Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
NAALADL2_chr3_174854334_175815548	175314690	A A	ATATATAT others(11): Show ATATATATATAGTTCTAAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0011	a0002c0005t0011g0019 a0002c0005t0011g0019	1	64	0.0156	18	c.940 others(35): Show c.940-9475_940-9474insGTTCTAACTATATATATA		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175314692	A A	ATATATAT others(11): Show ATATATATATAGTTCTAAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0007 a0001c0013t0007	a0001c0013t0007g0021 a0001c0013t0007g0021	1	64	0.0156	18	c.940 others(35): Show c.940-9473_940-9472insGTTCTAACTATATATATA		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175343655	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0002 a0016c0015t0002	a0016c0015t0002g0005 a0016c0015t0002g0005	1	64	0.0156	18	c.109 others(39): Show c.1090+19334_1090+19351dupTTTTTTTTTTTTTTTTTT		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175412891	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03225.hp1 HG01109.hp1 HG03225.hp1	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0033 a0002c0005t0023 a0002c0004t0033 a0002c0005t0023	a0002c0004t0033g0022 a0002c0005t0023g0045 a0002c0004t0033g0022 a0002c0005t0023g0045	2	64	0.0313	18	c.109 others(39): Show c.1091-34317_1091-34300dupATTATTATTATTATTATT		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175463701	G G	GGGGAGAG others(11): Show GGGGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0002 a0001c0001t0022g0002	1	64	0.0156	18	c.132 others(35): Show c.1327+209_1327+210insGGAGAGAGAGAGAGAGAG		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175465473	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19043.hp1 NA21309.hp1 HG02922.hp2 NA19043.hp1 NA21309.hp1	a0002 a0005 a0014 a0002 a0005 a0014	a0002c0005 a0005c0006 a0014c0022 a0002c0005 a0005c0006 a0014c0022	a0002c0005t0032 a0005c0006t0020 a0014c0022t0001 a0002c0005t0032 a0005c0006t0020 a0014c0022t0001	a0002c0005t0032g0050 a0005c0006t0020g0052 a0014c0022t0001g0034 a0002c0005t0032g0050 a0005c0006t0020g0052 a0014c0022t0001g0034	3	64	0.0469	18	c.132 others(37): Show c.1328-1504_1328-1487dupTTTTTTTTTTTTTTTTTT		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175501424	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02109.hp1 HG00639.hp1 HG02109.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0010 a0003c0003 a0006c0010	a0003c0003t0016 a0006c0010t0019 a0003c0003t0016 a0006c0010t0019	a0003c0003t0016g0060 a0006c0010t0019g0016 a0003c0003t0016g0060 a0006c0010t0019g0016	2	64	0.0313	18	c.165 others(39): Show c.1653+29668_1653+29685dupCACACACACACACACACA		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175583012	G G	GTCCAATA others(11): Show GTCCAATAAACCCACTGTA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0002 a0016c0015t0002	a0016c0015t0002g0005 a0016c0015t0002g0005	1	64	0.0156	18	c.180 others(37): Show c.1800+6826_1800+6827insCCAATAAACCCACTGTAT		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	10/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175628609	C C	CTATGTGT others(11): Show CTATGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19043.hp1 HG02809.hp2 NA19043.hp1	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0003 a0002c0005t0032 a0002c0004t0003 a0002c0005t0032	a0002c0004t0003g0028 a0002c0005t0032g0050 a0002c0004t0003g0028 a0002c0005t0032g0050	2	64	0.0313	18	c.189 others(37): Show c.1896+1224_1896+1225insATGTGTATATATATATAT		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175698483	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0026 a0001c0001t0031g0026	1	64	0.0156	18	c.189 others(39): Show c.1897-38822_1897-38821insTTATATATATATATATAT		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175737714	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0056 a0003c0003t0001g0056	1	64	0.0156	18	c.199 others(35): Show c.1990+328_1990+345dupTTTTTTTTTTTTTTTTTT		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NABP1_chr2_191673136_191691943	191690439	A A	ATATATAT others(11): Show ATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	394	0.0025	18	c.46 others(29): Show c.4671_*4672insTATATATATATATATATT		NABP1	ENSG00000173559.15	transcript	ENST00000425611.9	protein_coding					3497		chr2	TogoVar
NACC2_chr9_136001537_136100289	136041095	A A	AAAGGAAA others(11): Show AAAGGAAAGGAAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0196 a0001c0004t0004g0196	1	348	0.0029	18	c.886 others(35): Show c.886+8540_886+8541insCCTTCCTTTCCTTTCCTT		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5						chr9	TogoVar
NACC2_chr9_136001537_136100289	136051876	A A	AAGGAGGA others(11): Show AAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18906.hp2 NA18979.hp2 HG01978.hp1 NA18906.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0005 a0001c0003t0089 a0001c0002t0003 a0001c0003t0005 a0001c0003t0089	a0001c0002t0003g0308 a0001c0003t0005g0302 a0001c0003t0089g0014 a0001c0002t0003g0308 a0001c0003t0005g0302 a0001c0003t0089g0014	3	348	0.0086	18	c.-59 others(35): Show c.-59-1314_-59-1297dupCCTCCTCCTCCTCCTCCT		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5						chr9	TogoVar
NACC2_chr9_136001537_136100289	136051915	G G	GAGGAGGA others(11): Show GAGGAGGAGGAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02165.hp2 HG02572.hp2 others(7): Show HG01081.hp2 HG02165.hp2 HG02572.hp2 HG02970.hp1 HG03540.hp2 NA18939.hp2 NA18971.hp2 NA18983.hp1 NA18999.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0024 a0001c0035 a0001c0042	a0001c0001t0001 a0001c0001t0009 a0001c0003t0091 others(5): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0091 a0001c0004t0011 a0001c0011t0001 a0001c0024t0014 a0001c0035t0101 a0001c0042t0004	a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0009g0065 others(7): Show a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0009g0065 a0001c0003t0091g0218 a0001c0004t0011g0248 a0001c0011t0001g0101 a0001c0011t0001g0266 a0001c0024t0014g0044 a0001c0035t0101g0286 a0001c0042t0004g0074	10	348	0.0287	18	c.-59 others(35): Show c.-59-1336_-59-1335insTCTCCTCCTCCTCCTCCT		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5						chr9	TogoVar
NACC2_chr9_136001537_136100289	136096492	G G	GCACACAC others(11): Show GCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01978.hp2 HG02257.hp1 others(9): Show HG01074.hp2 HG01978.hp2 HG02257.hp1 HG02300.hp1 HG02486.hp1 HG02615.hp1 HG03130.hp1 HG03453.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA18998.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0002c0006 a0003c0015	a0001c0001t0023 a0001c0001t0102 a0001c0002t0016 others(7): Show a0001c0001t0023 a0001c0001t0102 a0001c0002t0016 a0001c0003t0014 a0001c0003t0089 a0001c0004t0004 a0001c0005t0030 a0001c0010t0005 a0002c0006t0006 a0003c0015t0010	a0001c0001t0023g0037 a0001c0001t0102g0010 a0001c0002t0016g0026 others(9): Show a0001c0001t0023g0037 a0001c0001t0102g0010 a0001c0002t0016g0026 a0001c0003t0014g0012 a0001c0003t0089g0014 a0001c0004t0004g0027 a0001c0005t0030g0029 a0001c0010t0005g0024 a0001c0010t0005g0028 a0002c0006t0006g0060 a0002c0006t0006g0061 a0003c0015t0010g0002	12	348	0.0345	18	c.-13 others(29): Show c.-1364_-1363insTGTGTGTGTGTGTGTGTG		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding					1204		chr9	TogoVar
NACC2_chr9_136001537_136100289	136098270	A A	ACCACCCC others(11): Show ACCACCCCCGCCTCATACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0125 a0001c0003t0005g0125	1	348	0.0029	18	c.-31 others(29): Show c.-3142_-3141insGGTATGAGGCGGGGGTGG		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding					2982		chr9	TogoVar
NADK2_chr5_36187589_36246925	36213618	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00735.hp2 others(57): Show HG00140.hp1 HG00280.hp2 HG00735.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01517.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02109.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02896.hp2 HG03041.hp2 HG03139.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03834.hp1 NA18522.hp1 NA18943.hp2 NA18948.hp2 NA18951.hp1 NA18957.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18995.hp1 NA19004.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19087.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0001t0028 a0001c0001t0039 a0001c0002t0007 a0001c0002t0009 a0001c0002t0030 a0001c0003t0007	a0001c0001t0001g0068 a0001c0001t0002g0003 a0001c0001t0002g0007 others(43): Show a0001c0001t0001g0068 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0003g0234 a0001c0001t0004g0261 a0001c0001t0006g0275 a0001c0001t0010g0034 a0001c0001t0010g0124 a0001c0001t0010g0125 a0001c0001t0010g0126 a0001c0001t0014g0175 a0001c0001t0019g0257 a0001c0001t0028g0132 a0001c0001t0028g0133 a0001c0001t0039g0178 a0001c0002t0007g0021 a0001c0002t0007g0063 a0001c0002t0009g0056 a0001c0002t0030g0057 a0001c0003t0007g0031 a0001c0003t0007g0098 a0001c0003t0007g0102	60	384	0.1563	18	c.782 others(35): Show c.782-1697_782-1696insATATATATATATATATAT		NADK2	ENSG00000152620.13	transcript	ENST00000381937.9	protein_coding	6/11						chr5	TogoVar
NAIP_chr5_70963166_71030339	71000542	A A	AATTATTA others(11): Show AATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	141	0.0071	18	c.922 others(35): Show c.922+1155_922+1156insAATAATAATAATAATAAT		NAIP	ENSG00000249437.8	transcript	ENST00000517649.6	protein_coding	8/16						chr5	TogoVar
NAIP_chr5_70963166_71030339	71000545	A A	AATAATTA others(11): Show AATAATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	141	0.0071	18	c.922 others(35): Show c.922+1152_922+1153insAATAATAATAATAATTAT		NAIP	ENSG00000249437.8	transcript	ENST00000517649.6	protein_coding	8/16						chr5	TogoVar
NALCN_chr13_101048776_101421508	101136314	A A	ATTTATTT others(11): Show ATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02615.hp2 others(6): Show HG02257.hp1 HG02258.hp2 HG02615.hp2 HG02809.hp1 HG02809.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0019 a0002c0030	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0004t0009 a0001c0006t0008 a0001c0019t0001 a0002c0030t0001	a0001c0001t0001g0092 a0001c0001t0003g0001 a0001c0001t0003g0168 others(6): Show a0001c0001t0001g0092 a0001c0001t0003g0001 a0001c0001t0003g0168 a0001c0001t0005g0021 a0001c0002t0002g0142 a0001c0004t0009g0037 a0001c0006t0008g0047 a0001c0019t0001g0006 a0002c0030t0001g0169	9	176	0.0511	18	c.211 others(37): Show c.2118+6765_2118+6766insAATAAATAAATAAATAAA		NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	17/43						chr13	TogoVar
NALCN_chr13_101048776_101421508	101177409	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02735.hp2 HG01515.hp1 HG02735.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0063 a0001c0008t0001g0083 a0001c0008t0001g0063 a0001c0008t0001g0083	2	176	0.0114	18	c.176 others(37): Show c.1765-1053_1765-1036dupTATATATATATATATATA		NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	14/43						chr13	TogoVar
NALCN_chr13_101048776_101421508	101259732	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0051	1	176	0.0057	18	c.113 others(37): Show c.1135-1176_1135-1159dupTATATATATATATATATA		NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	10/43						chr13	TogoVar
NALCN_chr13_101048776_101421508	101259751	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0150 a0001c0003t0001g0150	1	176	0.0057	18	c.113 others(37): Show c.1135-1178_1135-1177insGTATATATATATATATAT		NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	10/43						chr13	TogoVar
NALCN_chr13_101048776_101421508	101345737	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02451.hp1 NA18941.hp1 others(1): Show HG02040.hp2 HG02451.hp1 NA18941.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0015 a0001c0003t0001 others(1): Show a0001c0001t0003 a0001c0001t0015 a0001c0003t0001 a0001c0003t0002	a0001c0001t0003g0042 a0001c0001t0015g0125 a0001c0003t0001g0128 others(1): Show a0001c0001t0003g0042 a0001c0001t0015g0125 a0001c0003t0001g0128 a0001c0003t0002g0117	4	176	0.0227	18	c.645 others(33): Show c.645-335_645-318dupATATATATATATATATAT		NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43						chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTAT others(11): Show CTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02897.hp1 HG02258.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0014 a0001c0001t0003 a0001c0005t0014	a0001c0001t0003g0085 a0001c0005t0014g0007 a0001c0001t0003g0085 a0001c0005t0014g0007	2	176	0.0114	18	c.645 others(33): Show c.645-668_645-667insTATATATATATATAGAGA		NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43						chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(11): Show CTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0006 a0001c0019t0001g0006	1	176	0.0057	18	c.645 others(33): Show c.645-668_645-667insTATATATATAGAGAGAGA		NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43						chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02615.hp1 HG02615.hp2 others(1): Show HG02027.hp1 HG02615.hp1 HG02615.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0029 a0001c0001 a0001c0002 a0003c0029	a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0003c0029t0005	a0001c0001t0004g0008 a0001c0001t0005g0021 a0001c0002t0002g0103 others(1): Show a0001c0001t0004g0008 a0001c0001t0005g0021 a0001c0002t0002g0103 a0003c0029t0005g0114	4	176	0.0227	18	c.645 others(33): Show c.645-668_645-667insTATATATAGAGAGAGAGA		NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43						chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02723.hp2 HG01358.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0001 a0001c0010t0007 a0001c0004t0001 a0001c0010t0007	a0001c0004t0001g0075 a0001c0010t0007g0003 a0001c0004t0001g0075 a0001c0010t0007g0003	2	176	0.0114	18	c.645 others(33): Show c.645-668_645-667insTATATAGAGAGAGAGAGA		NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43						chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0031 a0001c0004t0001g0031	1	176	0.0057	18	c.645 others(33): Show c.645-668_645-667insTATAGAGAGAGAGAGAGA		NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43						chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	176	0.0057	18	c.645 others(33): Show c.645-668_645-667insTAGAGAGAGAGAGAGAGA		NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43						chr13	TogoVar
NALCN_chr13_101048776_101421508	101415228	T T	TATATATA others(11): Show TATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00738.hp1 others(10): Show HG00280.hp1 HG00408.hp1 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01358.hp2 HG02015.hp2 HG02027.hp2 HG02109.hp1 HG03490.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0013 a0001c0024	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0005t0011 a0001c0007t0002 a0001c0008t0001 a0001c0013t0001 a0001c0024t0012	a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0002t0002g0068 others(10): Show a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0003t0001g0064 a0001c0004t0001g0075 a0001c0005t0011g0073 a0001c0007t0002g0067 a0001c0007t0002g0071 a0001c0007t0002g0074 a0001c0008t0001g0065 a0001c0013t0001g0072 a0001c0024t0012g0081	13	176	0.0739	18	c.-40 others(35): Show c.-40+1084_-40+1085insGTATGTATATATATATAT		NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	1/43						chr13	TogoVar
NALF1_chr13_107158510_107872496	107262769	G G	GCGCGCGC others(11): Show GCGCGCGCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02976.hp1 HG02056.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0084 a0001c0001t0015 a0001c0001t0084	a0001c0001t0015g0099 a0001c0001t0084g0110 a0001c0001t0015g0099 a0001c0001t0084g0110	2	128	0.0156	18	c.916 others(37): Show c.916-52015_916-52014insAGAGAGAGAGAGCGCGCG		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NALF1_chr13_107158510_107872496	107299435	C C	CAATAATA others(11): Show CAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0002 a0001c0002t0017g0002	1	128	0.0078	18	c.916 others(37): Show c.916-88698_916-88681dupATTATTATTATTATTATT		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NALF1_chr13_107158510_107872496	107340468	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0067 a0001c0001t0055g0067	1	128	0.0078	18	c.916 others(39): Show c.916-129714_916-129713insGAAAGAAAGAAAGAAAGA		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NALF1_chr13_107158510_107872496	107390877	T T	TTAATAAT others(11): Show TTAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18967.hp2 HG02451.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0053 a0001c0001t0008 a0001c0001t0053	a0001c0001t0008g0109 a0001c0001t0053g0066 a0001c0001t0008g0109 a0001c0001t0053g0066	2	128	0.0156	18	c.916 others(39): Show c.916-180140_916-180123dupTTATTATTATTATTATTA		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NALF1_chr13_107158510_107872496	107438827	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02622.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0072 a0001c0002t0004 a0001c0002t0072	a0001c0002t0004g0070 a0001c0002t0072g0083 a0001c0002t0004g0070 a0001c0002t0072g0083	2	128	0.0156	18	c.916 others(39): Show c.916-228090_916-228073dupTTTTTTTTTTTTTTTTTT		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NALF1_chr13_107158510_107872496	107540049	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02132.hp1 HG02622.hp1 others(4): Show HG01071.hp2 HG02132.hp1 HG02622.hp1 HG03041.hp1 HG03041.hp2 HG04228.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0042 a0001c0001t0045 others(4): Show a0001c0001t0009 a0001c0001t0042 a0001c0001t0045 a0001c0001t0052 a0001c0001t0075 a0001c0002t0013 a0001c0002t0046	a0001c0001t0009g0012 a0001c0001t0042g0044 a0001c0001t0045g0039 others(4): Show a0001c0001t0009g0012 a0001c0001t0042g0044 a0001c0001t0045g0039 a0001c0001t0052g0038 a0001c0001t0075g0096 a0001c0002t0013g0082 a0001c0002t0046g0081	7	128	0.0547	18	c.915 others(39): Show c.915+325615_915+325632dupGTGTGTGTGTGTGTGTGT		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NALF1_chr13_107158510_107872496	107540049	T T	TGTACACA others(11): Show TGTACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0080 a0001c0002t0050g0080	1	128	0.0078	18	c.915 others(39): Show c.915+325632_915+325633insGTGTGTGTGTGTGTGTAC		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NALF1_chr13_107158510_107872496	107586635	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0069 a0001c0001t0047g0069	1	128	0.0078	18	c.915 others(39): Show c.915+279046_915+279047insAAAAAAAAAAAAAAAAAA		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NALF1_chr13_107158510_107872496	107638201	A A	ATATATAT others(11): Show ATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00741.hp1 others(5): Show HG00099.hp2 HG00323.hp2 HG00741.hp1 HG00741.hp2 HG01358.hp1 HG01433.hp2 HG01884.hp1 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0001t0023 a0001c0001t0028 a0001c0001t0074 a0001c0001t0091 a0002c0003t0003	a0001c0001t0002g0047 a0001c0001t0004g0033 a0001c0001t0015g0095 others(5): Show a0001c0001t0002g0047 a0001c0001t0004g0033 a0001c0001t0015g0095 a0001c0001t0023g0008 a0001c0001t0028g0010 a0001c0001t0074g0088 a0001c0001t0091g0115 a0002c0003t0003g0123	8	128	0.0625	18	c.915 others(39): Show c.915+227480_915+227481insCATACATATATATATATA		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NALF1_chr13_107158510_107872496	107644642	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01361.hp1 HG02132.hp1 others(1): Show HG01071.hp1 HG01361.hp1 HG02132.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0045 a0001c0001t0079 a0001c0005t0076 others(1): Show a0001c0001t0045 a0001c0001t0079 a0001c0005t0076 a0001c0006t0021	a0001c0001t0045g0039 a0001c0001t0079g0114 a0001c0005t0076g0106 others(1): Show a0001c0001t0045g0039 a0001c0001t0079g0114 a0001c0005t0076g0106 a0001c0006t0021g0009	4	128	0.0313	18	c.915 others(39): Show c.915+221039_915+221040insATATATATATATATATAT		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NALF1_chr13_107158510_107872496	107749128	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0088 a0001c0001t0074g0088	1	128	0.0078	18	c.915 others(39): Show c.915+116536_915+116553dupCACACACACACACACACA		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NALF1_chr13_107158510_107872496	107756435	C C	CTATATAT others(11): Show CTATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0034 a0001c0001t0063g0034	1	128	0.0078	18	c.915 others(39): Show c.915+109246_915+109247insTATATATGTATATATATA		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NALF1_chr13_107158510_107872496	107756435	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0023 a0001c0001t0012g0023	1	128	0.0078	18	c.915 others(39): Show c.915+109229_915+109246dupTATATATATATATATATA		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NAMPT_chr7_106243298_106289983	106267840	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01258.hp1 HG02027.hp1 others(6): Show HG01070.hp2 HG01258.hp1 HG02027.hp1 HG03195.hp1 NA18964.hp2 NA18965.hp2 NA18974.hp1 NA18997.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0097 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0097 a0001c0001t0001g0167 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0002g0081	9	336	0.0268	18	c.743 others(33): Show c.743+606_743+623dupTTTTTTTTTTTTTTTTTT		NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10						chr7	TogoVar
NANOGNB_chr12_7760216_7779121	7765569	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 NA19043.hp2 HG02896.hp2 HG02897.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0090 a0001c0001t0001g0031 a0001c0001t0001g0090	3	460	0.0065	18	c.102 others(33): Show c.102+185_102+202dupAAAAAAAAAAAAAAAAAA		NANOGNB	ENSG00000205857.2	transcript	ENST00000382119.1	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr12	TogoVar
NANOS3_chr19_13872134_13885757	13877367	T T	TGGAGCCG others(11): Show TGGAGCCGGTGTCAGCGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp1 HG02109.hp1 HG02280.hp2 others(10): Show HG01109.hp1 HG02109.hp1 HG02280.hp2 HG02451.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03130.hp2 HG03486.hp1 HG03540.hp1 HG04228.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0003 a0002c0003t0001 a0002c0003t0003	a0002c0003t0001g0011 a0002c0003t0003g0004 a0002c0003t0001g0011 a0002c0003t0003g0004	13	380	0.0342	18	c.134 others(25): Show c.134_135insGCCGGAGCCGGTGTCAGC	p.Ala others(29): Show p.Ala45_Leu46insProGluProValSerAla	NANOS3	ENSG00000187556.8	transcript	ENST00000339133.6	protein_coding	1/2	250/948	135/579	45/192		INFO_REALIGN_3_PRIME	chr19	TogoVar
NANOS3_chr19_13872134_13885757	13882215	G G	GGAGATTC others(11): Show GGAGATTCGCCCCCCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	380	0.0026	18	c.17 others(29): Show c.1712_*1713insGAGATTCGCCCCCCCCTT		NANOS3	ENSG00000187556.8	transcript	ENST00000339133.6	protein_coding					1459		chr19	TogoVar
NAP1L1_chr12_76031585_76089685	76058191	C C	CTTCATAT others(11): Show CTTCATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0157 a0001c0001t0007g0157	1	356	0.0028	18	c.429 others(35): Show c.429+1606_429+1607insTATATATATATATATGAA		NAP1L1	ENSG00000187109.15	transcript	ENST00000618691.5	protein_coding	6/14						chr12	TogoVar

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