052 a0039c0109 a0041c0053 a0001c0052 a0039c0109 a0041c0053	a0001c0052t0001 a0039c0109t0002 a0041c0053t0001 a0001c0052t0001 a0039c0109t0002 a0041c0053t0001	a0001c0052t0001g0116 a0039c0109t0002g0077 a0041c0053t0001g0117 a0001c0052t0001g0116 a0039c0109t0002g0077 a0041c0053t0001g0117	3	152	0.0197	-54	c.183 others(73): Show c.1831-3173_1831-3120delATGTGATATATATCATATATCACATA TATGTGATATATATCATATATCACATAT		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	13/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MAP3K12_chr12_53474669_53504458	53498908	CTGTGTGT others(47): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(36): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00733.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01257.hp2 HG01496.hp2 HG02055.hp2 HG02074.hp1 HG02165.hp2 HG02622.hp2 HG02683.hp1 HG02723.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03130.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03831.hp2 HG04115.hp1 NA18945.hp1 NA18948.hp2 NA18954.hp2 NA18959.hp1 NA18964.hp2 NA18987.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19068.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021	a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0030 others(33): Show a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0002g0004 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0054 a0001c0001t0002g0287 a0001c0001t0003g0042 a0001c0001t0003g0294 a0001c0001t0005g0005 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0037 a0001c0001t0005g0043 a0001c0001t0012g0027 a0001c0001t0018g0297 a0001c0001t0020g0041 a0001c0001t0021g0031	39	328	0.1189	-54	c.-38 others(69): Show c.-38+465_-38+518delCACACACACACACACACACACACACACACA CACACACACACACACACACACACA		MAP3K12	ENSG00000139625.13	transcript	ENST00000547488.6	protein_coding	1/13						chr12	TogoVar
MAP3K13_chr3_185358136_185494094	185453982	GATATATA others(47): Show GATATATATATGATACATATATATGAGATATATATATGATACATATATAT GAGAT	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03540.hp1 NA18991.hp2 HG02132.hp2 HG03540.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0005 a0001c0003t0009 a0001c0001t0002 a0001c0001t0005 a0001c0003t0009	a0001c0001t0002g0025 a0001c0001t0005g0027 a0001c0003t0009g0261 a0001c0001t0002g0025 a0001c0001t0005g0027 a0001c0003t0009g0261	3	278	0.0108	-54	c.127 others(73): Show c.1278+2596_1278+2649delATGATACATATATATGAGATATATAT ATGATACATATATATGAGATATATATAT		MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185454584	TGATATAT others(47): Show TGATATATAGATATATATGAGATATATATGATATATATATGAGATATATA TATGA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0059 a0001c0016t0059	a0001c0016t0059g0052 a0001c0016t0059g0052	1	278	0.0036	-54	c.127 others(73): Show c.1278+3198_1278+3251delGATATATATGAGATATATATGATATA TATATGAGATATATATATGAGATATATA		MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
MAPKAP1_chr9_125432394_125712208	125693676	TATATATA others(47): Show TATATATACACGTATATATACACGTATATATACACATATATACACGTATA TACAC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0143 a0001c0001t0001g0144	2	300	0.0067	-54	c.-70 others(73): Show c.-70+13241_-70+13294delGTGTATATACGTGTATATATGTGTAT ATATACGTGTATATATACGTGTATATAT		MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	1/11						chr9	TogoVar
MARCHF6_chr5_10348695_10445388	10435623	CTATATAA others(47): Show CTATATAACTATATAACTATATATATATATATATATATATATATATATAT ATATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0153 a0001c0001t0153	a0001c0001t0153g0227 a0001c0001t0153g0227	1	284	0.0035	-54	c.19 others(65): Show c.1946_*1999delACTATATAACTATATATATATATATATATATATA TATATATATATATATATATA		MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26				1946	INFO_REALIGN_3_PRIME	chr5	TogoVar
MBTD1_chr17_51172425_51265049	51197041	GATATATA others(47): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TATAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(105): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01993.hp2 HG02004.hp1 HG02083.hp1 HG02132.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02572.hp2 HG02615.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03704.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp2 NA18963.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA18975.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19002.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19060.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA19086.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 others(56): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0046 a0001c0001t0048 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0066 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0001c0001t0074 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0082 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0090 a0001c0001t0091 a0001c0001t0095 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0104 a0001c0001t0106 a0001c0001t0107 a0001c0001t0112 a0001c0001t0115 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0134 a0001c0001t0136 a0001c0001t0137 a0001c0001t0146 a0001c0001t0154	a0001c0001t0006g0002 a0001c0001t0006g0070 a0001c0001t0006g0072 others(103): Show a0001c0001t0006g0002 a0001c0001t0006g0070 a0001c0001t0006g0072 a0001c0001t0006g0073 a0001c0001t0008g0007 a0001c0001t0008g0069 a0001c0001t0008g0074 a0001c0001t0008g0083 a0001c0001t0008g0084 a0001c0001t0009g0271 a0001c0001t0009g0289 a0001c0001t0009g0296 a0001c0001t0009g0310 a0001c0001t0009g0335 a0001c0001t0017g0269 a0001c0001t0017g0270 a0001c0001t0018g0055 a0001c0001t0018g0056 a0001c0001t0018g0060 a0001c0001t0018g0061 a0001c0001t0019g0075 a0001c0001t0019g0077 a0001c0001t0019g0085 a0001c0001t0020g0050 a0001c0001t0020g0263 a0001c0001t0021g0276 a0001c0001t0021g0306 a0001c0001t0021g0308 a0001c0001t0021g0324 a0001c0001t0022g0078 a0001c0001t0022g0079 a0001c0001t0022g0080 a0001c0001t0022g0087 a0001c0001t0028g0003 a0001c0001t0028g0004 a0001c0001t0028g0005 a0001c0001t0029g0059 a0001c0001t0029g0066 a0001c0001t0029g0071 a0001c0001t0030g0001 a0001c0001t0030g0065 a0001c0001t0031g0006 a0001c0001t0031g0062 a0001c0001t0031g0063 a0001c0001t0032g0265 a0001c0001t0032g0274 a0001c0001t0032g0318 a0001c0001t0033g0261 a0001c0001t0033g0282 a0001c0001t0033g0284 a0001c0001t0034g0286 a0001c0001t0034g0295 a0001c0001t0034g0305 a0001c0001t0035g0288 a0001c0001t0035g0322 a0001c0001t0035g0323 a0001c0001t0037g0290 a0001c0001t0037g0292 a0001c0001t0037g0301 a0001c0001t0046g0298 a0001c0001t0046g0319 a0001c0001t0048g0008 a0001c0001t0048g0082 a0001c0001t0051g0297 a0001c0001t0051g0321 a0001c0001t0052g0268 a0001c0001t0052g0328 a0001c0001t0053g0275 a0001c0001t0053g0317 a0001c0001t0054g0280 a0001c0001t0054g0304 a0001c0001t0055g0199 a0001c0001t0066g0067 a0001c0001t0068g0326 a0001c0001t0069g0277 a0001c0001t0070g0315 a0001c0001t0072g0267 a0001c0001t0074g0309 a0001c0001t0078g0086 a0001c0001t0079g0314 a0001c0001t0080g0283 a0001c0001t0082g0064 a0001c0001t0084g0312 a0001c0001t0085g0300 a0001c0001t0086g0294 a0001c0001t0090g0068 a0001c0001t0091g0262 a0001c0001t0095g0279 a0001c0001t0098g0316 a0001c0001t0099g0313 a0001c0001t0100g0291 a0001c0001t0104g0302 a0001c0001t0106g0278 a0001c0001t0107g0303 a0001c0001t0112g0287 a0001c0001t0115g0081 a0001c0001t0118g0320 a0001c0001t0119g0272 a0001c0001t0120g0293 a0001c0001t0121g0195 a0001c0001t0122g0311 a0001c0001t0134g0285 a0001c0001t0136g0281 a0001c0001t0137g0307 a0001c0001t0146g0273 a0001c0001t0154g0325	108	340	0.3177	-54	c.122 others(73): Show c.1225-1734_1225-1681delATATATATATATATATATATATATAT ATATATATATATATATATATATATATAT		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	12/16						chr17	TogoVar
MCF2L_chr13_112964214_113104742	113025098	GGGTCCCT others(47): Show GGGTCCCTGCAACTATGGGATGAGGCAGAGTCCCTGTGAGATTTCCCCAT CATGC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01993.hp1 others(7): Show HG01070.hp1 HG01071.hp1 HG01993.hp1 HG02273.hp2 HG02486.hp1 HG03195.hp1 HG03195.hp2 HG03490.hp1 HG03492.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0006 a0001c0006t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0006t0002 a0001c0006t0009	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0030 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0082 a0001c0001t0006g0027 a0001c0006t0002g0029 a0001c0006t0009g0028	10	116	0.0862	-54	c.278 others(69): Show c.278+347_278+400delTGCAACTATGGGATGAGGCAGAGTCCCTGT GAGATTTCCCCATCATGCGGTCCC		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113025359	GTCATGGT others(47): Show GTCATGGTGGGGTCCCCGTGACTGTGGGTCGGGGCAGAGTCTCTGTGAGG TTTCA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	116	0.0086	-54	c.278 others(69): Show c.278+714_278+767delGGTGGGGTCCCCGTGACTGTGGGTCGGGGC AGAGTCTCTGTGAGGTTTCATCAT		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113026070	CGGTCCCC others(47): Show CGGTCCCCGTGACTGTGGGTCGGGGCAGAGTCTCTGTGAGGTTTCATCAT GGTGG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	116	0.0086	-54	c.278 others(71): Show c.278+1355_278+1408delTCATCATGGTGGGGTCCCCGTGACTGTG GGTCGGGGCAGAGTCTCTGTGAGGTT		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113033345	TAGTGGAC others(47): Show TAGTGGACCCCGTGGCGTGAGTGGCCCCCGTGACGTGAGTGGCCCCCGTG ATGTG	T T	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0072 a0002c0007t0001g0072	1	116	0.0086	-54	c.278 others(71): Show c.278+8616_278+8669delGTGACGTGAGTGGCCCCCGTGATGTGAG TGGACCCCGTGGCGTGAGTGGCCCCC		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2_chrX_139576770_139713167	139709428	CATAGTAT others(47): Show CATAGTATATATAGCATATACTATGTATATAGTATATGCTATATATACTA TGTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG01109.hp1 others(62): Show HG00621.hp1 HG00639.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03669.hp2 HG03831.hp2 HG03942.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18955.hp1 NA18965.hp1 NA18969.hp2 NA18995.hp1 NA19012.hp1 NA19079.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0002c0004t0003 a0003c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0022 others(59): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0086 a0001c0001t0001g0140 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0004g0208 a0001c0001t0005g0178 a0001c0001t0006g0167 a0001c0002t0001g0015 a0001c0002t0001g0141 a0001c0002t0001g0151 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0003t0001g0002 a0001c0003t0001g0185 a0001c0003t0001g0197 a0001c0003t0001g0203 a0001c0005t0001g0152 a0001c0005t0001g0154 a0002c0004t0003g0165 a0002c0004t0003g0166 a0003c0008t0001g0153	65	249	0.2610	-54	c.-14 others(65): Show c.-1421_-1368delATACATAGTATATATAGCATATACTATATACATA GTATATGCTATATATACTAT		MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding					1262		chrX	TogoVar
MCRS1_chr12_49553299_49573142	49564156	CCCGCCCA others(47): Show CCCGCCCAAAGCCACAACACACACAGTGCACTCCGGGCACTCATTTTAGT TTTCT	C C	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19074.hp2 NA19056.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	2	308	0.0065	-54	c.557 others(69): Show c.557+271_557+324delAGAAAACTAAAATGAGTGCCCGGAGTGCAC TGTGTGTGTTGTGGCTTTGGGCGG		MCRS1	ENSG00000187778.14	transcript	ENST00000343810.9	protein_coding	6/14						chr12	TogoVar
MDGA1_chr6_37625679_37702883	37698156	TTCTCTTT others(47): Show TTCTCTTTCTCTTTCTCTTTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03225.hp1 HG02622.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0068 a0001c0006t0069 a0001c0003t0068 a0001c0006t0069	a0001c0003t0068g0077 a0001c0006t0069g0078 a0001c0003t0068g0077 a0001c0006t0069g0078	2	402	0.0050	-54	c.-13 others(65): Show c.-1399_-1346delGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGA GAAAGAGAAAGAGAAAGAGA		MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding					274		chr6	TogoVar
MECOM_chr3_169078507_169668712	169191700	AAAAGAAA others(47): Show AAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAAAGAGAAAGAAA GAAAG	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0096 a0001c0001t0005g0096	1	160	0.0063	-54	c.376 others(73): Show c.376-47922_376-47869delCTTTCTTTCTTTCTCTTTCTTTCTTT CTTTCTTTTTTTCTTTCTTTCTTTCTTT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169485933	GTATATAT others(47): Show GTATATATGTATGTATATATGTACATATATACTATATATACATATATATA TAGTA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0016 a0001c0001t0015g0016	1	160	0.0063	-54	c.38- others(73): Show c.38-104463_38-104410delTACTATATATATATGTATATATAGTA TATATGTACATATATACATACATATATA		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MED12L_chr3_151080664_151441653	151293584	CACACACA others(47): Show CACACACACACACACACACACACACACACACACACGGTCCTAAAATGAAG CCCTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02735.hp1 HG03669.hp1 others(3): Show HG01168.hp2 HG02735.hp1 HG03669.hp1 HG04115.hp1 HG04184.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0022 a0002c0003 a0001c0001 a0001c0022 a0002c0003	a0001c0001t0004 a0001c0001t0013 a0001c0022t0003 others(3): Show a0001c0001t0004 a0001c0001t0013 a0001c0022t0003 a0002c0003t0002 a0002c0003t0004 a0002c0003t0006	a0001c0001t0004g0172 a0001c0001t0013g0121 a0001c0022t0003g0208 others(3): Show a0001c0001t0004g0172 a0001c0001t0013g0121 a0001c0022t0003g0208 a0002c0003t0002g0056 a0002c0003t0004g0165 a0002c0003t0006g0049	6	280	0.0214	-54	c.225 others(75): Show c.2251-56440_2251-56387delGGTCCTAAAATGAAGCCCTTACAC ACACACACACACACACACACACACACACAC		MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44					INFO_REALIGN_3_PRIME	chr3	TogoVar
MED16_chr19_862963_898187	872931	AGGAGGGC others(47): Show AGGAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGTGGGGCAGGGCTCCGAG GTGGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	56	0.0179	-54	c.190 others(71): Show c.1905+464_1905+517delCCCACCTCGGAGCCCTGCCCCACCTCGG AGCCCTCCCCCACCTCGGAGCCCTCC		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15						chr19	TogoVar
MED16_chr19_862963_898187	873077	GAGGGCTC others(47): Show GAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGTGGGGCAGGGCTCCGAGAT GGGGC	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0048 a0007c0011t0001g0048	1	56	0.0179	-54	c.190 others(71): Show c.1905+318_1905+371delGCCCCATCTCGGAGCCCTGCCCCACCTC GGAGCCCTCCCCCACCTCGGAGCCCT		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15						chr19	TogoVar
MEGF6_chr1_3482951_3616508	3583288	ACAGCCAC others(47): Show ACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03540.hp2 HG03471.hp1 HG03540.hp2	a0030 a0086 a0030 a0086	a0030c0024 a0086c0099 a0030c0024 a0086c0099	a0030c0024t0063 a0086c0099t0007 a0030c0024t0063 a0086c0099t0007	a0030c0024t0063g0266 a0086c0099t0007g0229 a0030c0024t0063g0266 a0086c0099t0007g0229	2	292	0.0069	-54	c.377 others(71): Show c.377-3413_377-3360delCGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3585948	AGGACGCA others(47): Show AGGACGCATGTCCTGTGTGTGGGTGTGTGGACGCATGTCCTGTGTGTGGG TGTGT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp2 HG03225.hp2 others(4): Show HG02717.hp1 HG02976.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 NA19030.hp1 NA19030.hp2	a0009 a0015 a0021 others(4): Show a0009 a0015 a0021 a0030 a0065 a0082 a0100	a0009c0114 a0015c0013 a0021c0026 others(4): Show a0009c0114 a0015c0013 a0021c0026 a0030c0024 a0065c0060 a0082c0074 a0100c0070	a0009c0114t0023 a0015c0013t0020 a0021c0026t0030 others(4): Show a0009c0114t0023 a0015c0013t0020 a0021c0026t0030 a0030c0024t0063 a0065c0060t0061 a0082c0074t0008 a0100c0070t0029	a0009c0114t0023g0003 a0015c0013t0020g0289 a0021c0026t0030g0267 others(4): Show a0009c0114t0023g0003 a0015c0013t0020g0289 a0021c0026t0030g0267 a0030c0024t0063g0266 a0065c0060t0061g0288 a0082c0074t0008g0240 a0100c0070t0029g0291	7	292	0.0240	-54	c.377 others(71): Show c.377-6073_377-6020delACACACCCACACACAGGACATGCGTCCA CACACCCACACACAGGACATGCGTCC		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEIKIN_chr5_131801990_131950663	131849356	GAACCTCT others(47): Show GAACCTCTTTTCTTTATATATATAAAGAAACCTCTTTTCTTTATATATAT AAAGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp1 HG01071.hp2 others(66): Show HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01261.hp1 HG01934.hp1 HG01993.hp1 HG02015.hp2 HG02074.hp1 HG02135.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03239.hp1 HG03486.hp2 HG03704.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18970.hp2 NA18971.hp1 NA18988.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19006.hp2 NA19007.hp1 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0054 others(65): Show a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0095 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0002g0189 a0001c0002t0001g0003 a0001c0002t0001g0233 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0263 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0281 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0003t0001g0305 a0001c0003t0001g0306 a0001c0003t0001g0309	69	346	0.1994	-54	c.975 others(71): Show c.975+1854_975+1907delTCTTTATATATATAAAGAAAAGAGGTTT CTTTATATATATAAAGAAAAGAGGTT		MEIKIN	ENSG00000239642.6	transcript	ENST00000442687.6	protein_coding	11/12						chr5	TogoVar
MESP1_chr15_89744875_89756249	89746347	ACATCCAC others(47): Show ACATCCACACATCCACACAGCATCCACACCTCCACACATCCACACATCCA CACAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02647.hp2 others(3): Show HG01891.hp2 HG02280.hp2 HG02647.hp2 HG03041.hp2 HG03209.hp1 HG03471.hp1	a0002 a0002	a0002c0011 a0002c0012 a0002c0011 a0002c0012	a0002c0011t0002 a0002c0012t0002 a0002c0011t0002 a0002c0012t0002	a0002c0011t0002g0024 a0002c0012t0002g0014 a0002c0011t0002g0024 a0002c0012t0002g0014	6	428	0.0140	-54	c.37 others(65): Show c.3743_*3796delCTGTGTGGATGTGTGGATGTGTGGAGGTGTGGAT GCTGTGTGGATGTGTGGATG		MESP1	ENSG00000166823.6	transcript	ENST00000300057.5	protein_coding					3527		chr15	TogoVar
MFGE8_chr15_88893683_88918379	88915872	GTGTATAT others(47): Show GTGTATATATATATGTATATATATGTGTATATATATATACATATATATAT GTATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0103 a0003c0004t0002g0103	1	436	0.0023	-54	c.-26 others(65): Show c.-2607_-2554delTATACATATATATATGTATATATATATACACATA TATATACATATATATATACA		MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding					2494		chr15	TogoVar
MGAM_chr7_141990879_142111747	142042566	AATATATA others(47): Show AATATATAATATATATTATATATACATATTATATATAATATATAATATAT ATTAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG00609.hp1 others(101): Show HG00280.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG03017.hp2 HG03139.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp1 NA18969.hp2 NA18978.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19074.hp2 NA19082.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0005 a0006 a0009 a0010 a0020 a0022 a0024 a0026 a0027 a0035 a0058 a0067 a0069 a0070 a0071	a0001c0001 a0001c0004 a0001c0005 others(41): Show a0001c0001 a0001c0004 a0001c0005 a0001c0011 a0001c0014 a0001c0023 a0001c0024 a0001c0026 a0001c0028 a0001c0031 a0001c0070 a0001c0071 a0001c0072 a0001c0075 a0001c0077 a0001c0085 a0001c0091 a0001c0094 a0001c0114 a0002c0002 a0002c0007 a0002c0013 a0002c0068 a0002c0073 a0003c0003 a0003c0006 a0003c0012 a0003c0027 a0003c0062 a0005c0054 a0006c0065 a0009c0142 a0010c0069 a0020c0106 a0022c0044 a0024c0029 a0026c0067 a0027c0099 a0035c0060 a0058c0056 a0067c0088 a0069c0103 a0070c0108 a0071c0098	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(41): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0011t0001 a0001c0014t0001 a0001c0023t0001 a0001c0024t0001 a0001c0026t0001 a0001c0028t0001 a0001c0031t0001 a0001c0070t0001 a0001c0071t0001 a0001c0072t0001 a0001c0075t0001 a0001c0077t0001 a0001c0085t0001 a0001c0091t0001 a0001c0094t0001 a0001c0114t0001 a0002c0002t0001 a0002c0007t0001 a0002c0013t0001 a0002c0068t0001 a0002c0073t0001 a0003c0003t0001 a0003c0006t0001 a0003c0012t0001 a0003c0027t0001 a0003c0062t0001 a0005c0054t0001 a0006c0065t0001 a0009c0142t0001 a0010c0069t0001 a0020c0106t0001 a0022c0044t0001 a0024c0029t0001 a0026c0067t0001 a0027c0099t0001 a0035c0060t0001 a0058c0056t0001 a0067c0088t0001 a0069c0103t0001 a0070c0108t0001 a0071c0098t0001	a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0130 others(100): Show a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0004t0001g0048 a0001c0004t0001g0072 a0001c0004t0001g0094 a0001c0004t0001g0168 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0004t0001g0180 a0001c0004t0001g0229 a0001c0004t0001g0256 a0001c0005t0001g0045 a0001c0005t0001g0191 a0001c0005t0001g0211 a0001c0005t0001g0214 a0001c0005t0001g0258 a0001c0005t0001g0278 a0001c0011t0001g0195 a0001c0011t0001g0208 a0001c0011t0001g0268 a0001c0011t0001g0302 a0001c0014t0001g0198 a0001c0023t0001g0106 a0001c0023t0001g0179 a0001c0024t0001g0001 a0001c0026t0001g0105 a0001c0028t0001g0128 a0001c0028t0001g0129 a0001c0031t0001g0207 a0001c0070t0001g0161 a0001c0071t0001g0276 a0001c0072t0001g0163 a0001c0075t0001g0134 a0001c0077t0001g0217 a0001c0085t0001g0290 a0001c0091t0001g0197 a0001c0094t0001g0220 a0001c0114t0001g0227 a0002c0002t0001g0067 a0002c0007t0001g0013 a0002c0007t0001g0135 a0002c0007t0001g0153 a0002c0007t0001g0162 a0002c0007t0001g0189 a0002c0013t0001g0052 a0002c0013t0001g0093 a0002c0013t0001g0118 a0002c0068t0001g0030 a0002c0073t0001g0164 a0003c0003t0001g0050 a0003c0003t0001g0121 a0003c0003t0001g0124 a0003c0003t0001g0183 a0003c0003t0001g0192 a0003c0003t0001g0194 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0209 a0003c0003t0001g0252 a0003c0003t0001g0263 a0003c0003t0001g0267 a0003c0006t0001g0155 a0003c0012t0001g0107 a0003c0012t0001g0177 a0003c0012t0001g0188 a0003c0012t0001g0212 a0003c0027t0001g0127 a0003c0027t0001g0132 a0003c0062t0001g0076 a0005c0054t0001g0181 a0006c0065t0001g0126 a0009c0142t0001g0070 a0010c0069t0001g0213 a0020c0106t0001g0049 a0022c0044t0001g0296 a0022c0044t0001g0297 a0024c0029t0001g0248 a0026c0067t0001g0313 a0027c0099t0001g0077 a0035c0060t0001g0009 a0058c0056t0001g0186 a0067c0088t0001g0249 a0069c0103t0001g0275 a0070c0108t0001g0210 a0071c0098t0001g0266	104	316	0.3291	-54	c.249 others(73): Show c.2498+1726_2498+1779delTAATATATATTATATATACATATTAT ATATAATATATAATATATATTATATATA		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MIB2_chr1_1610500_1635605	1628107	ACATCGAT others(47): Show ACATCGATGTTACCGCCACCAACAGCCAGGGTTTCACCCTGCTGCACCAT GCCTC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01255.hp2 HG01255.hp2	a0006 a0006	a0006c0041 a0006c0041	a0006c0041t0002 a0006c0041t0002	a0006c0041t0002g0121 a0006c0041t0002g0121	1	412	0.0024	-54	c.177 others(63): Show c.1771_1824delATCGATGTTACCGCCACCAACAGCCAGGGTTTCACC CTGCTGCACCATGCCTCC	p.Ile others(13): Show p.Ile591_Ser608del	MIB2	ENSG00000197530.13	transcript	ENST00000355826.10	protein_coding	14/20	2034/3206	1771/2868	591/955		INFO_REALIGN_3_PRIME	chr1	TogoVar

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