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
LY86_chr6_6583720_6659982	6659078	C C	CGAGAACA others(41): Show CGAGAACAGAAAGGGCCACATCCTGATTACAACCCAGACTCCTTAGCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	233	0.0043	48	c.44 others(59): Show c.4451_*4452insGAGAACAGAAAGGGCCACATCCTGATTACAACCC AGACTCCTTAGCGA		LY86	ENSG00000112799.9	transcript	ENST00000230568.5	protein_coding					4097		chr6	TogoVar
LY86_chr6_6583720_6659982	6659107	C C	CAACCCAG others(41): Show CAACCCAGACTCCTTAGCGAGAGAACAGAAAGGGCCACATCCTGATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(115): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01884.hp2 HG01934.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 NA18612.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18954.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18979.hp2 NA18982.hp2 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19076.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(112): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0297 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0328 a0001c0001t0001g0338 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0365 a0001c0001t0001g0375 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0001g0391 a0001c0001t0001g0395 a0001c0001t0001g0401 a0001c0001t0001g0402 a0001c0001t0001g0406 a0001c0001t0001g0408 a0001c0001t0005g0068 a0001c0003t0001g0041 a0001c0003t0001g0088 a0001c0003t0001g0089 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0235 a0002c0002t0001g0400 a0003c0004t0001g0087	118	421	0.2803	48	c.44 others(59): Show c.4480_*4481insAACCCAGACTCCTTAGCGAGAGAACAGAAAGGGC CACATCCTGATTAT		LY86	ENSG00000112799.9	transcript	ENST00000230568.5	protein_coding					4126		chr6	TogoVar
LYN_chr8_55874835_56019169	55942333	A A	ATATATAT others(41): Show ATATATATGTGTATATATATGTGTATATATATGTGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02809.hp1 HG02818.hp1 others(16): Show HG01109.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 NA18957.hp1 NA18965.hp1 NA18994.hp1 NA19004.hp1 NA19011.hp1 NA19066.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp1 NA19091.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 others(5): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0019 a0001c0002t0021 a0001c0002t0043	a0001c0002t0002g0159 a0001c0002t0004g0004 a0001c0002t0004g0085 others(16): Show a0001c0002t0002g0159 a0001c0002t0004g0004 a0001c0002t0004g0085 a0001c0002t0004g0187 a0001c0002t0004g0188 a0001c0002t0008g0204 a0001c0002t0008g0205 a0001c0002t0008g0206 a0001c0002t0009g0199 a0001c0002t0009g0200 a0001c0002t0009g0201 a0001c0002t0009g0202 a0001c0002t0009g0203 a0001c0002t0011g0215 a0001c0002t0011g0218 a0001c0002t0019g0216 a0001c0002t0019g0219 a0001c0002t0021g0162 a0001c0002t0043g0158	19	252	0.0754	48	c.132 others(63): Show c.132+349_132+350insGTGTATATATATGTGTATATATATGTGTAT ATATATATGTGTATATAT		LYN	ENSG00000254087.8	transcript	ENST00000519728.6	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
LYPD5_chr19_43790927_43807447	43794410	C C	CATATATA others(41): Show CATATATATATATACATACATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 NA18906.hp1 HG03195.hp1 NA18906.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0010 a0002c0001t0006g0010	2	404	0.0050	48	c.31 others(59): Show c.3180_*3181insATATATATATATATATATATATATATATATGTAT GTATATATATATAT		LYPD5	ENSG00000159871.15	transcript	ENST00000377950.8	protein_coding					1516		chr19	TogoVar
LYPD6B_chr2_149033699_149220262	149099428	T T	TGTACCTA others(41): Show TGTACCTAGGATCCTTGGTCCCCTCGTACCTAGGATCCTTGGTCCCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	169	0.0059	48	c.-66 others(67): Show c.-66-31454_-66-31407dupGTACCTAGGATCCTTGGTCCCCTCGT ACCTAGGATCCTTGGTCCCCTC		LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPD8_chr1_248734415_248760759	248740728	C C	CGCAATTT others(41): Show CGCAATTTGAGTTCAAGGCTGGCTCTAGGACCAGGCATGAAGCAGGGCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03209.hp1 HG03139.hp2 HG03209.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0008 a0004c0004t0003 a0001c0001t0008 a0004c0004t0003	a0001c0001t0008g0211 a0004c0004t0003g0105 a0001c0001t0008g0211 a0004c0004t0003g0105	2	371	0.0054	48	c.476 others(63): Show c.476-880_476-879insAGCCCTGCTTCATGCCTGGTCCTAGAGCCA GCCTTGAACTCAAATTGC		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6						chr1	TogoVar
LYPLA1_chr8_54041367_54106947	54084133	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19043.hp1 HG01891.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0142 a0001c0001t0002g0020 a0001c0001t0002g0142	2	259	0.0077	48	c.101 others(67): Show c.101+16774_101+16775insATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTTTTT		LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8						chr8	TogoVar
LYPLA1_chr8_54041367_54106947	54084133	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	258	0.0039	48	c.101 others(67): Show c.101+16774_101+16775insATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTTT		LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8						chr8	TogoVar
LYRM7_chr5_131165944_131210428	131181458	T T	TATATATG others(41): Show TATATATGTATATATATATAAACATATATATGTTATATATATATAAAAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02280.hp1 others(3): Show HG01884.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02723.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0061 a0001c0001t0016 a0001c0001t0061	a0001c0001t0016g0004 a0001c0001t0016g0036 a0001c0001t0016g0037 others(2): Show a0001c0001t0016g0004 a0001c0001t0016g0036 a0001c0001t0016g0037 a0001c0001t0016g0038 a0001c0001t0061g0004	6	287	0.0209	48	c.92- others(61): Show c.92-751_92-750insACATATATATGTTATATATATATAAAACATAT ATGTATATATATATAA		LYRM7	ENSG00000186687.16	transcript	ENST00000379380.9	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
LYRM7_chr5_131165944_131210428	131181467	A A	ATATATAT others(41): Show ATATATATATAACATATATATGTATATATATATAAAACATATATATGTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0104 a0001c0001t0014g0104	1	289	0.0035	48	c.92- others(61): Show c.92-733_92-732insTATAAAACATATATATGTGTATATATATAACA TATATATGTATATATA		LYRM7	ENSG00000186687.16	transcript	ENST00000379380.9	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
LYSMD3_chr5_90510626_90534584	90514755	A A	AACACACA others(41): Show AACACACACACACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0019 a0001c0001t0010g0019	1	152	0.0066	48	c.40 others(59): Show c.4063_*4064insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT		LYSMD3	ENSG00000176018.13	transcript	ENST00000315948.11	protein_coding					870		chr5	TogoVar
LYZL2_chr10_30606779_30634753	30611702	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 NA18968.hp1 NA19087.hp1 HG02630.hp1 NA18968.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0361 a0001c0001t0001g0398 a0001c0001t0001g0351 a0001c0001t0001g0361 a0001c0001t0001g0398	3	290	0.0103	48	c.25 others(57): Show c.252_*253insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT		LYZL2	ENSG00000151033.10	transcript	ENST00000647634.2	protein_coding					76		chr10	TogoVar
LZIC_chr1_9921293_9948391	9924333	T T	TATCCATA others(41): Show TATCCATATTATTTTATTTTATTTATTTATTTATTTTTTTGAGACGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0062 a0001c0001t0024g0062	1	368	0.0027	48	c.60 others(59): Show c.6018_*6065dupCTCCGTCTCAAAAAAATAAATAAATAAATAAAAT AAAATAATATGGAT		LZIC	ENSG00000162441.12	transcript	ENST00000377223.6	protein_coding					1959		chr1	TogoVar
MACIR_chr5_103253763_103283660	103261638	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	177	0.0056	48	c.-11 others(67): Show c.-114+2761_-114+2808dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT		MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
MACROD2_chr20_13990516_16058197	14230654	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	10	0.1000	48	c.271 others(69): Show c.271+144927_271+144928insTATATATATATATATATATATATA TATATATATATATATAAAAAAAAA		MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	2101303	T T	TCAGGTGG others(41): Show TCAGGTGGGTGGCATGAGACTGGGGCTCCACTCCTAAAGGGTCTCCATC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0132 a0001c0003t0001g0132	1	118	0.0085	48	c.107 others(69): Show c.1074-32013_1074-31966dupGATGGAGACCCTTTAGGAGTGGAG CCCCAGTCTCATGCCACCCACCTG		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	11/18						chr7	TogoVar
MAD2L2_chr1_11669480_11686148	11669666	G G	GTATACAT others(41): Show GTATACATATATACACGTGTATACATATACACATGTATATATATGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02622.hp1 HG02723.hp2 others(8): Show HG02109.hp1 HG02622.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG03516.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0012 a0001c0002t0001g0023 a0001c0002t0001g0041 others(1): Show a0001c0001t0001g0012 a0001c0002t0001g0023 a0001c0002t0001g0041 a0001c0002t0001g0103	11	401	0.0274	48	c.51 others(59): Show c.5108_*5109insTATACATATATATACATGTGTATATGTATACACG TGTATATATGTATA		MAD2L2	ENSG00000116670.16	transcript	ENST00000376692.9	protein_coding					4813		chr1	TogoVar
MADCAM1_chr19_491486_510343	501738	C C	CGGACTCT others(41): Show CGGACTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02257.hp2 HG03139.hp1 HG03195.hp1 HG02257.hp2 HG03139.hp1 HG03195.hp1	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0001 a0013c0022t0001	a0013c0022t0001g0044 a0013c0022t0001g0263 a0013c0022t0001g0044 a0013c0022t0001g0263	3	283	0.0106	48	c.740 others(55): Show c.740_741insCTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCA CCTCCCAGGA	p.Pro others(61): Show p.Pro246_Glu247insAspSerProAspThrThrSerGlnGluProPr oAspThrThrSerGln	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	4/5	755/1541	741/1149	247/382		INFO_REALIGN_3_PRIME	chr19	TogoVar
MADCAM1_chr19_491486_510343	501743	T T	TCTCCCGA others(41): Show TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0007 a0011 a0016 a0018 a0019 a0022	a0001c0001 a0001c0010 a0001c0012 others(22): Show a0001c0001 a0001c0010 a0001c0012 a0001c0016 a0001c0024 a0001c0036 a0001c0051 a0002c0004 a0002c0005 a0002c0013 a0002c0014 a0002c0025 a0002c0037 a0002c0043 a0003c0002 a0003c0020 a0003c0041 a0007c0009 a0007c0029 a0007c0045 a0011c0021 a0016c0040 a0018c0046 a0019c0039 a0022c0035	a0001c0001t0001 a0001c0001t0002 a0001c0010t0002 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0002 a0001c0012t0001 a0001c0016t0001 a0001c0024t0001 a0001c0036t0002 a0001c0051t0001 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0013t0002 a0002c0014t0001 a0002c0014t0002 a0002c0025t0001 a0002c0037t0001 a0002c0043t0001 a0003c0002t0001 a0003c0002t0002 a0003c0020t0001 a0003c0041t0001 a0007c0009t0001 a0007c0009t0002 a0007c0029t0001 a0007c0045t0001 a0011c0021t0001 a0011c0021t0002 a0016c0040t0001 a0018c0046t0002 a0019c0039t0001 a0022c0035t0001	a0001c0001t0001g0012 a0001c0001t0001g0043 a0001c0001t0001g0083 others(183): Show a0001c0001t0001g0012 a0001c0001t0001g0043 a0001c0001t0001g0083 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0229 a0001c0001t0002g0008 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0010t0002g0020 a0001c0010t0002g0038 a0001c0010t0002g0041 a0001c0010t0002g0192 a0001c0010t0002g0218 a0001c0010t0002g0219 a0001c0010t0002g0228 a0001c0010t0002g0236 a0001c0012t0001g0018 a0001c0012t0001g0019 a0001c0012t0001g0039 a0001c0012t0001g0176 a0001c0012t0001g0196 a0001c0012t0001g0197 a0001c0012t0001g0254 a0001c0016t0001g0028 a0001c0016t0001g0088 a0001c0016t0001g0089 a0001c0024t0001g0059 a0001c0024t0001g0090 a0001c0036t0002g0172 a0001c0051t0001g0198 a0002c0004t0001g0005 a0002c0004t0001g0007 a0002c0004t0001g0030 a0002c0004t0001g0031 a0002c0004t0001g0084 a0002c0004t0001g0117 a0002c0004t0001g0118 a0002c0004t0001g0119 a0002c0004t0001g0120 a0002c0004t0001g0121 a0002c0004t0001g0122 a0002c0004t0001g0125 a0002c0004t0001g0138 a0002c0004t0001g0142 a0002c0004t0001g0145 a0002c0004t0001g0146 a0002c0004t0001g0157 a0002c0004t0001g0159 a0002c0004t0001g0160 a0002c0004t0001g0163 a0002c0004t0001g0258 a0002c0005t0001g0017 a0002c0005t0001g0124 a0002c0005t0001g0143 a0002c0005t0002g0011 a0002c0005t0002g0030 a0002c0005t0002g0123 a0002c0005t0002g0126 a0002c0005t0002g0137 a0002c0005t0002g0144 a0002c0005t0002g0147 a0002c0005t0002g0148 a0002c0005t0002g0161 a0002c0005t0002g0162 a0002c0013t0002g0009 a0002c0013t0002g0067 a0002c0013t0002g0085 a0002c0013t0002g0086 a0002c0013t0002g0110 a0002c0014t0001g0036 a0002c0014t0001g0169 a0002c0014t0002g0021 a0002c0014t0002g0171 a0002c0014t0002g0237 a0002c0025t0001g0111 a0002c0025t0001g0112 a0002c0037t0001g0007 a0002c0043t0001g0247 a0003c0002t0001g0002 a0003c0002t0001g0004 a0003c0002t0001g0013 a0003c0002t0001g0015 a0003c0002t0001g0022 a0003c0002t0001g0023 a0003c0002t0001g0024 a0003c0002t0001g0048 a0003c0002t0001g0050 a0003c0002t0001g0051 a0003c0002t0001g0052 a0003c0002t0001g0053 a0003c0002t0001g0055 a0003c0002t0001g0056 a0003c0002t0001g0060 a0003c0002t0001g0061 a0003c0002t0001g0062 a0003c0002t0001g0063 a0003c0002t0001g0098 a0003c0002t0001g0109 a0003c0002t0001g0164 a0003c0002t0002g0004 a0003c0002t0002g0014 a0003c0002t0002g0015 a0003c0002t0002g0054 a0003c0002t0002g0057 a0003c0002t0002g0096 a0003c0020t0001g0025 a0003c0020t0001g0058 a0003c0041t0001g0105 a0007c0009t0001g0235 a0007c0009t0001g0238 a0007c0009t0001g0239 a0007c0009t0001g0240 a0007c0009t0001g0243 a0007c0009t0001g0244 a0007c0009t0001g0246 a0007c0009t0001g0250 a0007c0009t0001g0251 a0007c0009t0001g0252 a0007c0009t0002g0241 a0007c0009t0002g0249 a0007c0029t0001g0027 a0007c0045t0001g0245 a0011c0021t0001g0115 a0011c0021t0002g0113 a0011c0021t0002g0114 a0016c0040t0001g0065 a0018c0046t0002g0217 a0019c0039t0001g0007 a0022c0035t0001g0087	239	277	0.8628	48	c.784 others(55): Show c.784_785insAGGAGCCTCCCGACACCACCTCCCAGGAGCCTCCCGAC ACCACCTCCC	p.Ser others(61): Show p.Ser261_Pro262insGlnGluProProAspThrThrSerGlnGluPr oProAspThrThrSer	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	4/5	799/1541	785/1149	262/382		INFO_REALIGN_3_PRIME	chr19	TogoVar
MADCAM1_chr19_491486_510343	501743	T T	TCTCCCGA others(41): Show TCTCCCGACACCACCTCCCAGGAGCCTCCTGACACCACCTCCCAGGAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0001 a0002c0032t0001	a0002c0032t0001g0093 a0002c0032t0001g0093	1	39	0.0256	48	c.770 others(55): Show c.770_771insTGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCC AGGAGCCTCC	p.Pro others(61): Show p.Pro257_Asp258insAspThrThrSerGlnGluProProAspThrTh rSerGlnGluProPro	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	4/5	785/1541	771/1149	257/382		INFO_REALIGN_3_PRIME	chr19	TogoVar
MADCAM1_chr19_491486_510343	501762	A A	AGGAGCCT others(41): Show AGGAGCCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp2 HG00738.hp2 HG01099.hp2 others(1): Show HG00280.hp2 HG00738.hp2 HG01099.hp2 HG01175.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0002 a0010c0018t0002	a0010c0018t0002g0035 a0010c0018t0002g0175 a0010c0018t0002g0255 a0010c0018t0002g0035 a0010c0018t0002g0175 a0010c0018t0002g0255	4	361	0.0111	48	c.784 others(55): Show c.784_785insAGGAGCCTCCCGACACCACCTCCCCGGAGCCTCCCGAC ACCACCTCCC	p.Ser others(61): Show p.Ser261_Pro262insGlnGluProProAspThrThrSerProGluPr oProAspThrThrSer	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	4/5	799/1541	785/1149	262/382		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAGI1_chr3_65348526_66043918	65530854	C C	CACACACA others(41): Show CACACACACACACACACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	43	0.0233	48	c.431 others(67): Show c.431-37224_431-37223insATATATATATATATATATATATATAT ATATATGTGTGTGTGTGTGTGT		MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	2/22						chr3	TogoVar
MAGI1_chr3_65348526_66043918	65530854	C C	CACACACA others(41): Show CACACACACACACACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	43	0.0233	48	c.431 others(67): Show c.431-37224_431-37223insATATATATATATATATATATATATAT ATATATATGTGTGTGTGTGTGT		MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	2/22						chr3	TogoVar
MAGI1_chr3_65348526_66043918	65690723	A A	ACCTCCCA others(41): Show ACCTCCCAATGTGCTGGGATTACAGCCTCCCAATGTGCTGGGATTACAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02040.hp2 HG02155.hp1 others(9): Show HG01261.hp2 HG02040.hp2 HG02155.hp1 HG02970.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03492.hp1 HG03942.hp2 NA18747.hp1 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0005c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0085 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0002g0024 a0002c0002t0001g0031 a0002c0002t0002g0041 a0005c0006t0001g0054 a0005c0006t0001g0095	12	99	0.1212	48	c.314 others(67): Show c.314-68683_314-68636dupCTGTAATCCCAGCACATTGGGAGGCT GTAATCCCAGCACATTGGGAGG		MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22						chr3	TogoVar
MAGI2_chr7_78012055_79458667	78503560	C C	CCCTCCCC others(41): Show CCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0030 a0001c0014t0001g0030	1	20	0.0500	48	c.755 others(65): Show c.755-1774_755-1773insAGGAGGGGGAGGAGGAGGGGGAGGAGGA GGGGGAGGAGGAGGGGGAGG		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	4/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	79367858	C C	CACACACA others(41): Show CACACACACACACACACACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0034 a0001c0004t0001g0034	1	8	0.1250	48	c.301 others(67): Show c.301+85161_301+85162insATATATATATATATATATATATATAT ATATGTGTGTGTGTGTGTGTGT		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21						chr7	TogoVar
MAGI3_chr1_113385515_113690923	113437874	T T	TCTTCTTC others(41): Show TCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	74	0.0135	48	c.316 others(67): Show c.316+46530_316+46531insTCTTCTTCTTCTTCTTCTTCCTCTTC TTCTCCTTCTCCTTCTCCTTCT		MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAK_chr6_10757723_10843539	10828104	T T	TTATATAT others(41): Show TTATATATTTACTTATCTGATGATAATGACTATTTAAAAATATTTTATG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	270	0.0037	48	c.101 others(65): Show c.101+2396_101+2443dupCATAAAATATTTTTAAATAGTCATTATC ATCAGATAAGTAAATATATA		MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	2/14						chr6	TogoVar
MALRD1_chr10_19043801_19739478	19175463	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0011 a0011	a0011c0007 a0011c0007	a0011c0007t0001 a0011c0007t0001	a0011c0007t0001g0050 a0011c0007t0001g0051 a0011c0007t0001g0050 a0011c0007t0001g0051	2	121	0.0165	48	c.195 others(65): Show c.1951+155_1951+156insATATATATATATATATATATATATATAT ATATATATATATATATATAT		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	14/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19719207	T T	TACACATA others(41): Show TACACATATATATATATACATATATATATATATACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0062 a0062	a0062c0085 a0062c0085	a0062c0085t0001 a0062c0085t0001	a0062c0085t0001g0013 a0062c0085t0001g0013	1	148	0.0068	48	c.631 others(69): Show c.6315-11498_6315-11497insCACATATATATATATACATATATA TATATATACATATATATATATACA		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(41): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	17	0.0588	48	c.191 others(67): Show c.1911+2785_1911+2786insTATATATATAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGA		MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(41): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0084	1	17	0.0588	48	c.191 others(67): Show c.1911+2785_1911+2786insTATATATATATAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGA		MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(41): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	17	0.0588	48	c.191 others(67): Show c.1911+2785_1911+2786insTATATATATATATAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGA		MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(41): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0090	1	17	0.0588	48	c.191 others(67): Show c.1911+2785_1911+2786insTATATATATATATATAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGA		MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(41): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	17	0.0588	48	c.191 others(67): Show c.1911+2785_1911+2786insTATATATATATATATATAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGA		MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(41): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	17	0.0588	48	c.191 others(67): Show c.1911+2785_1911+2786insTATATATATATATATATATAGAGAGA GAGAGAGAGAGAGAGAGAGAGA		MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(41): Show TATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03516.hp1 HG02071.hp2 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0005 a0004c0005t0003 a0001c0001t0005 a0004c0005t0003	a0001c0001t0005g0071 a0004c0005t0003g0008 a0001c0001t0005g0071 a0004c0005t0003g0008	2	18	0.1111	48	c.191 others(67): Show c.1911+2785_1911+2786insTATATATATATATATATATATAGAGA GAGAGAGAGAGAGAGAGAGAGA		MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(41): Show TATATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA19085.hp1 NA18747.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0194 a0001c0001t0001g0056 a0001c0001t0001g0194	2	18	0.1111	48	c.191 others(67): Show c.1911+2785_1911+2786insTATATATATATATATATATATATAGA GAGAGAGAGAGAGAGAGAGAGA		MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(41): Show TATATATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA19081.hp1 HG00323.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0269 a0001c0001t0001g0034 a0001c0001t0001g0269	2	18	0.1111	48	c.191 others(67): Show c.1911+2785_1911+2786insTATATATATATATATATATATATATA GAGAGAGAGAGAGAGAGAGAGA		MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
MAML3_chr4_139711753_140159184	140074199	G G	GAGAAAGA others(41): Show GAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01257.hp1 HG01496.hp2 others(9): Show HG00639.hp2 HG01257.hp1 HG01496.hp2 HG01884.hp2 HG02055.hp2 HG02280.hp2 HG02486.hp2 HG02723.hp1 HG02976.hp1 HG03098.hp2 HG03195.hp1 NA18522.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0012	a0001c0002 a0001c0011 a0001c0023 others(7): Show a0001c0002 a0001c0011 a0001c0023 a0001c0027 a0002c0003 a0003c0021 a0005c0008 a0005c0013 a0006c0007 a0012c0026	a0001c0002t0001 a0001c0011t0005 a0001c0023t0002 others(7): Show a0001c0002t0001 a0001c0011t0005 a0001c0023t0002 a0001c0027t0001 a0002c0003t0002 a0003c0021t0012 a0005c0008t0002 a0005c0013t0004 a0006c0007t0017 a0012c0026t0041	a0001c0002t0001g0098 a0001c0011t0005g0059 a0001c0023t0002g0079 others(9): Show a0001c0002t0001g0098 a0001c0011t0005g0059 a0001c0023t0002g0079 a0001c0027t0001g0050 a0002c0003t0002g0014 a0002c0003t0002g0096 a0002c0003t0002g0102 a0003c0021t0012g0075 a0005c0008t0002g0095 a0005c0013t0004g0053 a0006c0007t0017g0011 a0012c0026t0041g0125	12	71	0.1690	48	c.468 others(67): Show c.468+78660_468+78661insTTCTCTTTCTTTCTCTCTCTCTCTCT CTTTCTTTCTTTCTTTCTTTCT		MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4						chr4	TogoVar
MAML3_chr4_139711753_140159184	140074199	G G	GAGAAAGA others(41): Show GAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02523.hp2 NA18939.hp2 HG01106.hp1 HG02523.hp2 NA18939.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0004 a0002c0003 a0013c0025 a0001c0004 a0002c0003 a0013c0025	a0001c0004t0001 a0002c0003t0003 a0013c0025t0003 a0001c0004t0001 a0002c0003t0003 a0013c0025t0003	a0001c0004t0001g0021 a0002c0003t0003g0089 a0013c0025t0003g0060 a0001c0004t0001g0021 a0002c0003t0003g0089 a0013c0025t0003g0060	3	62	0.0484	48	c.468 others(67): Show c.468+78660_468+78661insTTCTTTCTCTTTCTTTCTCTCTCTCT CTCTCTTTCTTTCTTTCTTTCT		MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4						chr4	TogoVar
MAML3_chr4_139711753_140159184	140104378	T T	TATATATA others(41): Show TATATATATATTATATATTATATAATATATATATATTATATATTATATA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18991.hp1 NA18968.hp1 NA18991.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0009 a0002c0003t0006 a0001c0001t0009 a0002c0003t0006	a0001c0001t0009g0132 a0002c0003t0006g0137 a0001c0001t0009g0132 a0002c0003t0006g0137	2	149	0.0134	48	c.468 others(67): Show c.468+48481_468+48482insTATATAATATATAATATATATATATT ATATAATATATAATATATATAT		MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4						chr4	TogoVar
MAMLD1_chrX_150358317_150519173	150404051	A A	AAAGGAAG others(41): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18906.hp2 NA20300.hp1 HG02145.hp1 NA18906.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0029 a0001c0001t0001g0030 a0002c0002t0002g0020 a0001c0001t0001g0029 a0001c0001t0001g0030 a0002c0002t0002g0020	3	159	0.0189	48	c.-64 others(67): Show c.-64+40535_-64+40536insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAA		MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
MAN1A2_chr1_117362449_117533872	117458485	A A	ATATATAT others(41): Show ATATATATATCTATATATATATAGATATATATATATAGATATATATATC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	1	353	0.0028	48	c.951 others(65): Show c.951-1995_951-1994insCTATATATATATAGATATATATATATAG ATATATATATCTATATATAT		MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP2K1_chr15_66381912_66496544	66469693	G G	GACACACA others(41): Show GACACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02145.hp1 HG03139.hp2 others(3): Show HG01934.hp2 HG02145.hp1 HG03139.hp2 NA18522.hp1 NA18949.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0119 others(3): Show a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0153 a0001c0001t0001g0217 a0001c0001t0001g0230	6	194	0.0309	48	c.569 others(67): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACACACACACACACACACA		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(41): Show CACACACACACACACACACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18993.hp2 NA18994.hp1 others(1): Show HG02056.hp2 NA18993.hp2 NA18994.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0060 a0001c0001t0002g0084 a0001c0001t0002g0091 others(1): Show a0001c0001t0002g0060 a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0001t0005g0241	4	255	0.0157	48	c.569 others(67): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACACACACACACACACATA		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(41): Show CACACACACACACACACACACACACACACACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18992.hp1 NA18986.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0052 a0001c0001t0003g0206 a0001c0001t0002g0052 a0001c0001t0003g0206	2	253	0.0079	48	c.569 others(67): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACACACACACACACATATA		MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67590468	T T	TCTCTCTC others(41): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	8	0.1250	48	c.432 others(65): Show c.432-2450_432-2449insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCACTCTCTCT		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K6_chr17_69409697_69558865	69491108	T T	TTTCCTTC others(41): Show TTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01891.hp2 HG02615.hp2 others(3): Show HG01346.hp2 HG01891.hp2 HG02615.hp2 HG02922.hp1 HG03453.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0002t0006 others(2): Show a0001c0001t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0033	a0001c0001t0002g0047 a0001c0002t0004g0203 a0001c0002t0006g0045 others(3): Show a0001c0001t0002g0047 a0001c0002t0004g0203 a0001c0002t0006g0045 a0001c0002t0006g0051 a0001c0002t0007g0202 a0001c0002t0033g0109	6	232	0.0259	48	c.17- others(65): Show c.17-14661_17-14660insTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTC		MAP2K6	ENSG00000108984.16	transcript	ENST00000590474.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP2_chr2_209419047_209739112	209434922	A A	ATATATAT others(41): Show ATATATATATGTTATATATATATGTTATATATATATGTTATATATATGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA21309.hp2 HG03225.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0006 a0001c0001t0003 a0001c0003t0006	a0001c0001t0003g0074 a0001c0003t0006g0023 a0001c0001t0003g0074 a0001c0003t0006g0023	2	141	0.0142	48	c.-22 others(69): Show c.-222+10666_-222+10667insATGTTATATATATATGTTATATAT ATGTTATATATATGTTATATATAT		MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr2	TogoVar

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