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
MAP2K1_chr15_66381912_66496544	66420721	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	263	0.0038	46	c.81- others(63): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT ATATATATGTATATATGT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66469693	G G	GACACACA others(39): Show GACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18747.hp2 NA18968.hp1 others(1): Show HG02818.hp2 NA18747.hp2 NA18968.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0220 a0001c0001t0001g0225 others(1): Show a0001c0001t0001g0140 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0228	4	192	0.0208	46	c.569 others(65): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACACACACACACACACA	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66469723	C C	CACACACA others(39): Show CACACACACACACACACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18962.hp2 NA18979.hp2 others(2): Show HG03942.hp2 NA18962.hp2 NA18979.hp2 NA19009.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0076 a0001c0001t0002g0093 others(2): Show a0001c0001t0002g0054 a0001c0001t0002g0076 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0151	5	256	0.0195	46	c.569 others(65): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACACACACACACACATA	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67575918	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp2 HG03139.hp1 HG01884.hp1 HG02809.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0002t0002g0147 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0002t0002g0147	3	192	0.0156	46	c.253 others(63): Show c.253-4835_253-4834insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP3K5_chr6_136552046_136797477	136737041	A A	ATATATAT others(39): Show ATATATATATATATATGTGTGTGTATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03209.hp1 HG02965.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0001 a0001c0006t0001 a0001c0004t0001 a0001c0006t0001	a0001c0004t0001g0003 a0001c0006t0001g0083 a0001c0004t0001g0003 a0001c0006t0001g0083	2	157	0.0127	46	c.449 others(65): Show c.449-16453_449-16452insCACACATATATATATATATATATACA CACACATATATATATATATA	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	1/29			chr6	TogoVar
MAP4K4_chr2_101692707_101899690	101797889	G G	GTTTTTTT others(39): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	10	0.1000	46	c.180 others(63): Show c.180+7134_180+7135insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP6_chr11_75581918_75674038	75663394	A A	ATTTTCTG others(39): Show ATTTTCTGAAAAAAATTCAACTAAATGAAATTGACTCTATCAATATG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	388	0.0026	46	c.905 others(63): Show c.905+4025_905+4070dupCATATTGATAGAGTCAATTTCATTTAGT TGAATTTTTTTCAGAAAA	MAP6	ENSG00000171533.12	transcript	ENST00000304771.8	protein_coding	1/3			chr11	TogoVar
MAPK10_chr4_86005405_86365053	86138984	A A	AGAGTCAG others(39): Show AGAGTCAGAAGCTTATGTTGTTTATGCGGGGAAACGCCATATCGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00621.hp2 others(41): Show HG00140.hp2 HG00323.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01346.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG02109.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG04199.hp1 HG04199.hp2 NA18939.hp1 NA18949.hp1 NA18962.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18994.hp2 NA19000.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19066.hp1 NA19070.hp1 NA19084.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0046 a0001c0003t0005	a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0032 others(41): Show a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0002g0027 a0001c0001t0003g0141 a0001c0001t0004g0126 a0001c0001t0011g0022 a0001c0001t0011g0028 a0001c0001t0011g0142 a0001c0001t0022g0001 a0001c0001t0023g0002 a0001c0001t0031g0049 a0001c0001t0034g0054 a0001c0001t0037g0111 a0001c0001t0038g0112 a0001c0001t0046g0040 a0001c0003t0005g0047 a0001c0003t0005g0056	44	168	0.2619	46	c.236 others(65): Show c.236+20313_236+20314insCCCCGATATGGCGTTTCCCCGCATAA ACAACATAAGCTTCTGACTC	MAPK10	ENSG00000109339.24	transcript	ENST00000641462.2	protein_coding	4/13			chr4	TogoVar
MAPKAP1_chr9_125432394_125712208	125693721	G G	GTATATAT others(39): Show GTATATATACACACGTATATATACACGTATACACACACATATACACA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02109.hp2 HG02451.hp1 others(17): Show HG01069.hp2 HG02109.hp2 HG02451.hp1 HG02559.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA18906.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(17): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122	20	238	0.0840	46	c.-70 others(65): Show c.-70+13249_-70+13250insTGTGTATATGTGTGTGTATACGTGTA TATATACGTGTGTATATATA	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	1/11			chr9	TogoVar
MAPKAPK5_chr12_111837228_111907222	111877130	T T	TCCTCAGC others(39): Show TCCTCAGCCTCCCGAGTAGCTGGGATTAAAGGCATGTGCCACCACGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG00733.hp1 others(93): Show HG00099.hp2 HG00597.hp2 HG00733.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp2 HG04115.hp1 NA18522.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18987.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA19000.hp1 NA19009.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(35): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0004t0006	a0001c0001t0005g0003 a0001c0001t0005g0007 a0001c0001t0005g0139 others(84): Show a0001c0001t0005g0003 a0001c0001t0005g0007 a0001c0001t0005g0139 a0001c0001t0005g0152 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0159 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0165 a0001c0001t0005g0176 a0001c0001t0005g0178 a0001c0001t0005g0180 a0001c0001t0005g0223 a0001c0001t0006g0025 a0001c0001t0006g0177 a0001c0001t0006g0179 a0001c0001t0006g0189 a0001c0001t0006g0222 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0008g0184 a0001c0001t0008g0185 a0001c0001t0008g0187 a0001c0001t0008g0205 a0001c0001t0008g0206 a0001c0001t0009g0003 a0001c0001t0009g0158 a0001c0001t0009g0162 a0001c0001t0009g0168 a0001c0001t0009g0169 a0001c0001t0009g0170 a0001c0001t0009g0175 a0001c0001t0009g0182 a0001c0001t0011g0026 a0001c0001t0011g0149 a0001c0001t0011g0217 a0001c0001t0011g0218 a0001c0001t0011g0219 a0001c0001t0011g0220 a0001c0001t0011g0221 a0001c0001t0012g0024 a0001c0001t0012g0163 a0001c0001t0012g0190 a0001c0001t0012g0194 a0001c0001t0012g0199 a0001c0001t0019g0007 a0001c0001t0020g0212 a0001c0001t0020g0215 a0001c0001t0020g0216 a0001c0001t0021g0208 a0001c0001t0021g0209 a0001c0001t0021g0211 a0001c0001t0024g0023 a0001c0001t0025g0151 a0001c0001t0025g0167 a0001c0001t0026g0021 a0001c0001t0026g0171 a0001c0001t0027g0153 a0001c0001t0027g0202 a0001c0001t0043g0192 a0001c0001t0044g0183 a0001c0001t0045g0204 a0001c0001t0046g0198 a0001c0001t0047g0172 a0001c0001t0048g0164 a0001c0001t0049g0156 a0001c0001t0050g0157 a0001c0001t0052g0173 a0001c0001t0053g0166 a0001c0001t0054g0186 a0001c0001t0055g0026 a0001c0001t0056g0207 a0001c0001t0057g0197 a0001c0001t0058g0188 a0001c0001t0059g0210 a0001c0001t0060g0191 a0001c0001t0061g0214 a0001c0001t0062g0213 a0001c0001t0063g0150 a0001c0001t0064g0174 a0001c0001t0065g0201 a0001c0001t0066g0200 a0001c0001t0067g0203 a0001c0004t0006g0193 a0001c0004t0006g0195 a0001c0004t0006g0196	96	350	0.2743	46	c.580 others(63): Show c.580-3314_580-3269dupTCAGCCTCCCGAGTAGCTGGGATTAAAG GCATGTGCCACCACGCCC	MAPKAPK5	ENSG00000089022.15	transcript	ENST00000550735.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
MAPT_chr17_45889554_46033334	45903921	A A	ATATATTA others(39): Show ATATATTATATATTTATATATATTATATATTTATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	208	0.0048	46	c.-18 others(63): Show c.-18+9240_-18+9241insTATATATTTATATATATTATATATTTAT ATATAATATATATTATAT	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45904006	A A	ATATATAT others(39): Show ATATATATTATATATTATATATTTATATATTATATATTTATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	248	0.0040	46	c.-18 others(63): Show c.-18+9365_-18+9410dupATTATATATTATATATTATATATTTATA TATTATATATTTATATAT	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARS1_chr12_57483068_57521652	57493872	A A	ATATATTA others(39): Show ATATATTATATTATATAATATATAATATATAATATATATATTTATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0163 a0006c0008t0001g0163	1	120	0.0083	46	c.770 others(63): Show c.770+3233_770+3234insTATATTATATAATATATAATATATAATA TATATATTTATATTATAT	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MBNL1_chr3_152263929_152470780	152286389	T T	TATTTATA others(39): Show TATTTATAATATAAATATTTATATTTTATTTATAATATAAATATTTA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	336	0.0030	46	c.-78 others(67): Show c.-789-13012_-789-13011insATAATATAAATATTTATATTTTAT TTATAATATAAATATTTAATTT	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL3_chrX_132364320_132494038	132396361	T T	TATATATA others(39): Show TATATATATTCATATATATTCATATATATTCATATATATATATTCCT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	189	0.0053	46	c.343 others(63): Show c.343-4028_343-4027insAGGAATATATATATATGAATATATATGA ATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT2_chr2_8847690_9008684	8912373	G G	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0063 a0001c0001t0011g0063	1	82	0.0122	46	c.300 others(63): Show c.300-3658_300-3657insTTCTCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTTTCTTTCTTT	MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	3/12			chr2	TogoVar
MBOAT2_chr2_8847690_9008684	8912373	G G	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0052 a0001c0001t0012g0052	1	82	0.0122	46	c.300 others(63): Show c.300-3658_300-3657insTTCTTTCTTTCTCTTTCTTTCTTTCTTT CTCTTTCTTTCTTTCTTT	MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	3/12			chr2	TogoVar
MBOAT2_chr2_8847690_9008684	8912373	G G	GAAAGAAA others(39): Show GAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	82	0.0122	46	c.300 others(63): Show c.300-3658_300-3657insTTCTTTCTTTCTTTCTCTTTCTTTCTTT CTTTCTCTTTCTTTCTTT	MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	3/12			chr2	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(39): Show TTATATATATATATATATTTTTATATATATATATATATATTTATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp2 NA18970.hp1 NA19009.hp1 HG01255.hp2 NA18970.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0206 a0001c0001t0005g0210 a0001c0001t0005g0253 a0001c0001t0005g0206 a0001c0001t0005g0210 a0001c0001t0005g0253	3	253	0.0119	46	c.10 others(57): Show c.1093_*1094insTATATAAATATATATATATATATATAAAAATATA TATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179486	A A	ATATATAT others(39): Show ATATATATATATATTTTTATATATATATATATATATATATTTATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp2 HG01884.hp1 HG02004.hp2 others(2): Show HG01346.hp2 HG01884.hp1 HG02004.hp2 HG04228.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0233 a0001c0001t0001g0237 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0243	5	328	0.0152	46	c.10 others(57): Show c.1089_*1090insAATATAAATATATATATATATATATATATAAAAA TATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1089		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179490	A A	ATATATAT others(39): Show ATATATATATTTTTATATATATATATATATATATATTTATATTTATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0227 a0001c0001t0041g0227	1	334	0.0030	46	c.10 others(57): Show c.1085_*1086insAATAAATATAAATATATATATATATATATATATA AAAATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1085		chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21862933	C C	CATATATA others(39): Show CATATATATATAAACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	53	0.0189	46	c.671 others(63): Show c.671-5523_671-5522insAACATATATATATATATATATATATATA TATATATATATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21888810	G G	GTATATAT others(39): Show GTATATATATATATATATACACACACATATATGTGTGTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0092 a0001c0004t0002g0092	1	203	0.0049	46	c.61 others(57): Show c.6155_*6156insTATATATATATATATATACACACACATATATGTG TGTATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding		3388		chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21888810	G G	GTATATAT others(39): Show GTATATATATATATATATACACACATATATGTGTGTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0099 a0001c0002t0002g0099	1	203	0.0049	46	c.61 others(57): Show c.6155_*6156insTATATATATATATATATACACACATATATGTGTG TATATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding		3388		chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21888810	G G	GTATATAT others(39): Show GTATATATATATATATATATACACACATATATGTGTGTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00738.hp1 others(35): Show HG00280.hp1 HG00423.hp1 HG00738.hp1 HG01099.hp1 HG01123.hp1 HG01358.hp1 HG01891.hp1 HG01952.hp1 HG02040.hp1 HG02071.hp1 HG02155.hp2 HG02273.hp2 HG02602.hp1 HG03017.hp1 HG03239.hp1 HG03704.hp1 HG03942.hp1 NA18949.hp2 NA18953.hp1 NA18959.hp1 NA18965.hp1 NA18967.hp1 NA18970.hp1 NA18975.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA19004.hp1 NA19006.hp1 NA19076.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0010 others(2): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012	a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0014 others(30): Show a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0014 a0001c0002t0002g0017 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0068 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0080 a0001c0002t0002g0085 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0004g0005 a0001c0002t0004g0094 a0001c0002t0004g0111 a0001c0002t0004g0112 a0001c0002t0004g0113 a0001c0002t0010g0086 a0001c0002t0011g0045 a0001c0002t0012g0055	38	240	0.1583	46	c.61 others(57): Show c.6155_*6156insTATATATATATATATATATACACACATATATGTG TGTATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding		3388		chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21888810	G G	GTATATAT others(39): Show GTATATATATATATATATATACACACATATATGTGTGTGTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0104 a0001c0002t0004g0104	1	203	0.0049	46	c.61 others(57): Show c.6155_*6156insTATATATATATATATATATACACACATATATGTG TGTGTATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding		3388		chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21888810	G G	GTGTATAT others(39): Show GTGTATATATATATATATATACACACATATATGTGTGTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0073 a0001c0002t0002g0073	1	203	0.0049	46	c.61 others(57): Show c.6155_*6156insTGTATATATATATATATATACACACATATATGTG TGTATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding		3388		chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21888826	A A	ATATACAC others(39): Show ATATACACACATATATGTGTGTATATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 NA18978.hp1 NA19083.hp1 HG02027.hp1 NA18978.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0015 a0001c0002t0002g0050 a0001c0002t0002g0051	3	160	0.0188	46	c.61 others(57): Show c.6171_*6172insTATACACACATATATGTGTGTATATATATATATA TATATATATATT	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding		3404		chrX	TogoVar
MCC_chr5_113017106_113493453	113132427	C C	CATATATA others(39): Show CATATATATATACACACATACATATATATATACACACATACATATAT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0003 a0003	a0003c0038 a0003c0038	a0003c0038t0005 a0003c0038t0005	a0003c0038t0005g0014 a0003c0038t0005g0014	1	86	0.0116	46	c.885 others(63): Show c.885-9602_885-9601insATATATGTATGTGTGTATATATATATGT ATGTGTGTATATATATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	5/18			chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(39): Show GCGCGCGCGCGCACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0128 a0010c0009t0001g0129 a0010c0009t0001g0128 a0010c0009t0001g0129	2	50	0.0400	46	c.130 others(65): Show c.1305+1239_1305+1240insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGCGCGCGCGCG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(39): Show GCGCGCGCGCGCGCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0020 a0020	a0020c0031 a0020c0031	a0020c0031t0003 a0020c0031t0003	a0020c0031t0003g0074 a0020c0031t0003g0074	1	49	0.0204	46	c.130 others(65): Show c.1305+1239_1305+1240insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGCGCGCGCGCGCG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29			chr3	TogoVar
MCM9_chr6_118808455_118940159	118843642	A A	ATATATAT others(39): Show ATATATATATATATATATACACGTATATATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG01255.hp1 HG00558.hp2 HG00597.hp2 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0021g0323 a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0021g0323	3	339	0.0088	46	c.132 others(67): Show c.1325+12728_1325+12729insCACGTATATATATATATATATATA CGTGTATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843644	A A	ATATATAT others(39): Show ATATATATATATATATATATACACGTATATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02080.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG03017.hp2 HG03471.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18967.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19066.hp1 NA19079.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0015 a0016	a0001c0001 a0001c0002 a0001c0017 others(4): Show a0001c0001 a0001c0002 a0001c0017 a0002c0003 a0008c0011 a0015c0022 a0016c0023	a0001c0001t0001 a0001c0001t0004 a0001c0001t0020 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0020 a0001c0002t0018 a0001c0017t0001 a0002c0003t0001 a0008c0011t0001 a0015c0022t0001 a0016c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(114): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0319 a0001c0001t0001g0324 a0001c0001t0004g0010 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0172 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0207 a0001c0001t0004g0210 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0020g0272 a0001c0002t0018g0127 a0001c0017t0001g0252 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0265 a0008c0011t0001g0183 a0015c0022t0001g0226 a0016c0023t0001g0244	125	296	0.4223	46	c.132 others(67): Show c.1325+12726_1325+12727insCACGTATATATATATATATATACG TGTATATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843644	A A	ATATATAT others(39): Show ATATATATATATATATATATATACACGTATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0173 a0001c0001t0001g0174	2	173	0.0116	46	c.132 others(67): Show c.1325+12726_1325+12727insCACGTATATATATATATATACGTG TATATATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843646	A A	ATATATAT others(39): Show ATATATATATATATATATACACGTATATATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0002 a0013c0018t0002	a0013c0018t0002g0085 a0013c0018t0002g0085	1	317	0.0032	46	c.132 others(67): Show c.1325+12724_1325+12725insCACGTATATATATATATATATATA CGTGTATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843654	A A	ATATATAC others(39): Show ATATATACGTGTATATATATATATATATATACGTGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	300	0.0033	46	c.132 others(67): Show c.1325+12716_1325+12717insCATATATATATACACGTATATATA TATATATATATACACGTATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAGAAA others(39): Show GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	65	0.0154	46	c.-41 others(57): Show c.-4194_-4193insAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAGAGA others(39): Show GAGAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG01123.hp2 others(4): Show HG00597.hp1 HG00621.hp1 HG01123.hp2 HG03225.hp2 NA18612.hp2 NA18982.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0090 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0115 a0001c0001t0001g0131	7	71	0.0986	46	c.-41 others(57): Show c.-4194_-4193insAGAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAA AGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(39): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18984.hp1 NA18948.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0026 a0001c0001t0003 a0001c0001t0026	a0001c0001t0003g0183 a0001c0001t0026g0149 a0001c0001t0003g0183 a0001c0001t0026g0149	2	221	0.0090	46	c.42 others(57): Show c.4246_*4247insTATATATATATATATATATATATATACACACACA CACACACACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(39): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0076 a0001c0001t0007g0076	1	220	0.0045	46	c.42 others(57): Show c.4246_*4247insTATATATATATATATATATATATACACACACACA CACACACACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(39): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0184 a0001c0001t0006g0184	1	220	0.0045	46	c.42 others(57): Show c.4246_*4247insTATATATATATATATATATACACACACACACACA CACACACACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922462	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	174	0.0057	46	c.42 others(57): Show c.4222_*4223insAAAAAATATATATATATATATATATATATATATA TATATATATATA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3120		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84987504	A A	ATATATAT others(39): Show ATATATATACATATATACATATGTATATACCTATATACATATATAGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp2 HG02886.hp1 others(1): Show HG01109.hp2 HG02258.hp2 HG02886.hp1 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0081 others(1): Show a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0081 a0002c0002t0001g0055	4	114	0.0351	46	c.77+ others(61): Show c.77+9291_77+9292insCCTATATATGTATATAGGTATATACATATG TATATATGTATATATA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MCPH1_chr8_6401627_6653508	6567305	A A	ATGACCAT others(39): Show ATGACCATGTGTGATCCGCAAGGTCATGGATAGTGCACACGGTGCGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 NA18945.hp1 others(9): Show HG00438.hp2 HG00558.hp2 NA18945.hp1 NA18945.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18977.hp2 NA18994.hp2 NA19005.hp1 NA19060.hp2 NA19085.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0041	a0001c0001 a0002c0002 a0004c0006 others(4): Show a0001c0001 a0002c0002 a0004c0006 a0004c0010 a0005c0004 a0007c0035 a0041c0072	a0001c0001t0001 a0001c0001t0012 a0001c0001t0046 others(8): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0046 a0002c0002t0002 a0002c0002t0021 a0004c0006t0034 a0004c0010t0001 a0004c0010t0053 a0005c0004t0011 a0007c0035t0003 a0041c0072t0003	a0001c0001t0001g0197 a0001c0001t0012g0186 a0001c0001t0046g0164 others(9): Show a0001c0001t0001g0197 a0001c0001t0012g0186 a0001c0001t0046g0164 a0002c0002t0002g0008 a0002c0002t0002g0200 a0002c0002t0021g0204 a0004c0006t0034g0084 a0004c0010t0001g0088 a0004c0010t0053g0089 a0005c0004t0011g0093 a0007c0035t0003g0014 a0041c0072t0003g0095	12	260	0.0462	46	c.221 others(67): Show c.2215-54139_2215-54094dupGTGATCCGCAAGGTCATGGATAGT GCACACGGTGCGGTGACCATGT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCTP2_chr15_94226561_94488952	94243317	G G	GTATATGC others(39): Show GTATATGCGTATGTACATACATACGTATGCGTATATGCGTATGTACA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	236	0.0042	46	c.-66 others(65): Show c.-66+11655_-66+11656insTATGCGTATGTACATACATACGTATG CGTATATGCGTATGTACATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94243457	G G	GCGTATGT others(39): Show GCGTATGTACACACATACGTATGCGTACATGCGTATGTACACACATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA21309.hp2 HG03516.hp1 NA21309.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0021 a0001c0001 a0012c0021	a0001c0001t0057 a0012c0021t0013 a0001c0001t0057 a0012c0021t0013	a0001c0001t0057g0090 a0012c0021t0013g0091 a0001c0001t0057g0090 a0012c0021t0013g0091	2	253	0.0079	46	c.-66 others(65): Show c.-66+11799_-66+11800insTACACACATACGTATGCGTACATGCG TATGTACACACATACGTATG	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94390049	C C	CATATATA others(39): Show CATATATATATATATATACATATATATATATATATATATGTGTATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	195	0.0051	46	c.178 others(65): Show c.1788+4541_1788+4542insCATATATATATATATATATATGTGTA TATATATATATATATATATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94390072	A A	ATATGTAT others(39): Show ATATGTATATATATATGTATATATATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0237 a0001c0001t0001g0238	2	269	0.0074	46	c.178 others(65): Show c.1788+4550_1788+4551insGTATATATATATGTATATATATATAT ATATGTATATATATATGTAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94464269	A A	ATATAATA others(39): Show ATATAATATATATATATATAATATATATATATTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0014 a0007c0011t0014	a0007c0011t0014g0230 a0007c0011t0014g0230	1	239	0.0042	46	c.236 others(65): Show c.2360+6027_2360+6028insATATATATATATATAATATATATATA TTATATATATATATATTATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MDGA1_chr6_37625679_37702883	37664842	G G	GACACACA others(39): Show GACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0125 a0001c0003t0125	a0001c0003t0125g0390 a0001c0003t0125g0390	1	41	0.0244	46	c.68- others(59): Show c.68-782_68-737dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	1/16			chr6	TogoVar

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