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
MBOAT1_chr6_20094684_20217469	20168599	G G	GAGAGAAG others(8): Show GAGAGAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp2 HG01975.hp2 others(3): Show HG01496.hp2 HG01891.hp2 HG01975.hp2 HG02615.hp2 HG03486.hp2 NA18522.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0002c0002t0015 a0004c0004t0030	a0001c0001t0001g0096 a0001c0001t0009g0021 a0001c0001t0010g0276 others(3): Show a0001c0001t0001g0096 a0001c0001t0009g0021 a0001c0001t0010g0276 a0001c0001t0011g0279 a0002c0002t0015g0313 a0004c0004t0030g0326	6	336	0.0179	15	c.100 others(34): Show c.100-15845_100-15831dupTCTCTTCTCTTCTCT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20168615	A A	AGAGAGGA others(8): Show AGAGAGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG01243.hp1 HG02257.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0012 a0003c0003t0002 a0001c0001t0012 a0003c0003t0002	a0001c0001t0012g0138 a0003c0003t0002g0229 a0001c0001t0012g0138 a0003c0003t0002g0229	2	336	0.0060	15	c.100 others(34): Show c.100-15847_100-15846insCTCTCCTCTCCTCTC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20168620	A A	AGAGAGGA others(8): Show AGAGAGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0220 a0001c0001t0008g0220	1	336	0.0030	15	c.100 others(34): Show c.100-15852_100-15851insCTCTCCTCTCCTCTC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20168625	A A	AGAGAGGA others(8): Show AGAGAGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0139 a0003c0003t0006g0139	1	336	0.0030	15	c.100 others(34): Show c.100-15857_100-15856insCTCTCCTCTCCTCTC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20192995	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03195.hp1 HG02976.hp2 HG03195.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0050 a0003c0003t0065 a0001c0001t0050 a0003c0003t0065	a0001c0001t0050g0280 a0003c0003t0065g0302 a0001c0001t0050g0280 a0003c0003t0065g0302	2	336	0.0060	15	c.99+ others(32): Show c.99+19126_99+19140dupAAAAAAAAAAAAAAA	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20202351	C C	CGTTTTGT others(8): Show CGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01358.hp2 HG01433.hp2 others(3): Show HG01099.hp1 HG01358.hp2 HG01433.hp2 HG01934.hp2 HG02698.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0028 a0001c0001t0057	a0001c0001t0003g0055 a0001c0001t0007g0127 a0001c0001t0008g0129 others(3): Show a0001c0001t0003g0055 a0001c0001t0007g0127 a0001c0001t0008g0129 a0001c0001t0011g0152 a0001c0001t0028g0291 a0001c0001t0057g0287	6	336	0.0179	15	c.99+ others(30): Show c.99+9784_99+9785insAAAACAAAACAAAAC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20208445	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp2 HG02109.hp1 others(5): Show HG01261.hp2 HG01891.hp2 HG02109.hp1 HG02451.hp1 HG02572.hp1 HG02630.hp2 NA18522.hp1 NA19043.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0015 a0002c0002t0019 a0002c0002t0029 others(3): Show a0002c0002t0015 a0002c0002t0019 a0002c0002t0029 a0002c0002t0031 a0002c0002t0032 a0004c0004t0075	a0002c0002t0015g0307 a0002c0002t0015g0312 a0002c0002t0015g0313 others(5): Show a0002c0002t0015g0307 a0002c0002t0015g0312 a0002c0002t0015g0313 a0002c0002t0019g0308 a0002c0002t0029g0311 a0002c0002t0031g0310 a0002c0002t0032g0315 a0004c0004t0075g0309	8	336	0.0238	15	c.99+ others(30): Show c.99+3690_99+3691insTTTTTTTTTTTTTTT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT2_chr2_8847690_9008684	8912299	A A	AAAAGAAA others(8): Show AAAAGAAAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	162	0.0062	15	c.300 others(32): Show c.300-3584_300-3583insCTTTCTTCTTTCTTT	MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	3/12			chr2	TogoVar
MBOAT7_chr19_54168415_54194580	54168793	C C	CTTTCTTT others(8): Show CTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0295 a0001c0001t0009g0295	1	373	0.0027	15	c.52 others(26): Show c.5236_*5250dupAGAAAAGAAAAGAAA	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		4621		chr19	TogoVar
MBP_chr18_76973833_77137783	76975154	C C	CCTTTTCT others(8): Show CCTTTTCTTTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0018 a0001c0001t0017g0018	1	396	0.0025	15	c.52 others(26): Show c.5272_*5273insAAAAGAAAAGAAAAG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3678		chr18	TogoVar
MBP_chr18_76973833_77137783	76975180	C C	CTTCTTTT others(8): Show CTTCTTTTCTTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02965.hp1 HG06807.hp1 others(1): Show HG01891.hp1 HG02965.hp1 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0214 a0001c0002t0001g0004 a0001c0002t0001g0142 others(1): Show a0001c0001t0001g0214 a0001c0002t0001g0004 a0001c0002t0001g0142 a0001c0002t0001g0162	4	396	0.0101	15	c.52 others(26): Show c.5246_*5247insAAGAAAAGAAAAGAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3652		chr18	TogoVar
MBP_chr18_76973833_77137783	77025705	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02486.hp1 HG02886.hp2 others(8): Show HG01981.hp1 HG02486.hp1 HG02886.hp2 HG02896.hp1 HG03490.hp2 NA18971.hp2 NA18984.hp2 NA19005.hp2 NA19057.hp2 NA19058.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0009 a0001c0001t0010 a0001c0001t0026 others(6): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0026 a0001c0001t0029 a0001c0001t0042 a0001c0002t0001 a0001c0002t0008 a0001c0002t0030 a0001c0003t0010	a0001c0001t0009g0133 a0001c0001t0010g0021 a0001c0001t0010g0068 others(8): Show a0001c0001t0009g0133 a0001c0001t0010g0021 a0001c0001t0010g0068 a0001c0001t0026g0364 a0001c0001t0029g0394 a0001c0001t0042g0220 a0001c0002t0001g0056 a0001c0002t0001g0187 a0001c0002t0008g0377 a0001c0002t0030g0093 a0001c0003t0010g0015	11	396	0.0278	15	c.140 others(32): Show c.140-8452_140-8438dupAAAAAAAAAAAAAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77057824	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02976.hp2 HG02897.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0017 a0001c0003t0010 a0001c0001t0017 a0001c0003t0010	a0001c0001t0017g0009 a0001c0003t0010g0141 a0001c0001t0017g0009 a0001c0003t0010g0141	2	396	0.0051	15	c.139 others(32): Show c.139+8459_139+8473dupAAAAAAAAAAAAAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77084431	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0237 a0001c0002t0002g0237	1	396	0.0025	15	c.52- others(32): Show c.52-18047_52-18046insTGTGTGTGTGTGTGT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77098168	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03130.hp1 HG03704.hp1 others(1): Show HG00642.hp2 HG03130.hp1 HG03704.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0008 a0001c0003t0024 a0001c0001t0004 a0001c0001t0008 a0001c0003t0024	a0001c0001t0004g0050 a0001c0001t0004g0057 a0001c0001t0008g0335 others(1): Show a0001c0001t0004g0050 a0001c0001t0004g0057 a0001c0001t0008g0335 a0001c0003t0024g0219	4	396	0.0101	15	c.51+ others(30): Show c.51+7028_51+7042dupAAAAAAAAAAAAAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77117828	G G	GGGTTGGA others(8): Show GGGTTGGAGTGGGACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp2 others(28): Show HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00741.hp2 HG01123.hp1 HG01255.hp1 HG01993.hp2 HG02055.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG03834.hp1 HG04204.hp2 NA18939.hp1 NA18942.hp1 NA18946.hp1 NA18947.hp2 NA18961.hp1 NA18964.hp2 NA18972.hp1 NA18983.hp2 NA18992.hp2 NA18995.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp2 NA19056.hp2 NA19060.hp2 NA19068.hp2 NA19086.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0006 others(2): Show a0001c0001 a0001c0002 a0002c0006 a0003c0004 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0001t0024 a0001c0001t0047 a0001c0001t0053 a0001c0002t0001 a0001c0002t0002 a0001c0002t0019 a0002c0006t0001 a0003c0004t0011 a0005c0007t0001	a0001c0001t0001g0102 a0001c0001t0001g0188 a0001c0001t0001g0190 others(28): Show a0001c0001t0001g0102 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0002g0328 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0005g0321 a0001c0001t0006g0233 a0001c0001t0006g0285 a0001c0001t0006g0322 a0001c0001t0006g0323 a0001c0001t0006g0324 a0001c0001t0006g0326 a0001c0001t0006g0327 a0001c0001t0014g0284 a0001c0001t0016g0372 a0001c0001t0024g0227 a0001c0001t0047g0332 a0001c0001t0053g0392 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0187 a0001c0002t0001g0192 a0001c0002t0002g0287 a0001c0002t0002g0297 a0001c0002t0019g0286 a0002c0006t0001g0189 a0003c0004t0011g0134 a0005c0007t0001g0191	31	396	0.0783	15	c.-25 others(34): Show c.-25-12543_-25-12542insTGTCCCACTCCAACC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0251 a0001c0001t0047g0251	1	340	0.0029	15	c.41 others(26): Show c.4153_*4154insATATTTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG00408.hp1 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0120 a0001c0001t0020 a0001c0001t0120	a0001c0001t0020g0050 a0001c0001t0120g0293 a0001c0001t0020g0050 a0001c0001t0120g0293	2	340	0.0059	15	c.41 others(26): Show c.4153_*4154insATATATATTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190746	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0016 a0001c0002t0065g0016	1	340	0.0029	15	c.176 others(34): Show c.1768+1456_1768+1457insATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0047 a0001c0001t0096g0047	1	340	0.0029	15	c.176 others(34): Show c.1768+1452_1768+1453insATATATATTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTD1_chr17_51172425_51265049	51194566	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01346.hp1 others(6): Show HG01167.hp1 HG01169.hp2 HG01346.hp1 HG02572.hp2 HG02723.hp1 HG02965.hp1 HG03195.hp2 HG03942.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0028 others(3): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0048	a0001c0001t0006g0072 a0001c0001t0008g0007 a0001c0001t0008g0074 others(6): Show a0001c0001t0006g0072 a0001c0001t0008g0007 a0001c0001t0008g0074 a0001c0001t0028g0003 a0001c0001t0028g0004 a0001c0001t0029g0071 a0001c0001t0031g0006 a0001c0001t0031g0063 a0001c0001t0048g0008	9	340	0.0265	15	c.137 others(32): Show c.1372+633_1372+647dupTTTTTTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	13/16			chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21879949	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp1 HG00642.hp1 others(26): Show HG00544.hp2 HG00639.hp1 HG00642.hp1 HG01243.hp1 HG01928.hp1 HG02074.hp1 HG02273.hp1 HG02293.hp1 HG02572.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG04184.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp1 NA18961.hp1 NA18981.hp1 NA18984.hp1 NA19005.hp1 NA19012.hp1 NA19065.hp2 NA19075.hp1 NA19078.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0002t0002 a0004c0006t0001	a0001c0001t0001g0009 a0001c0001t0001g0139 a0001c0001t0001g0150 others(24): Show a0001c0001t0001g0009 a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0218 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0002g0016 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0013g0265 a0001c0002t0002g0038 a0004c0006t0001g0193	29	308	0.0942	15	c.126 others(32): Show c.1262-941_1262-927dupTTTTTTTTTTTTTTT	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MC1R_chr16_89913862_89925972	89916992	A A	ATATATAT others(8): Show ATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18940.hp2 NA18612.hp1 NA18940.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	2	396	0.0051	15	c.-22 others(26): Show c.-2267_-2266insTATATATATATATTT	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		1869		chr16	TogoVar
MC1R_chr16_89913862_89925972	89916992	A A	ATATATAT others(8): Show ATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02129.hp1 NA19062.hp1 HG00673.hp2 HG02129.hp1 NA19062.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	3	396	0.0076	15	c.-22 others(26): Show c.-2267_-2266insTATATATATATTTTT	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		1869		chr16	TogoVar
MC1R_chr16_89913862_89925972	89916992	A A	ATATATAT others(8): Show ATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	1	396	0.0025	15	c.-22 others(26): Show c.-2267_-2266insTATATATATTTTTTT	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		1869		chr16	TogoVar
MC2R_chr18_13877044_13920536	13908706	T T	TTTGTGTG others(8): Show TTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01978.hp2 HG02004.hp1 others(8): Show HG01123.hp1 HG01978.hp2 HG02004.hp1 HG02148.hp2 HG03654.hp2 HG04115.hp2 NA18612.hp2 NA18992.hp2 NA19010.hp1 NA19010.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0041 a0001c0001t0048 a0001c0001t0077 a0001c0001t0084	a0001c0001t0002g0217 a0001c0001t0003g0048 a0001c0001t0006g0010 others(4): Show a0001c0001t0002g0217 a0001c0001t0003g0048 a0001c0001t0006g0010 a0001c0001t0041g0283 a0001c0001t0048g0242 a0001c0001t0077g0235 a0001c0001t0084g0246	11	416	0.0264	15	c.-12 others(34): Show c.-129+6781_-129+6782insCACACACACACACAA	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	1/1			chr18	TogoVar
MCCC2_chr5_71582340_71663706	71633127	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	350	0.0029	15	c.803 others(30): Show c.803+945_803+946insTTTTTTTTTTTTTAT	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
MCCC2_chr5_71582340_71663706	71633131	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	350	0.0029	15	c.803 others(30): Show c.803+947_803+948insATTTTTTTTTTTTTT	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
MCCC2_chr5_71582340_71663706	71633131	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	350	0.0029	15	c.803 others(30): Show c.803+951_803+952insTTTTTTTTTTTTTTT	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
MCC_chr5_113017106_113493453	113046685	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18612.hp1 NA18612.hp2 others(1): Show HG02040.hp2 NA18612.hp1 NA18612.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0042 a0002c0001 a0001c0004 a0001c0042 a0002c0001	a0001c0004t0002 a0001c0042t0001 a0002c0001t0002 a0001c0004t0002 a0001c0042t0001 a0002c0001t0002	a0001c0004t0002g0068 a0001c0042t0001g0038 a0002c0001t0002g0119 others(1): Show a0001c0004t0002g0068 a0001c0042t0001g0038 a0002c0001t0002g0119 a0002c0001t0002g0144	4	160	0.0250	15	c.265 others(34): Show c.2655+2393_2655+2407dupTTTTTTTTTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	16/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113046710	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA19043.hp2 HG02895.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0017 a0003c0006 a0001c0017 a0003c0006	a0001c0017t0003 a0003c0006t0017 a0001c0017t0003 a0003c0006t0017	a0001c0017t0003g0044 a0003c0006t0017g0023 a0001c0017t0003g0044 a0003c0006t0017g0023	2	160	0.0125	15	c.265 others(34): Show c.2655+2382_2655+2383insCTTTTTTTTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	16/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113046710	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0102 a0001c0007t0006g0102	1	160	0.0063	15	c.265 others(34): Show c.2655+2382_2655+2383insCTCTTTTTTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	16/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113327561	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0006 a0001c0016t0006	a0001c0016t0006g0042 a0001c0016t0006g0042	1	160	0.0063	15	c.627 others(34): Show c.627+12957_627+12958insATATATATATATTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113354802	A A	ATTATTAT others(8): Show ATTATTATTATTATTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01891.hp1 HG02055.hp2 others(10): Show HG01074.hp1 HG01891.hp1 HG02055.hp2 HG02145.hp2 HG02572.hp1 HG02622.hp2 HG02818.hp2 HG02895.hp2 HG02976.hp2 HG03225.hp1 NA19030.hp2 NA20129.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0008 a0001c0010 a0001c0011 others(4): Show a0001c0008 a0001c0010 a0001c0011 a0001c0016 a0001c0041 a0001c0044 a0003c0006	a0001c0008t0017 a0001c0008t0031 a0001c0008t0044 others(9): Show a0001c0008t0017 a0001c0008t0031 a0001c0008t0044 a0001c0010t0005 a0001c0010t0018 a0001c0010t0028 a0001c0011t0004 a0001c0016t0006 a0001c0016t0023 a0001c0041t0045 a0001c0044t0010 a0003c0006t0017	a0001c0008t0017g0050 a0001c0008t0031g0034 a0001c0008t0044g0046 others(10): Show a0001c0008t0017g0050 a0001c0008t0031g0034 a0001c0008t0044g0046 a0001c0010t0005g0033 a0001c0010t0018g0049 a0001c0010t0028g0035 a0001c0011t0004g0048 a0001c0011t0004g0051 a0001c0016t0006g0052 a0001c0016t0023g0047 a0001c0041t0045g0067 a0001c0044t0010g0053 a0003c0006t0017g0023	13	160	0.0813	15	c.416 others(34): Show c.416-14073_416-14072insCAATAATAATAATAA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	2/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113456623	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18972.hp1 NA18957.hp2 NA18972.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0019 a0003c0005t0030 a0003c0005t0019 a0003c0005t0030	a0003c0005t0019g0027 a0003c0005t0030g0024 a0003c0005t0019g0027 a0003c0005t0030g0024	2	160	0.0125	15	c.170 others(34): Show c.170+31607_170+31621dupAAAAAAAAAAAAAAA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	1/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113471762	C C	CCAGAGGT others(8): Show CCAGAGGTGGAGCCTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(123): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03654.hp1 HG04115.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009	a0001c0003 a0001c0004 a0001c0007 others(39): Show a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0016 a0001c0017 a0001c0018 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0041 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0001c0047 a0001c0050 a0001c0051 a0001c0052 a0002c0001 a0002c0002 a0002c0013 a0002c0029 a0002c0056 a0002c0057 a0004c0019 a0004c0053 a0004c0054 a0004c0055 a0006c0048 a0007c0049 a0008c0046 a0009c0058	a0001c0003t0001 a0001c0003t0009 a0001c0003t0012 others(77): Show a0001c0003t0001 a0001c0003t0009 a0001c0003t0012 a0001c0003t0019 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0035 a0001c0007t0006 a0001c0007t0020 a0001c0007t0022 a0001c0007t0034 a0001c0007t0038 a0001c0008t0003 a0001c0008t0004 a0001c0008t0017 a0001c0008t0031 a0001c0008t0044 a0001c0009t0008 a0001c0009t0011 a0001c0009t0025 a0001c0010t0005 a0001c0010t0018 a0001c0010t0028 a0001c0011t0001 a0001c0011t0004 a0001c0012t0005 a0001c0012t0013 a0001c0016t0006 a0001c0016t0023 a0001c0017t0002 a0001c0017t0003 a0001c0017t0006 a0001c0018t0007 a0001c0021t0008 a0001c0021t0026 a0001c0022t0001 a0001c0023t0010 a0001c0023t0040 a0001c0024t0009 a0001c0025t0041 a0001c0025t0042 a0001c0026t0002 a0001c0026t0003 a0001c0027t0001 a0001c0028t0024 a0001c0028t0043 a0001c0041t0045 a0001c0042t0001 a0001c0043t0021 a0001c0044t0010 a0001c0045t0027 a0001c0047t0002 a0001c0050t0005 a0001c0051t0009 a0001c0052t0004 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0014 a0002c0001t0033 a0002c0001t0037 a0002c0002t0001 a0002c0002t0012 a0002c0013t0003 a0002c0013t0015 a0002c0013t0016 a0002c0029t0001 a0002c0056t0003 a0002c0057t0029 a0004c0019t0003 a0004c0019t0004 a0004c0019t0014 a0004c0053t0001 a0004c0054t0001 a0004c0055t0005 a0006c0048t0001 a0007c0049t0001 a0008c0046t0039 a0009c0058t0007	a0001c0003t0001g0083 a0001c0003t0001g0095 a0001c0003t0001g0099 others(123): Show a0001c0003t0001g0083 a0001c0003t0001g0095 a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0009g0075 a0001c0003t0012g0097 a0001c0003t0019g0077 a0001c0004t0002g0068 a0001c0004t0002g0069 a0001c0004t0002g0098 a0001c0004t0003g0092 a0001c0004t0003g0093 a0001c0004t0004g0086 a0001c0004t0035g0084 a0001c0007t0006g0078 a0001c0007t0006g0102 a0001c0007t0020g0103 a0001c0007t0022g0108 a0001c0007t0034g0073 a0001c0007t0038g0076 a0001c0008t0003g0065 a0001c0008t0004g0066 a0001c0008t0017g0050 a0001c0008t0031g0034 a0001c0008t0044g0046 a0001c0009t0008g0072 a0001c0009t0008g0110 a0001c0009t0008g0111 a0001c0009t0011g0070 a0001c0009t0025g0096 a0001c0010t0005g0033 a0001c0010t0005g0036 a0001c0010t0018g0049 a0001c0010t0028g0035 a0001c0011t0001g0039 a0001c0011t0004g0048 a0001c0011t0004g0051 a0001c0011t0004g0054 a0001c0012t0005g0081 a0001c0012t0013g0088 a0001c0012t0013g0090 a0001c0012t0013g0091 a0001c0016t0006g0042 a0001c0016t0006g0052 a0001c0016t0023g0047 a0001c0017t0002g0040 a0001c0017t0003g0044 a0001c0017t0006g0055 a0001c0018t0007g0085 a0001c0018t0007g0104 a0001c0018t0007g0105 a0001c0021t0008g0058 a0001c0021t0026g0037 a0001c0022t0001g0032 a0001c0022t0001g0064 a0001c0023t0010g0059 a0001c0023t0040g0057 a0001c0024t0009g0045 a0001c0024t0009g0056 a0001c0025t0041g0063 a0001c0025t0042g0062 a0001c0026t0002g0074 a0001c0026t0003g0082 a0001c0027t0001g0071 a0001c0027t0001g0089 a0001c0028t0024g0087 a0001c0028t0043g0079 a0001c0041t0045g0067 a0001c0042t0001g0038 a0001c0043t0021g0043 a0001c0044t0010g0053 a0001c0045t0027g0061 a0001c0047t0002g0041 a0001c0050t0005g0106 a0001c0051t0009g0109 a0001c0052t0004g0107 a0002c0001t0002g0119 a0002c0001t0002g0121 a0002c0001t0002g0123 a0002c0001t0002g0124 a0002c0001t0002g0125 a0002c0001t0002g0127 a0002c0001t0002g0133 a0002c0001t0002g0144 a0002c0001t0002g0145 a0002c0001t0002g0146 a0002c0001t0002g0150 a0002c0001t0002g0155 a0002c0001t0003g0126 a0002c0001t0003g0136 a0002c0001t0003g0137 a0002c0001t0004g0152 a0002c0001t0014g0134 a0002c0001t0033g0142 a0002c0001t0037g0153 a0002c0002t0001g0120 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0143 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0012g0122 a0002c0013t0003g0141 a0002c0013t0015g0130 a0002c0013t0015g0139 a0002c0013t0016g0151 a0002c0029t0001g0131 a0002c0029t0001g0132 a0002c0056t0003g0135 a0002c0057t0029g0118 a0004c0019t0003g0113 a0004c0019t0004g0112 a0004c0019t0014g0117 a0004c0053t0001g0114 a0004c0054t0001g0115 a0004c0055t0005g0116 a0006c0048t0001g0094 a0007c0049t0001g0080 a0008c0046t0039g0060 a0009c0058t0007g0159	126	160	0.7875	15	c.170 others(34): Show c.170+16482_170+16483insTAGGCTCCACCTCTG	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	1/18			chr5	TogoVar
MCEMP1_chr19_7672090_7684829	7674859	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	448	0.0022	15	c.-22 others(26): Show c.-2262_-2261insTTTTTTTTTTTTTTT	MCEMP1	ENSG00000183019.8	transcript	ENST00000333598.8	protein_coding		2230		chr19	TogoVar
MCF2L2_chr3_183173041_183433619	183360956	C C	CAGAAAAG others(8): Show CAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19010.hp2 NA21309.hp1 NA18994.hp2 NA19010.hp2 NA21309.hp1	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0002c0002 a0017c0018 a0001c0001 a0002c0002 a0017c0018	a0001c0001t0002 a0002c0002t0001 a0017c0018t0003 a0001c0001t0002 a0002c0002t0001 a0017c0018t0003	a0001c0001t0002g0146 a0002c0002t0001g0099 a0017c0018t0003g0045 a0001c0001t0002g0146 a0002c0002t0001g0099 a0017c0018t0003g0045	3	176	0.0171	15	c.275 others(34): Show c.275+18326_275+18340dupTTTCTTTTCTTTTCT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183361077	G G	GAAGACAA others(8): Show GAAGACAAGACAAGAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp1 HG02280.hp2 others(3): Show HG01081.hp1 HG02109.hp1 HG02280.hp2 HG03098.hp1 HG03453.hp2 NA21309.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0001c0023 a0002c0002 others(1): Show a0001c0001 a0001c0023 a0002c0002 a0015c0015	a0001c0001t0002 a0001c0023t0010 a0002c0002t0002 others(2): Show a0001c0001t0002 a0001c0023t0010 a0002c0002t0002 a0002c0002t0006 a0015c0015t0004	a0001c0001t0002g0054 a0001c0001t0002g0146 a0001c0023t0010g0008 others(3): Show a0001c0001t0002g0054 a0001c0001t0002g0146 a0001c0023t0010g0008 a0002c0002t0002g0144 a0002c0002t0006g0051 a0015c0015t0004g0151	6	176	0.0341	15	c.275 others(34): Show c.275+18205_275+18219dupGTCTTGTCTTGTCTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183361102	C C	CAAGAAAA others(8): Show CAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02970.hp2 HG03130.hp2 others(5): Show HG02559.hp2 HG02970.hp2 HG03130.hp2 HG03486.hp1 NA18950.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0009 a0016 a0024	a0001c0016 a0002c0002 a0003c0003 others(4): Show a0001c0016 a0002c0002 a0003c0003 a0009c0010 a0009c0032 a0016c0017 a0024c0030	a0001c0016t0025 a0002c0002t0019 a0003c0003t0003 others(4): Show a0001c0016t0025 a0002c0002t0019 a0003c0003t0003 a0009c0010t0007 a0009c0032t0011 a0016c0017t0001 a0024c0030t0004	a0001c0016t0025g0166 a0002c0002t0019g0158 a0003c0003t0003g0105 others(5): Show a0001c0016t0025g0166 a0002c0002t0019g0158 a0003c0003t0003g0105 a0009c0010t0007g0159 a0009c0032t0011g0152 a0016c0017t0001g0153 a0016c0017t0001g0154 a0024c0030t0004g0165	8	176	0.0455	15	c.275 others(34): Show c.275+18194_275+18195insTTCTTTTCTTTTCTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183361102	C C	CAAGACAA others(8): Show CAAGACAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03453.hp1 HG02818.hp1 HG03453.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0022 a0005c0006t0014 a0003c0003t0022 a0005c0006t0014	a0003c0003t0022g0157 a0005c0006t0014g0156 a0003c0003t0022g0157 a0005c0006t0014g0156	2	176	0.0114	15	c.275 others(34): Show c.275+18194_275+18195insTTCTTTTCTTGTCTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183361105	G G	GAAAAGAA others(8): Show GAAAAGAAAAGAAAAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00735.hp2 others(18): Show HG00558.hp1 HG00609.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01952.hp2 HG02015.hp1 HG02155.hp1 HG02523.hp1 HG02683.hp2 HG02698.hp1 HG02895.hp1 HG03130.hp1 HG03831.hp2 NA18952.hp2 NA18970.hp2 NA18983.hp1 NA18994.hp1 NA19007.hp1 NA19010.hp1 NA19088.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0011 a0027	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0011c0011 a0027c0024	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0003c0003t0003 a0003c0003t0008 a0004c0004t0001 a0004c0004t0004 a0011c0011t0001 a0027c0024t0003	a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0067 others(18): Show a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0002g0004 a0001c0001t0002g0090 a0002c0002t0002g0015 a0003c0003t0003g0012 a0003c0003t0003g0083 a0003c0003t0003g0084 a0003c0003t0008g0024 a0004c0004t0001g0060 a0004c0004t0001g0135 a0004c0004t0004g0052 a0011c0011t0001g0028 a0011c0011t0001g0088 a0027c0024t0003g0058	21	176	0.1193	15	c.275 others(34): Show c.275+18191_275+18192insATTTTCTTTTCTTTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183361105	G G	GAAAATAA others(8): Show GAAAATAAAAGAAAAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0023 a0004c0004t0023	a0004c0004t0023g0169 a0004c0004t0023g0169	1	176	0.0057	15	c.275 others(34): Show c.275+18191_275+18192insATTTTCTTTTATTTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183421004	T T	TGAATATG others(8): Show TGAATATGTCATACCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00609.hp2 others(36): Show HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01515.hp2 HG02055.hp1 HG02074.hp1 HG02155.hp1 HG02257.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18952.hp1 NA18957.hp1 NA18968.hp1 NA18994.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0018 a0024	a0001c0001 a0001c0016 a0002c0002 others(16): Show a0001c0001 a0001c0016 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0008 a0007c0005 a0008c0007 a0009c0010 a0009c0032 a0010c0009 a0012c0013 a0013c0012 a0014c0014 a0015c0015 a0016c0017 a0018c0025 a0024c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0016t0011 a0002c0002t0001 a0002c0002t0002 a0002c0002t0019 a0003c0003t0003 a0003c0003t0022 a0004c0004t0001 a0004c0004t0016 a0004c0004t0021 a0005c0006t0003 a0005c0006t0014 a0006c0008t0001 a0006c0008t0009 a0007c0005t0001 a0008c0007t0002 a0009c0010t0007 a0009c0032t0011 a0010c0009t0001 a0010c0009t0002 a0012c0013t0026 a0013c0012t0001 a0013c0012t0009 a0014c0014t0002 a0015c0015t0004 a0016c0017t0001 a0018c0025t0003 a0024c0030t0004	a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 others(36): Show a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0002g0161 a0001c0001t0003g0139 a0001c0001t0010g0131 a0001c0016t0011g0163 a0002c0002t0001g0001 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0002g0144 a0002c0002t0019g0158 a0003c0003t0003g0145 a0003c0003t0022g0157 a0004c0004t0001g0135 a0004c0004t0016g0133 a0004c0004t0021g0149 a0005c0006t0003g0142 a0005c0006t0014g0156 a0006c0008t0001g0162 a0006c0008t0009g0175 a0007c0005t0001g0160 a0008c0007t0002g0132 a0009c0010t0007g0159 a0009c0032t0011g0152 a0010c0009t0001g0128 a0010c0009t0001g0129 a0010c0009t0001g0150 a0010c0009t0002g0130 a0012c0013t0026g0174 a0013c0012t0001g0164 a0013c0012t0009g0173 a0014c0014t0002g0148 a0015c0015t0004g0151 a0016c0017t0001g0153 a0016c0017t0001g0154 a0018c0025t0003g0143 a0024c0030t0004g0165	39	176	0.2216	15	c.76+ others(30): Show c.76+6897_76+6898insTGGTATGACATATTC	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	1/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113058943	C C	CTGTTTGG others(8): Show CTGTTTGGGTGCTGAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18522.hp1 HG03195.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0082 a0001c0001t0007g0017 a0001c0001t0001g0082 a0001c0001t0007g0017	2	116	0.0172	15	c.370 others(32): Show c.370-1644_370-1630dupGGGTGCTGAGTGTTT	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113058969	C C	CTGTTTGG others(8): Show CTGTTTGGGTGCTGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG00733.hp2 others(43): Show HG00323.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01891.hp1 HG01978.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02273.hp1 HG02300.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG03017.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03834.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA19066.hp1 NA19066.hp2 NA19081.hp2 NA19240.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0002c0007 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0015 a0001c0002t0016 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0006t0002 a0001c0006t0030 a0001c0008t0003 a0001c0008t0004 a0001c0010t0021 a0002c0007t0001 a0003c0009t0010	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0030 others(43): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0002g0048 a0001c0001t0002g0116 a0001c0001t0004g0070 a0001c0001t0007g0026 a0001c0001t0007g0035 a0001c0001t0008g0061 a0001c0001t0008g0066 a0001c0001t0017g0059 a0001c0001t0026g0034 a0001c0002t0001g0036 a0001c0002t0001g0040 a0001c0002t0001g0071 a0001c0002t0002g0003 a0001c0002t0002g0093 a0001c0002t0005g0060 a0001c0002t0015g0007 a0001c0002t0016g0054 a0001c0004t0001g0025 a0001c0004t0001g0103 a0001c0004t0003g0009 a0001c0004t0004g0046 a0001c0006t0002g0043 a0001c0006t0030g0096 a0001c0008t0003g0039 a0001c0008t0003g0044 a0001c0008t0004g0083 a0001c0010t0021g0015 a0002c0007t0001g0072 a0002c0007t0001g0074 a0002c0007t0001g0076 a0002c0007t0001g0112 a0002c0007t0001g0114 a0003c0009t0010g0115	46	116	0.3966	15	c.370 others(32): Show c.370-1618_370-1604dupGGGTGCTGAGTGTTT	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2_chrX_139576770_139713167	139696341	T T	TCTCTTCT others(8): Show TCTCTTCTCTCCTCTC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18980.hp1 NA18973.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0150 a0001c0002t0001g0059 a0001c0002t0001g0150	2	249	0.0080	15	c.-45 others(34): Show c.-45+11764_-45+11765insGAGAGGAGAGAAGAG	MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding	1/28			chrX	TogoVar
MCHR1_chr22_40674484_40687812	40677521	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0007 a0001c0002t0023g0007	1	406	0.0025	15	c.-21 others(26): Show c.-2132_-2131insTTTTTTTTTTTTTTT	MCHR1	ENSG00000128285.5	transcript	ENST00000249016.5	protein_coding		1962		chr22	TogoVar
MCHR2_chr6_99913519_99999223	99993509	T T	TCTTAGCA others(8): Show TCTTAGCAAACAAGCC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	316	0.0032	15	c.-28 others(30): Show c.-28+412_-28+426dupGGCTTGTTTGCTAAG	MCHR2	ENSG00000152034.11	transcript	ENST00000281806.7	protein_coding	1/5			chr6	TogoVar
MCIDAS_chr5_55214564_55232315	55214929	C C	CTTTTATT others(8): Show CTTTTATTTTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02080.hp2 NA18948.hp2 others(8): Show HG00423.hp1 HG02080.hp2 NA18948.hp2 NA18960.hp1 NA19005.hp2 NA19063.hp2 NA19067.hp2 NA19074.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0002 a0001c0001t0004g0005 a0001c0001t0004g0037 a0001c0001t0003g0002 a0001c0001t0004g0005 a0001c0001t0004g0037	11	386	0.0285	15	c.54 others(26): Show c.5436_*5437insTAAAATAAAATAAAA	MCIDAS	ENSG00000234602.9	transcript	ENST00000513312.3	protein_coding		4634		chr5	TogoVar

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