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
LMF2_chr22_50497949_50512702	50507735	CCCCAGGC others(83): Show CCCCAGGCCCCGCCTCCTCACCGCCCCGCCCGCCCAATCCGTGGCAGCCC CAAGCCCCGCCTCCTCGGCCCGCCCGCCCGCCCGCGGCAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02165.hp1 others(8): Show HG01167.hp2 HG01169.hp1 HG02165.hp1 HG02647.hp2 HG02922.hp1 HG03098.hp2 HG03669.hp2 HG04184.hp2 NA19005.hp2 NA19030.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0009 a0002c0008 others(1): Show a0001c0002 a0001c0009 a0002c0008 a0002c0022	a0001c0002t0001 a0001c0009t0001 a0002c0008t0001 others(2): Show a0001c0002t0001 a0001c0009t0001 a0002c0008t0001 a0002c0008t0002 a0002c0022t0004	a0001c0002t0001g0002 a0001c0009t0001g0074 a0002c0008t0001g0037 others(3): Show a0001c0002t0001g0002 a0001c0009t0001g0074 a0002c0008t0001g0037 a0002c0008t0001g0082 a0002c0008t0002g0013 a0002c0022t0004g0044	11	412	0.0267	-90	c.-15 others(98): Show c.-150_-61delACTGCCGCGGGCGGGCGGGCGGGCCGAGGAGGCGGGG CTTGGGGCTGCCACGGATTGGGCGGGCGGGGCGGTGAGGAGGCGGGGCCT GGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding					34		chr22	TogoVar
LORICRIN_chr1_153254687_153267124	153261270	TGGGGGCG others(83): Show TGGGGGCGGCTCCGGCTGCTTCTCCTCCGGTGGCGGCGGCTCCTCCGGGG GCGGCTCCGGCTGCTTCTCCAGCGGTGGGGGCGGCTCCTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01361.hp1 HG01361.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0001 a0006c0016t0001g0001	1	420	0.0024	-90	c.351 others(97): Show c.351_440delTGGCGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCT CCAGCGGTGGGGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCTCC GG	p.Gly others(13): Show p.Gly118_Gly147del	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding	2/2	421/1245	351/939	117/312		INFO_REALIGN_3_PRIME	chr1	TogoVar
LPCAT1_chr5_1456427_1528960	1459036	GTGTACAT others(83): Show GTGTACATGTGTAAGCCTCAGCATGAGTGCATGTGAGCATGTGTGTACAT GTGTAAGCCTCAGCATGAGTGCATGTGAGCATGTGTGTACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	384	0.0026	-90	c.45 others(101): Show c.4525_*4614delTGTACACACATGCTCACATGCACTCATGCTGAGG CTTACACATGTACACACATGCTCACATGCACTCATGCTGAGGCTTACACA TGTACA		LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding					2390		chr5	TogoVar
LRBA_chr4_150259435_151020284	150639736	AATATATA others(83): Show AATATATATATATATATATATATATATATATATATATATATATATATGTG TGTGTGTATATATATATATATGTGTGTGTGTGTGTATATAT	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19091.hp1 NA18970.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0097 a0001c0001t0002g0082 a0001c0001t0002g0097	2	174	0.0115	-90	c.592 others(111): Show c.5922-40695_5922-40606delATATATACACACACACACACATAT ATATATATATACACACACACATATATATATATATATATATATATATATAT ATATATATATATATAT		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56						chr4	TogoVar
LRCH3_chr3_197786254_197893436	197869587	CTGTACCT others(83): Show CTGTACCTGCAGGAAGTAGAAAGCGATACACTGTACCTGCAGGAGGTAGA AAGCCATGCAGTGTACCTGCAGGAGGTAGAAAGCCATGCAG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02027.hp2 HG03209.hp2 others(1): Show HG01891.hp2 HG02027.hp2 HG03209.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0012 a0001c0001t0051 a0001c0002t0012 others(1): Show a0001c0001t0012 a0001c0001t0051 a0001c0002t0012 a0001c0012t0012	a0001c0001t0012g0268 a0001c0001t0051g0099 a0001c0002t0012g0047 others(1): Show a0001c0001t0012g0268 a0001c0001t0051g0099 a0001c0002t0012g0047 a0001c0012t0012g0021	4	289	0.0138	-90	c.187 others(107): Show c.1874-559_1874-470delAGTAGAAAGCGATACACTGTACCTGCAG GAGGTAGAAAGCCATGCAGTGTACCTGCAGGAGGTAGAAAGCCATGCAGT GTACCTGCAGGA		LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRMDA_chr10_75426624_76565168	75691064	CCATAGAT others(83): Show CCATAGATATATAGATCTATATATCTATGTACATAGATATATAGATCTAT ATATCTATATACATAGATATATAGATCTATATATCTATATA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02145.hp1 HG02572.hp2 others(5): Show HG00639.hp1 HG02145.hp1 HG02572.hp2 HG02976.hp1 HG03195.hp1 HG03209.hp1 NA18906.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0014 a0002c0006t0009	a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0006g0009 others(5): Show a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0006g0009 a0001c0002t0002g0036 a0001c0002t0003g0030 a0001c0002t0006g0020 a0001c0002t0014g0041 a0002c0006t0009g0001	8	46	0.1739	-90	c.131 others(111): Show c.131+252613_131+252702delGATCTATATATCTATATACATAGA TATATAGATCTATATATCTATATACATAGATATATAGATCTATATATCTA TGTACATAGATATATA		LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132359009	GAGCAGCG others(83): Show GAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGTGTGGGGAGGAGCCG AGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01192.hp2 HG02280.hp1 others(9): Show HG01069.hp1 HG01192.hp2 HG02280.hp1 HG02486.hp1 HG02622.hp1 HG02895.hp2 HG02897.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0182 a0001c0001t0005g0130 a0001c0001t0005g0131 others(9): Show a0001c0001t0002g0182 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0005g0183 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0249	12	274	0.0438	-90	c.117 others(109): Show c.1171-2445_1171-2356delCAGCGTGGGGAGGAGCCGAGGTGATG GAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGAGCCG AGGTGATGGAGCAG		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LUZP2_chr11_24492053_25087638	25030905	AATATATA others(83): Show AATATATATTGTATTATATATATATAATATATATTATATATATTATATAT ATAATACAATATATATTATATATATATAATACAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	115	0.0087	-90	c.766 others(109): Show c.766-19132_766-19043delATATATATTGTATTATATATATATAA TATATATTATATATATTATATATATAATACAATATATATTATATATATAT AATACAATATATAT		LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11						chr11	TogoVar
LYPD8_chr1_248734415_248760759	248747351	GCACCCAC others(83): Show GCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCG CCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp2 others(15): Show HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG02109.hp1 HG02280.hp2 HG03486.hp2 NA18948.hp1 NA18952.hp2 NA18961.hp1 NA18961.hp2 NA18967.hp2 NA18986.hp1 NA18991.hp2 NA18992.hp2 NA19004.hp2 NA19079.hp1 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0004c0004t0002 a0001c0001t0001 a0001c0001t0002 a0004c0004t0002	a0001c0001t0001g0176 a0001c0001t0001g0205 a0001c0001t0002g0006 others(11): Show a0001c0001t0001g0176 a0001c0001t0001g0205 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0023 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0082 a0004c0004t0002g0041	18	339	0.0531	-90	c.337 others(105): Show c.337+848_337+937delGCCGTGCGGGCGATGCCCTGGGTGGGTGCT GGCCGTGCGGGCGATGCCCTGGGTGGGTGCTGGCCGTGCGGGGGATGCCC TGGGTGGGTG		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
LYPLA1_chr8_54041367_54106947	54085759	TAGGTGGG others(83): Show TAGGTGGGGGGGCAGCCCCCACCCCGGCCAGCCGCCCCGTCCGCGAGGTG GGGGGGGGGCAGCCCCCGGCCGGCCAGCCGCCCCGTCCGCG	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	304	0.0033	-90	c.101 others(109): Show c.101+15059_101+15148delCGCGGACGGGGCGGCTGGCCGGCCGG GGGCTGCCCCCCCCCCACCTCGCGGACGGGGCGGCTGGCCGGGGTGGGGG CTGCCCCCCCACCT		LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8						chr8	TogoVar
MAD1L1_chr7_1810795_2237945	1882907	ACCACAAA others(83): Show ACCACAAACGGCCCCAGGAACCAGCTCTTTAACACCAAACCTGGTGTCAC AAACGACTCCAGGAACCAGCTCCTTATCACCAAACCTCGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(181): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18963.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19081.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(11): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0013 a0002c0002 a0002c0005 a0002c0009 a0002c0012 a0003c0014 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0004t0001 a0001c0006t0001 a0001c0007t0004 a0001c0010t0001 a0001c0011t0001 a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0005t0001 a0002c0005t0002 a0002c0009t0001 a0002c0012t0001 a0003c0014t0001 a0004c0008t0001	a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0082 others(181): Show a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0055 a0001c0001t0002g0088 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0122 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0166 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0201 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0001t0007g0143 a0001c0001t0009g0247 a0001c0003t0001g0016 a0001c0003t0001g0033 a0001c0003t0001g0042 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0075 a0001c0003t0001g0089 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0002g0083 a0001c0003t0007g0145 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0004t0001g0205 a0001c0006t0001g0158 a0001c0006t0001g0218 a0001c0006t0001g0237 a0001c0007t0004g0078 a0001c0007t0004g0079 a0001c0007t0004g0080 a0001c0010t0001g0084 a0001c0011t0001g0244 a0001c0013t0001g0077 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0076 a0002c0002t0001g0176 a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0010g0264 a0002c0005t0001g0087 a0002c0005t0001g0090 a0002c0005t0001g0112 a0002c0005t0001g0120 a0002c0005t0001g0192 a0002c0005t0001g0197 a0002c0005t0001g0203 a0002c0005t0001g0213 a0002c0005t0001g0215 a0002c0005t0001g0240 a0002c0005t0002g0121 a0002c0009t0001g0096 a0002c0012t0001g0044 a0003c0014t0001g0067 a0004c0008t0001g0194	184	262	0.7023	-90	c.199 others(111): Show c.1998+15203_1998+15292delCACGAGGTTTGGTGATAAGGAGCT GGTTCCTGGAGTCGTTTGTGACACCAGGTTTGGTGTTAAAGAGCTGGTTC CTGGGGCCGTTTGTGG		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1882984	CACCAAAC others(83): Show CACCAAACCTCGTGCCACAAACGGCCCCAGGAACCAGCTCTTTAACACCA AACCTGGTGTCACAAACGACTCCAGGAACCAGCTCCTTATT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp1 HG02886.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0222 a0001c0001t0005g0136 a0001c0001t0005g0222	2	262	0.0076	-90	c.199 others(111): Show c.1998+15126_1998+15215delAATAAGGAGCTGGTTCCTGGAGTC GTTTGTGACACCAGGTTTGGTGTTAAAGAGCTGGTTCCTGGGGCCGTTTG TGGCACGAGGTTTGGT		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1996775	CAGAGCTG others(83): Show CAGAGCTGAGAGCGGCGTAATTCCCTCTGAATCGGAAAATAAAGCTTCAC TCCTCACTCCCCAAAGTCTATAAAATATTAGAGGATATTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(86): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04228.hp1 NA18612.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18963.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0006 others(6): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0002c0002 a0002c0005 a0002c0009 a0002c0012 a0004c0008	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(8): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0007t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0005t0001 a0002c0009t0001 a0002c0012t0001 a0004c0008t0001	a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0165 others(86): Show a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0248 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0003t0001g0016 a0001c0003t0001g0033 a0001c0003t0001g0042 a0001c0003t0001g0073 a0001c0003t0001g0089 a0001c0006t0001g0218 a0001c0007t0004g0079 a0001c0007t0004g0080 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0076 a0002c0002t0001g0176 a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0010g0264 a0002c0005t0001g0087 a0002c0005t0001g0104 a0002c0005t0001g0112 a0002c0005t0001g0120 a0002c0005t0001g0192 a0002c0005t0001g0197 a0002c0005t0001g0203 a0002c0005t0001g0215 a0002c0009t0001g0096 a0002c0012t0001g0044 a0004c0008t0001g0194	89	262	0.3397	-90	c.141 others(109): Show c.1416+5200_1416+5289delAAAATATCCTCTAATATTTTATAGAC TTTGGGGAGTGAGGAGTGAAGCTTTATTTTCCGATTCAGAGGGAATTACG CCGCTCTCAGCTCT		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18						chr7	TogoVar
MAN2B2_chr4_6570189_6628362	6579009	CCACCACC others(83): Show CCACCACCACCATCACCATCACCACTACCACCATCACCACCATCACCACC ACCATCACCATCACCACCACCACCACCATCACCATCACCAG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01517.hp2 HG02055.hp1 others(19): Show HG00738.hp2 HG01517.hp2 HG02055.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03486.hp1 HG03486.hp2 HG03942.hp1 NA18522.hp2 NA19063.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0006 a0007 a0010 a0014 a0017 a0028 a0029 a0034 a0037	a0001c0001 a0001c0003 a0002c0002 others(12): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0031 a0003c0007 a0006c0010 a0007c0006 a0010c0009 a0014c0053 a0017c0024 a0028c0045 a0029c0042 a0034c0046 a0037c0040	a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 others(15): Show a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0002c0004t0002 a0002c0004t0010 a0002c0031t0004 a0003c0007t0008 a0003c0007t0009 a0006c0010t0002 a0007c0006t0001 a0010c0009t0028 a0014c0053t0013 a0017c0024t0007 a0028c0045t0002 a0029c0042t0006 a0034c0046t0016 a0037c0040t0014	a0001c0001t0001g0062 a0001c0001t0001g0122 a0001c0003t0002g0059 others(17): Show a0001c0001t0001g0062 a0001c0001t0001g0122 a0001c0003t0002g0059 a0002c0002t0001g0069 a0002c0002t0002g0068 a0002c0004t0002g0061 a0002c0004t0010g0044 a0002c0031t0004g0066 a0003c0007t0008g0047 a0003c0007t0009g0007 a0003c0007t0009g0048 a0006c0010t0002g0011 a0007c0006t0001g0063 a0010c0009t0028g0067 a0014c0053t0013g0046 a0017c0024t0007g0064 a0028c0045t0002g0065 a0029c0042t0006g0060 a0034c0046t0016g0123 a0037c0040t0014g0045	22	358	0.0615	-90	c.391 others(105): Show c.391+544_391+633delTCACCACCATCACCACCACCATCACCATCA CCACCACCACCACCATCACCATCACCAGCACCACCACCATCACCATCACC ACTACCACCA		MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579124	TACCACCA others(83): Show TACCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCA CCACCATCACCATCACCAGCACCACCACCATCACCATCACC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0002 a0013c0019t0002	a0013c0019t0002g0129 a0013c0019t0002g0129	1	188	0.0053	-90	c.391 others(105): Show c.391+655_391+744delTCACCATCACCACCACCACCACCACCATCA CCATCACCAGCACCACCACCATCACCATCACCACCACCACCACCACCATC ACCACCACCA		MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP2K5_chr15_67537703_67812114	67609495	ATAGATTC others(83): Show ATAGATTCTGTAGACCTATTCTATAGGTCTGTAGATTCTGTAGACCTATT CTATAGGTCTGTAGATTCTGTAGACCTATTCTATAGGTCTG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02602.hp1 HG02723.hp2 others(2): Show HG00741.hp2 HG02602.hp1 HG02723.hp2 NA18989.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0068 a0001c0001t0003g0022 a0001c0001t0003g0044 others(2): Show a0001c0001t0001g0068 a0001c0001t0003g0022 a0001c0001t0003g0044 a0001c0001t0003g0067 a0001c0001t0004g0255	5	96	0.0521	-90	c.545 others(107): Show c.545+8866_545+8955delGTAGATTCTGTAGACCTATTCTATAGGT CTGTAGATTCTGTAGACCTATTCTATAGGTCTGTAGATTCTGTAGACCTA TTCTATAGGTCT		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	8/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K7_chr19_7898877_7919478	7910782	TCTGGGCA others(83): Show TCTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGG GCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG03704.hp2 HG01109.hp1 HG03704.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0010 a0002c0008t0010	a0002c0008t0010g0076 a0002c0008t0010g0077 a0002c0008t0010g0076 a0002c0008t0010g0077	2	432	0.0046	-90	c.675 others(102): Show c.675+8_676-80delACCAGGCGGGGCTTGCACTGGGCAGGATGACAG AGGCGGTGAGTGACCAGGCGGGGCGTGCACTGGGCAAGATGACAGTGGCG GTGAGTG		MAP2K7	ENSG00000076984.18	transcript	ENST00000397979.4	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
MAP3K13_chr3_185358136_185494094	185455407	TATATGAG others(83): Show TATATGAGATATATATGATATATATGAGATATATATATGAGATATATATC ATATATATGAGATATATACATGATATATATGAGATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	276	0.0036	-90	c.127 others(109): Show c.1278+4015_1278+4104delATGAGATATATATGATATATATGAGA TATATATATGAGATATATATCATATATATGAGATATATACATGATATATA TGAGATATATACAT		MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
MAPK10_chr4_86005405_86365053	86084667	ATACTACC others(83): Show ATACTACCCAAAGCAATCTACAGATTCAATGCAGTCCCTATCAAAATACG AATGGTGTTCTTCACAGATAGAAAACACAATCCTGAAGTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG02630.hp2 others(8): Show HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 others(5): Show a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0006t0049	a0001c0001t0014g0159 a0001c0001t0017g0007 a0001c0001t0017g0009 others(8): Show a0001c0001t0014g0159 a0001c0001t0017g0007 a0001c0001t0017g0009 a0001c0001t0017g0157 a0001c0001t0021g0014 a0001c0001t0021g0102 a0001c0001t0047g0013 a0001c0001t0048g0074 a0001c0001t0050g0048 a0001c0001t0051g0170 a0001c0006t0049g0071	11	168	0.0655	-90	c.802 others(109): Show c.802+13767_802+13856delAAACTTCAGGATTGTGTTTTCTATCT GTGAAGAACACCATTCGTATTTTGATAGGGACTGCATTGAATCTGTAGAT TGCTTTGGGTAGTA		MAPK10	ENSG00000109339.24	transcript	ENST00000641462.2	protein_coding	9/13						chr4	TogoVar
MAPK11_chr22_50258713_50275380	50273826	TGCCTTCT others(83): Show TGCCTTCTAGATAGCAGTAGTAAATTAGTGACAATACTAATAGTCCCTGA TATGCAGAAATAATGGCGTAAGCTGTCTTTCTCTCTGTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0046 a0001c0001t0009g0046	1	426	0.0023	-90	c.-36 others(101): Show c.-3624_-3535delGAGACAGAGAGAAAGACAGCTTACGCCATTATTT CTGCATATCAGGGACTATTAGTATTGTCACTAATTTACTACTGCTATCTA GAAGGC		MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding					3447		chr22	TogoVar
MAPK1_chr22_21754657_21872645	21814739	GAGAATTG others(83): Show GAGAATTGCTTGAATCCGGGAAGCAAAGGTTGAGTGAGCTGAGATCACGC CACTGTACTCCAGCTCTGGGCGACACTGCAAGACTCCATCT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	346	0.0029	-90	c.120 others(107): Show c.120-6983_120-6894delAGATGGAGTCTTGCAGTGTCGCCCAGAG CTGGAGTACAGTGGCGTGATCTCAGCTCACTCAACCTTTGCTTCCCGGAT TCAAGCAATTCT		MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	1/8						chr22	TogoVar
MAPK9_chr5_180228143_180297083	180296765	ACACACAC others(83): Show ACACACACACAAGGAAGTACAACACACACGTAAGAAAGTACACACACGGA AGTACTTACCCCCCCCCCCACACACACACGGAAGTACTTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	370	0.0027	-90	c.-50 others(101): Show c.-5055_-4966delGTAAGTACTTCCGTGTGTGTGTGGGGGGGGGGGT AAGTACTTCCGTGTGTGTACTTTCTTACGTGTGTGTTGTACTTCCTTGTG TGTGTG		MAPK9	ENSG00000050748.18	transcript	ENST00000452135.7	protein_coding					4683		chr5	TogoVar
MAPK9_chr5_180228143_180297083	180296865	ACACACAC others(83): Show ACACACACACACACACAAGGAAGTACAACACACACGTAAGGAAGTACACA CACGGAAGTACCCCCCCACACACACACACGGAAGTACTTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01074.hp2 HG01175.hp2 others(28): Show HG00408.hp2 HG01074.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp2 HG01934.hp1 HG01978.hp2 HG01993.hp1 HG02109.hp1 HG02145.hp2 HG02148.hp1 HG02300.hp2 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02895.hp1 HG02976.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp2 NA18906.hp2 NA19030.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0022 a0001c0001t0031 a0001c0001t0034 a0001c0001t0045 a0001c0002t0012	a0001c0001t0001g0139 a0001c0001t0002g0086 a0001c0001t0003g0098 others(23): Show a0001c0001t0001g0139 a0001c0001t0002g0086 a0001c0001t0003g0098 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0329 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0009g0002 a0001c0001t0009g0017 a0001c0001t0009g0018 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0234 a0001c0001t0009g0266 a0001c0001t0011g0218 a0001c0001t0014g0307 a0001c0001t0014g0308 a0001c0001t0014g0311 a0001c0001t0016g0045 a0001c0001t0022g0341 a0001c0001t0022g0343 a0001c0001t0031g0117 a0001c0001t0034g0233 a0001c0001t0045g0344 a0001c0002t0012g0245	31	370	0.0838	-90	c.-51 others(101): Show c.-5155_-5066delGTAAGTACTTCCGTGTGTGTGTGTGGGGGGGTAC TTCCGTGTGTGTACTTCCTTACGTGTGTGTTGTACTTCCTTGTGTGTGTG TGTGTG		MAPK9	ENSG00000050748.18	transcript	ENST00000452135.7	protein_coding					4783		chr5	TogoVar
MARCO_chr2_118937194_118999660	118986629	GAAAGAAA others(83): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	392	0.0026	-90	c.106 others(109): Show c.1064-3958_1064-3869delAAGAAAGAAAGAAAGAAAGAAAGAAG GAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA		MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
MARK2_chr11_63834110_63916020	63871506	GGTGTGGC others(83): Show GGTGTGGCTGAAGAGTATTCACTGTGTGCAGGTGTGGGTGAAGAGTATTC ACTGTGTGCAGGTGTGGGTGAAGAGTATTCACTGTGTGCAC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp1 HG03453.hp1 HG02723.hp1 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0085 a0001c0001t0009g0086 a0001c0001t0009g0088 a0001c0001t0009g0085 a0001c0001t0009g0086 a0001c0001t0009g0088	3	232	0.0129	-90	c.55- others(107): Show c.55-23563_55-23474delCGTGTGGCTGAAGAGTATTCACTGTGTG CAGGTGTGGGTGAAGAGTATTCACTGTGTGCAGGTGTGGGTGAAGAGTAT TCACTGTGTGCA		MARK2	ENSG00000072518.23	transcript	ENST00000402010.8	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
MARK2_chr11_63834110_63916020	63871618	TGTGTGCA others(83): Show TGTGTGCAGGTGTGGGTGAAGAGTATTCACTGTGTGCAGGTGTGGGTGAA GAGTATTCACTGTGTGCAGGTGTGGGTGAAGAGTATTCACA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG01123.hp2 others(4): Show HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01256.hp2 HG01258.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0022 a0001c0001t0004 a0001c0001t0022	a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0070 others(4): Show a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0070 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0022g0211	7	232	0.0302	-90	c.55- others(107): Show c.55-23361_55-23272delAGTGTGCAGGTGTGGGTGAAGAGTATTC ACTGTGTGCAGGTGTGGGTGAAGAGTATTCACTGTGTGCAGGTGTGGGTG AAGAGTATTCAC		MARK2	ENSG00000072518.23	transcript	ENST00000402010.8	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
MBD3L2B_chr19_7013969_7026431	7017607	TCTCCAGC others(83): Show TCTCCAGCTTTTGTAAAACCATCTATTTTCCGCCTTAAATTTTGTTCATC TTTACTTCTTATATTTCTGGTCTCCATGGTTTCGTGAGTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	350	0.0029	-90	c.14 others(101): Show c.1464_*1553delGTACTCACGAAACCATGGAGACCAGAAATATAAG AAGTAAAGATGAACAAAATTTAAGGCGGAAAATAGATGGTTTTACAAAAG CTGGAG		MBD3L2B	ENSG00000196589.8	transcript	ENST00000636986.2	protein_coding					1361		chr19	TogoVar
MBOAT4_chr8_30126671_30149665	30141576	TGCAGTGA others(83): Show TGCAGTGAGCTGAGATCGCACTGCTGCATTCCAGCCTGGGTGACAGAGAG AGACTCTGTTTCAAAAAGAAAAGAAAAGAAAGAAAAGAAAA	T T	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0036 a0006c0008t0002g0036	1	378	0.0026	-90	c.119 others(107): Show c.119+2817_120-2821delTTTTCTTTTCTTTCTTTTCTTTTCTTTT TGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAATGCAGCAGTGCGATC TCAGCTCACTGC		MBOAT4	ENSG00000177669.4	transcript	ENST00000320542.4	protein_coding	1/2						chr8	TogoVar
MECOM_chr3_169078507_169668712	169472490	AAGGAAAG others(83): Show AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGAAAAGAAAAGAAAAGGA AAGGAAAGGAAAAGAAAAGAGAGGAGAGGAGAGGAGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01516.hp2 HG03017.hp1 others(7): Show HG01361.hp1 HG01516.hp2 HG03017.hp1 HG03209.hp1 HG03831.hp2 HG04204.hp1 NA18960.hp2 NA18968.hp2 NA19011.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0003t0032 a0001c0003t0036 a0002c0002t0001	a0001c0001t0001g0116 a0001c0001t0001g0138 a0001c0001t0006g0097 others(7): Show a0001c0001t0001g0116 a0001c0001t0001g0138 a0001c0001t0006g0097 a0001c0001t0007g0084 a0001c0001t0009g0114 a0001c0001t0011g0062 a0001c0001t0019g0153 a0001c0003t0032g0139 a0001c0003t0036g0155 a0002c0002t0001g0128	10	160	0.0625	-90	c.38- others(107): Show c.38-91056_38-90967delCTCCTCTCCTCTCCTCTCCTCTCTTTTC TTTTCCTTTCCTTTCCTTTTCTTTTCTTTTCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169472523	AAAAGAAA others(83): Show AAAAGAAAAGAAAAGGAAAGGAAAGGAAAAGAAAAGAGAGGAGAGGAGAG GAGAGGAGAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02056.hp2 HG02080.hp1 others(13): Show HG00741.hp1 HG02056.hp2 HG02080.hp1 HG02559.hp2 HG02723.hp1 HG03098.hp1 HG03225.hp1 HG04228.hp2 NA18951.hp1 NA18952.hp2 NA18960.hp1 NA18975.hp1 NA18988.hp1 NA19002.hp1 NA19007.hp2 NA19011.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0010 a0006c0015	a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 others(13): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0037 a0001c0003t0002 a0001c0003t0007 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0017 a0002c0002t0035 a0002c0010t0003 a0006c0015t0020	a0001c0001t0005g0043 a0001c0001t0008g0092 a0001c0001t0011g0060 others(13): Show a0001c0001t0005g0043 a0001c0001t0008g0092 a0001c0001t0011g0060 a0001c0001t0012g0009 a0001c0001t0037g0156 a0001c0003t0002g0032 a0001c0003t0007g0078 a0002c0002t0001g0126 a0002c0002t0003g0068 a0002c0002t0004g0022 a0002c0002t0005g0046 a0002c0002t0007g0076 a0002c0002t0017g0006 a0002c0002t0035g0154 a0002c0010t0003g0070 a0006c0015t0020g0001	16	158	0.1013	-90	c.38- others(107): Show c.38-91089_38-91000delCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTCTCCTCTCCTCTCCTCTCCTCTCTTTTCTTTTCCTTTCCTTTCCT TTTCTTTTCTTT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MED12L_chr3_151080664_151441653	151368614	TATTTTAT others(83): Show TATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTT CATTTCATTTCATGTCATTTCATTTTATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA21309.hp1 HG02280.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0023 a0001c0002 a0001c0023	a0001c0002t0002 a0001c0023t0002 a0001c0002t0002 a0001c0023t0002	a0001c0002t0002g0112 a0001c0023t0002g0027 a0001c0002t0002g0112 a0001c0023t0002g0027	2	269	0.0074	-90	c.355 others(107): Show c.3550+368_3550+457delTATTTTATTTTATTTCATTTCATTTCAT TTCATTTCATTTCATTTCATTTCATTTCATGTCATTTCATTTTATTTCAT TTCATTTCATTT		MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44					INFO_REALIGN_3_PRIME	chr3	TogoVar
MEF2A_chr15_99560984_99721488	99602665	TGTGTGTG others(83): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGGGGTGGGGAGCTT TTTGTGTGTGTGTGTGGGGGGGTGGGGGTGGGGAGCTTTTC	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0318 a0003c0003t0002g0318	1	373	0.0027	-90	c.-14 others(109): Show c.-143+4189_-143+4278delAGGGGTGGGGAGCTTTTTGTGTGTGT GTGTGGGGGGGTGGGGGTGGGGAGCTTTTCGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT		MEF2A	ENSG00000068305.19	transcript	ENST00000557942.6	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
MEGF6_chr1_3482951_3616508	3583342	GCAGCCAC others(83): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0082 a0082	a0082c0063 a0082c0063	a0082c0063t0058 a0082c0063t0058	a0082c0063t0058g0273 a0082c0063t0058g0273	1	193	0.0052	-90	c.377 others(107): Show c.377-3503_377-3414delTGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3588236	GCAGGAGG others(83): Show GCAGGAGGGGGCAGGAGTGGCCAGGAGGGGGCAGAAGGGGACAGGAGGGG GCAGGAGGGGACAGGAGGGGGCAGGAGGGGGCAGGAGTGGC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0050 a0050	a0050c0076 a0050c0076	a0050c0076t0013 a0050c0076t0013	a0050c0076t0013g0250 a0050c0076t0013g0250	1	281	0.0036	-90	c.376 others(107): Show c.376+7012_376+7101delGCCACTCCTGCCCCCTCCTGCCCCCTCC TGTCCCCTCCTGCCCCCTCCTGTCCCCTTCTGCCCCCTCCTGGCCACTCC TGCCCCCTCCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MGAT4C_chr12_85950667_86261391	86069101	GTGAGTCC others(83): Show GTGAGTCCTTTATTCTGGGAAGGTGTCATTTTTTTCTGGAATTTGGTCAT GTCATTTTGTACCTTCAGTTTTCGGAGTTAAAAATAATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01515.hp2 HG01517.hp2 HG00741.hp1 HG01515.hp2 HG01517.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0031 a0002c0003t0032 a0002c0003t0033 a0002c0003t0031 a0002c0003t0032 a0002c0003t0033	a0002c0003t0031g0006 a0002c0003t0032g0010 a0002c0003t0033g0007 a0002c0003t0031g0006 a0002c0003t0032g0010 a0002c0003t0033g0007	3	186	0.0161	-90	c.-56 others(109): Show c.-56-19468_-56-19379delTATATTATTTTTAACTCCGAAAACTG AAGGTACAAAATGACATGACCAAATTCCAGAAAAAAATGACACCTTCCCA GAATAAAGGACTCA		MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4						chr12	TogoVar
MICAL3_chr22_17782649_18029561	17876946	TGGAGGTT others(83): Show TGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAG GTGAGGGAGGTTATGGAGGTTATGGAGGTTATGGAGGTTAG	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0013 a0001c0041t0013	a0001c0041t0013g0236 a0001c0041t0013g0236	1	175	0.0057	-90	c.224 others(109): Show c.2242-5012_2242-4923delTAACCTCCATAACCTCCATAACCTCC ATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCATAACCTCCA		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877374	GTGAGGGA others(83): Show GTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAG GGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0024 a0001c0024t0002g0024	1	272	0.0037	-90	c.224 others(109): Show c.2242-5441_2242-5352delTCTCCCTAACCTCCATAACCTCCCTC ACCTCCATAATCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTC CATAACCTCCCTCA		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MINAR1_chr15_79427336_79477304	79437970	TAGTGAGT others(83): Show TAGTGAGTGGGGTGTGGATGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGT GTGGGAGGGTAGTGTGTGGGGTGTGGATGGGGTGGGTAGTG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01243.hp1 others(32): Show HG01167.hp2 HG01169.hp2 HG01243.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03704.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0006 a0001c0007 others(6): Show a0001c0001 a0001c0006 a0001c0007 a0001c0014 a0001c0026 a0002c0003 a0003c0005 a0004c0009 a0008c0015	a0001c0001t0001 a0001c0006t0008 a0001c0006t0010 others(11): Show a0001c0001t0001 a0001c0006t0008 a0001c0006t0010 a0001c0007t0007 a0001c0014t0001 a0001c0026t0007 a0002c0003t0003 a0002c0003t0039 a0003c0005t0003 a0003c0005t0011 a0004c0009t0005 a0004c0009t0045 a0008c0015t0003 a0008c0015t0017	a0001c0001t0001g0043 a0001c0001t0001g0142 a0001c0001t0001g0305 others(27): Show a0001c0001t0001g0043 a0001c0001t0001g0142 a0001c0001t0001g0305 a0001c0006t0008g0139 a0001c0006t0010g0141 a0001c0007t0007g0044 a0001c0007t0007g0178 a0001c0014t0001g0170 a0001c0026t0007g0310 a0002c0003t0003g0074 a0002c0003t0003g0077 a0002c0003t0003g0140 a0002c0003t0003g0143 a0002c0003t0003g0171 a0002c0003t0003g0302 a0002c0003t0039g0073 a0003c0005t0003g0024 a0003c0005t0003g0076 a0003c0005t0003g0082 a0003c0005t0003g0138 a0003c0005t0003g0301 a0003c0005t0003g0303 a0003c0005t0003g0304 a0003c0005t0003g0306 a0003c0005t0011g0011 a0004c0009t0005g0075 a0004c0009t0005g0176 a0004c0009t0045g0177 a0008c0015t0003g0045 a0008c0015t0017g0045	35	332	0.1054	-90	c.-51 others(107): Show c.-51+5435_-51+5524delAGTGGGGTGTGGATGGGGTGGGTAGTGA GTGTGTGGGGTGTGGGTGTGGGAGGGTAGTGTGTGGGGTGTGGATGGGGT GGGTAGTGAGTG		MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr15	TogoVar
MPPED1_chr22_43407014_43512848	43432628	GGAGAGAG others(83): Show GGAGAGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAGGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02258.hp1 HG03225.hp2 HG01496.hp2 HG02258.hp1 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0011 a0001c0009t0002 a0001c0003t0011 a0001c0009t0002	a0001c0003t0011g0198 a0001c0003t0011g0239 a0001c0009t0002g0223 a0001c0003t0011g0198 a0001c0003t0011g0239 a0001c0009t0002g0223	3	248	0.0121	-90	c.225 others(107): Show c.225-2395_225-2306delGAGAGGGAAAGAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAGGGGAG GAGAGAGAGAGA		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43495796	GATGGAGG others(83): Show GATGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGG AGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG06807.hp1 HG02055.hp2 HG02572.hp2 HG06807.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0199 a0001c0007t0002g0204 a0001c0007t0002g0207 a0001c0007t0002g0199 a0001c0007t0002g0204 a0001c0007t0002g0207	3	248	0.0121	-90	c.633 others(107): Show c.633-2438_633-2349delATGGAGGTGGTGGTGGTGGAGGTGGTGG TGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGGTG GTGGTGGAGGTA		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6						chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496833	AGGTGGTG others(83): Show AGGTGGTGGTGGTGGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTG GTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02723.hp1 HG01496.hp2 HG02723.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0206 a0001c0009t0002g0223 a0001c0009t0002g0206 a0001c0009t0002g0223	2	203	0.0099	-90	c.633 others(107): Show c.633-1390_633-1301delTGGTAGTGGTGGTGGAGGTAGTGGTGGT GGAGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGG TGGTGGTGGTGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MTNR1A_chr4_186528655_186560567	186547029	CACACCAC others(83): Show CACACCACACCCTGTTCGTGGGACACACCGTCCACACCACACCCTGTTCG TGGGACACACCGTCCTCACACCCTGTTCCTGGGACACACCG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0063 a0001c0003t0001g0063	1	393	0.0025	-90	c.184 others(107): Show c.184+8063_184+8152delCGGTGTGTCCCAGGAACAGGGTGTGAGG ACGGTGTGTCCCACGAACAGGGTGTGGTGTGGACGGTGTGTCCCACGAAC AGGGTGTGGTGT		MTNR1A	ENSG00000168412.7	transcript	ENST00000307161.5	protein_coding	1/1						chr4	TogoVar
MUC21_chr6_30978718_30994903	30986547	GTCCAGCA others(83): Show GTCCAGCACACCCTCCAGTGGGGCCAGCACAGCCACCAACTCTGACTCCA GCACAACCTCCAGTGGGGCTAGCACAGCCACCAACTCTGAC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01168.hp2 HG02148.hp2 HG02273.hp2 others(2): Show HG01168.hp2 HG02148.hp2 HG02273.hp2 NA18939.hp2 NA20129.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0007 a0007c0012t0007	a0007c0012t0007g0007 a0007c0012t0007g0007	5	448	0.0112	-90	c.382 others(97): Show c.382_471delCCCTCCAGTGGGGCCAGCACAGCCACCAACTCTGACTC CAGCACAACCTCCAGTGGGGCTAGCACAGCCACCAACTCTGACTCCAGCA CA	p.Pro others(13): Show p.Pro128_Thr157del	MUC21	ENSG00000204544.5	transcript	ENST00000376296.3	protein_coding	2/3	623/3651	382/1701	128/566		INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC21_chr6_30978718_30994903	30987342	AGCCACCA others(83): Show AGCCACCACCTCTGAGTCCAGCACGACCTCCAGTGGGGCCAGCACAGCCA CCAACTCTGAGTCCAGCACAGTGTCCAGTGGGGCCAGCACT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01168.hp2 HG02148.hp2 HG02273.hp2 others(2): Show HG01168.hp2 HG02148.hp2 HG02273.hp2 NA18939.hp2 NA20129.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0007 a0007c0012t0007	a0007c0012t0007g0007 a0007c0012t0007g0007	5	448	0.0112	-90	c.117 others(99): Show c.1175_1264delCCTCTGAGTCCAGCACGACCTCCAGTGGGGCCAGCA CAGCCACCAACTCTGAGTCCAGCACAGTGTCCAGTGGGGCCAGCACTGCC ACCA	p.Thr others(13): Show p.Thr392_Thr421del	MUC21	ENSG00000204544.5	transcript	ENST00000376296.3	protein_coding	2/3	1416/3651	1175/1701	392/566		INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC4_chr3_195741771_195816929	195772380	TCATCGCT others(83): Show TCATCGCTCAGGGGTGTAGACACCCTCCCTTCATCGCTCAGGGGTGTAGA CACCCTCCCTCCATCGCTCAGGGGTGTAGACACCCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0001 a0001c0071t0001	a0001c0071t0001g0030 a0001c0071t0001g0030	1	248	0.0040	-90	c.130 others(109): Show c.13078-654_13078-565delGAGAGAGGGTGTCTACACCCCTGAGC GATGGAGGGAGGGTGTCTACACCCCTGAGCGATGAAGGGAGGGTGTCTAC ACCCCTGAGCGATG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	4/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195775591	CATACCTT others(83): Show CATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATAC CTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCG	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	248	0.0040	-90	c.129 others(111): Show c.12944-1376_12944-1287delCGGTGTGGAAGGTATGGGTGTGGA AGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTA TGGGTGTGGAAGGTAT		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195775620	TCATACCT others(83): Show TCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATA CCTTCCACACCGATACCTTCCACACCCATACCTTCCACACC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0082 a0082	a0082c0112 a0082c0112	a0082c0112t0001 a0082c0112t0001	a0082c0112t0001g0019 a0082c0112t0001g0019	1	208	0.0048	-90	c.129 others(111): Show c.12944-1405_12944-1316delGGTGTGGAAGGTATGGGTGTGGAA GGTATCGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTAT GGGTGTGGAAGGTATG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195775634	CCCATACC others(83): Show CCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCGAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01255.hp1 HG03491.hp1 others(1): Show HG00280.hp1 HG01255.hp1 HG03491.hp1 NA19090.hp1	a0001 a0009 a0039 a0001 a0009 a0039	a0001c0003 a0001c0074 a0009c0098 others(1): Show a0001c0003 a0001c0074 a0009c0098 a0039c0092	a0001c0003t0001 a0001c0074t0001 a0009c0098t0001 others(1): Show a0001c0003t0001 a0001c0074t0001 a0009c0098t0001 a0039c0092t0001	a0001c0003t0001g0133 a0001c0074t0001g0023 a0009c0098t0001g0013 others(1): Show a0001c0003t0001g0133 a0001c0074t0001g0023 a0009c0098t0001g0013 a0039c0092t0001g0177	4	230	0.0174	-90	c.129 others(111): Show c.12944-1419_12944-1330delATGTGGAAGGTATGGGTGTGGAAG GTATGGGTGTGGAAGGTATCGGTGTGGAAGGTATGGGTGTGGAAGGTATG ACTGTGGAAGGTATGG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195775740	CCTTACCT others(83): Show CCTTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTTA CCTTCCACACCCATACCTTCCACGGCCATACCTTCCACGGT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0085 a0085	a0085c0095 a0085c0095	a0085c0095t0001 a0085c0095t0001	a0085c0095t0001g0139 a0085c0095t0001g0139	1	174	0.0057	-90	c.129 others(111): Show c.12944-1525_12944-1436delACCGTGGAAGGTATGGCCGTGGAA GGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTAAG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195775769	CCCATACC others(83): Show CCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACGGCCAT ACCTTCCACGGTCATACCTTCCACACCCATACCTTCCACGG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA20300.hp1 HG00609.hp2 NA20300.hp1	a0031 a0119 a0031 a0119	a0031c0063 a0119c0135 a0031c0063 a0119c0135	a0031c0063t0001 a0119c0135t0013 a0031c0063t0001 a0119c0135t0013	a0031c0063t0001g0200 a0119c0135t0013g0183 a0031c0063t0001g0200 a0119c0135t0013g0183	2	237	0.0084	-90	c.129 others(111): Show c.12944-1554_12944-1465delCCGTGGAAGGTATGGGTGTGGAAG GTATGACCGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTAAG GGTGTGGAAGGTATGG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar

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