Joint Open Genome and Omics Platform (JoGo)

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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	status	chr	external
MYLK_chr3_123605049_123889332	123618766	ATCT ATCT	A A	disruptive_inframe_deletion others(1): Show disruptive_inframe_deletion splice_region_variant	MODERATE	HG00408.hp1 HG00408.hp2 HG00408.hp1 HG00408.hp2	a0021 a0022 a0021 a0022	a0021c0036 a0022c0057 a0021c0036 a0022c0057	a0021c0036t0001 a0022c0057t0001 a0021c0036t0001 a0022c0057t0001	a0021c0036t0001g0095 a0022c0057t0001g0060 a0021c0036t0001g0095 a0022c0057t0001g0060	2	154	0.0130	-3	c.537 others(12): Show c.5370_5372delAGA	p.Glu others(7): Show p.Glu1790del	MYLK	ENSG00000065534.20	transcript	ENST00000360304.8	protein_coding	33/34	5684/10113	5370/5745	1790/1914		chr3	TogoVar
MYO15B_chr17_75582800_75631849	75589192	TGGCTGCG others(11): Show TGGCTGCGGCGGCGGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp1 HG00735.hp2 HG00738.hp1 others(40): Show HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01192.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG02027.hp1 HG02055.hp2 HG02129.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03540.hp2 HG03654.hp1 HG04199.hp1 HG06807.hp2 NA18959.hp1 NA18971.hp2 NA18973.hp1 NA18983.hp1 NA19030.hp2 NA19077.hp1 NA19087.hp2 NA20905.hp1 NA21309.hp2	a0003 a0013 a0066 others(1): Show a0003 a0013 a0066 a0097	a0003c0008 a0003c0024 a0003c0025 others(29): Show a0003c0008 a0003c0024 a0003c0025 a0003c0026 a0003c0037 a0003c0038 a0003c0039 a0003c0056 a0003c0057 a0003c0058 a0003c0059 a0003c0060 a0003c0061 a0003c0062 a0003c0063 a0003c0064 a0003c0120 a0003c0121 a0003c0122 a0003c0123 a0003c0124 a0003c0125 a0003c0126 a0003c0127 a0003c0128 a0003c0129 a0013c0040 a0013c0119 a0013c0130 a0013c0131 a0066c0073 a0097c0054	a0003c0008t0002 a0003c0024t0002 a0003c0025t0002 others(29): Show a0003c0008t0002 a0003c0024t0002 a0003c0025t0002 a0003c0026t0002 a0003c0037t0002 a0003c0038t0002 a0003c0039t0002 a0003c0056t0002 a0003c0057t0002 a0003c0058t0010 a0003c0059t0002 a0003c0060t0002 a0003c0061t0002 a0003c0062t0002 a0003c0063t0002 a0003c0064t0002 a0003c0120t0002 a0003c0121t0002 a0003c0122t0002 a0003c0123t0002 a0003c0124t0002 a0003c0125t0002 a0003c0126t0002 a0003c0127t0002 a0003c0128t0002 a0003c0129t0002 a0013c0040t0002 a0013c0119t0002 a0013c0130t0002 a0013c0131t0002 a0066c0073t0001 a0097c0054t0002	a0003c0008t0002g0047 a0003c0008t0002g0065 a0003c0008t0002g0068 others(38): Show a0003c0008t0002g0047 a0003c0008t0002g0065 a0003c0008t0002g0068 a0003c0008t0002g0070 a0003c0008t0002g0071 a0003c0024t0002g0052 a0003c0024t0002g0053 a0003c0025t0002g0064 a0003c0025t0002g0069 a0003c0026t0002g0010 a0003c0037t0002g0062 a0003c0037t0002g0063 a0003c0038t0002g0059 a0003c0038t0002g0076 a0003c0039t0002g0074 a0003c0039t0002g0075 a0003c0056t0002g0009 a0003c0057t0002g0048 a0003c0058t0010g0073 a0003c0059t0002g0009 a0003c0060t0002g0067 a0003c0061t0002g0066 a0003c0062t0002g0072 a0003c0063t0002g0054 a0003c0064t0002g0055 a0003c0120t0002g0056 a0003c0121t0002g0049 a0003c0122t0002g0058 a0003c0123t0002g0044 a0003c0124t0002g0045 a0003c0125t0002g0060 a0003c0126t0002g0061 a0003c0127t0002g0050 a0003c0128t0002g0051 a0003c0129t0002g0057 a0013c0040t0002g0011 a0013c0119t0002g0080 a0013c0130t0002g0078 a0013c0131t0002g0079 a0066c0073t0001g0077 a0097c0054t0002g0046	43	380	0.1132	-18	c.115 others(27): Show c.1151_1168delTGCGGCTGCGGCGGCGGC	p.Leu others(13): Show p.Leu384_Arg389del	MYO15B	ENSG00000266714.11	transcript	ENST00000645453.3	protein_coding	1/64	1409/9914	1151/9291	384/3096	INFO_REALIGN_3_PRIME	chr17	TogoVar
MYO15B_chr17_75582800_75631849	75589372	GACGAGGG others(47): Show GACGAGGGTCGGGGCCGCGGGAAAGCGGACGAAGGGCGGGGCCACGAGCG AGGGT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp1 HG00741.hp1 HG01070.hp1 others(14): Show HG00639.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01496.hp2 HG02027.hp2 HG02129.hp1 NA18747.hp1 NA18963.hp2 NA18981.hp1 NA18984.hp2 NA18987.hp1 NA19055.hp1 NA19067.hp1 NA19086.hp1 NA20300.hp2	a0005 a0047 a0057 a0005 a0047 a0057	a0005c0010 a0005c0011 a0005c0136 others(6): Show a0005c0010 a0005c0011 a0005c0136 a0005c0137 a0005c0138 a0005c0139 a0047c0140 a0047c0141 a0057c0142	a0005c0010t0001 a0005c0011t0001 a0005c0136t0001 others(6): Show a0005c0010t0001 a0005c0011t0001 a0005c0136t0001 a0005c0137t0001 a0005c0138t0001 a0005c0139t0001 a0047c0140t0001 a0047c0141t0001 a0057c0142t0001	a0005c0010t0001g0023 a0005c0010t0001g0179 a0005c0010t0001g0192 others(14): Show a0005c0010t0001g0023 a0005c0010t0001g0179 a0005c0010t0001g0192 a0005c0010t0001g0199 a0005c0010t0001g0233 a0005c0011t0001g0197 a0005c0011t0001g0198 a0005c0011t0001g0241 a0005c0011t0001g0248 a0005c0011t0001g0263 a0005c0136t0001g0193 a0005c0137t0001g0243 a0005c0138t0001g0217 a0005c0139t0001g0232 a0047c0140t0001g0153 a0047c0141t0001g0161 a0057c0142t0001g0112	17	382	0.0445	-54	c.132 others(63): Show c.1323_1376delTCGGGGCCGCGGGAAAGCGGACGAAGGGCGGGGCCA CGAGCGAGGGTACGAGGG	p.Arg others(13): Show p.Arg442_Gly459del	MYO15B	ENSG00000266714.11	transcript	ENST00000645453.3	protein_coding	1/64	1581/9914	1323/9291	441/3096	INFO_REALIGN_3_PRIME	chr17	TogoVar
MYT1L_chr2_1784113_2336275	1942998	TTCCTCC TTCCTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03098.hp2 HG03209.hp2 HG03098.hp2 HG03209.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0043 a0003c0011t0001g0078 a0003c0011t0001g0043 a0003c0011t0001g0078	2	101	0.0198	-6	c.483 others(13): Show c.483_488delGGAGGA	p.Glu others(13): Show p.Glu162_Glu163del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	9/25	1317/7144	483/3561	161/1186		chr2	TogoVar
MYT1_chr20_64159452_64247253	64208000	AGAG AGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp2 HG04184.hp1 HG02258.hp2 HG04184.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0003 a0004c0010t0001 a0004c0010t0003	a0004c0010t0001g0032 a0004c0010t0003g0114 a0004c0010t0001g0032 a0004c0010t0003g0114	2	222	0.0090	-3	c.819 others(10): Show c.819_821delGGA	p.Glu others(6): Show p.Glu273del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	7/23	1205/5557	819/3366	273/1121	INFO_REALIGN_3_PRIME	chr20	TogoVar
NACAD_chr7_45075437_45093969	45083858	CGAGAGAT others(473): Show CGAGAGATCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAGCGGAGTCCT GGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAGCGTGGCTGCA GCCACAGGCTTTGGGGCTGACGAGAGATCTGTGTCTTGTAGGGGCAGAGG CGGTGTCATAGCGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCT GGGACACAAGCGTGGCTGCAGCCACAGGCTTTGGGGCTGACGAGAGATCT GTGTCTTGTAGGGGCAGAGGCGGTGTCATAGCGGAGTCCTGGGGTAAGGT GAGGCCCTCTTCAGCCTGCTGGGACACAAGCGTGGCTGCAGCCACAGGCT TTGGGGCTGACGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATA ACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAT CGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02602.hp1 HG02602.hp1	a0030 a0030	a0030c0043 a0030c0043	a0030c0043t0001 a0030c0043t0001	a0030c0043t0001g0039 a0030c0043t0001g0039	1	371	0.0027	-480	c.184 others(9): Show c.1842_2321del	p.Ser others(13): Show p.Ser615_Ser774del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	2396/4836	1842/4689	614/1562		chr7	TogoVar
NACAD_chr7_45075437_45093969	45084098	CGAGAGAT others(233): Show CGAGAGATCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAGCGGAGTCCT GGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAGCGTGGCTGCA GCCACAGGCTTTGGGGCTGACGAGAGTTCTGTGTCTTGTAGGGGCAGAGG CGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCT GGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02486.hp1 HG02559.hp2 HG02622.hp2 others(5): Show HG02486.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02922.hp1 HG03041.hp2 NA19240.hp1 NA20129.hp1	a0009 a0009	a0009c0010 a0009c0019 a0009c0010 a0009c0019	a0009c0010t0001 a0009c0019t0001 a0009c0010t0001 a0009c0019t0001	a0009c0010t0001g0009 a0009c0019t0001g0020 a0009c0010t0001g0009 a0009c0019t0001g0020	8	407	0.0197	-240	c.184 others(9): Show c.1842_2081del	p.Ser others(13): Show p.Ser615_Ser694del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	2156/4836	1842/4689	614/1562		chr7	TogoVar
NACAD_chr7_45075437_45093969	45084104	ATCTGTGT others(113): Show ATCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAGCGGAGTCCTGGGGTA AGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAGCGTGGCTGCAGCCACA GGCTTTGGGGCTGACGAGAGT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02970.hp2 HG06807.hp1 HG02970.hp2 HG06807.hp1	a0012 a0042 a0012 a0042	a0012c0012 a0042c0045 a0012c0012 a0042c0045	a0012c0012t0002 a0042c0045t0001 a0012c0012t0002 a0042c0045t0001	a0012c0012t0002g0012 a0042c0045t0001g0071 a0012c0012t0002g0012 a0042c0045t0001g0071	2	408	0.0049	-120	c.195 others(9): Show c.1956_2075del	p.Glu others(13): Show p.Glu652_Thr691del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	2150/4836	1956/4689	652/1562		chr7	TogoVar
NACAD_chr7_45075437_45093969	45084138	GCGGAGTC others(113): Show GCGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAG CGTGGCTGCAGCCACAGGCTTTGGGGCTGACGAGAGTTCTGTGTCTTGTA GGGGCAGAGGCGGTGTCATAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02698.hp1 HG03516.hp2 HG02698.hp1 HG03516.hp2	a0001 a0039 a0001 a0039	a0001c0001 a0039c0036 a0001c0001 a0039c0036	a0001c0001t0001 a0039c0036t0001 a0001c0001t0001 a0039c0036t0001	a0001c0001t0001g0001 a0039c0036t0001g0091 a0001c0001t0001g0001 a0039c0036t0001g0091	2	306	0.0065	-120	c.192 others(9): Show c.1922_2041del	p.Val others(13): Show p.Val641_Ser680del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	2116/4836	1922/4689	641/1562		chr7	TogoVar
NACAD_chr7_45075437_45093969	45084218	CGAGAGTT others(113): Show CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCT GGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCA GCCACAGGCTTTGGGGCTGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02572.hp1 NA18992.hp1 HG02572.hp1 NA18992.hp1	a0004 a0050 a0004 a0050	a0004c0005 a0050c0038 a0004c0005 a0050c0038	a0004c0005t0001 a0050c0038t0001 a0004c0005t0001 a0050c0038t0001	a0004c0005t0001g0004 a0050c0038t0001g0031 a0004c0005t0001g0004 a0050c0038t0001g0031	2	306	0.0065	-120	c.184 others(9): Show c.1842_1961del	p.Ser others(13): Show p.Ser615_Ser654del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	2036/4836	1842/4689	614/1562		chr7	TogoVar
NACAD_chr7_45075437_45093969	45084224	TTCTGTGT others(113): Show TTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTA AGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACA GGCTTTGGGGCTGATGAGAGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18960.hp2 NA18978.hp1 NA18960.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	224	0.0089	-120	c.183 others(9): Show c.1836_1955del	p.Asp others(13): Show p.Asp612_Thr651del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	2030/4836	1836/4689	612/1562		chr7	TogoVar
NACAD_chr7_45075437_45093969	45084258	ACGGAGTC others(113): Show ACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAT CGTGGCTGCAGCCACAGGCTTTGGGGCTGATGAGAGATCTGTGTCTTGTA GGGGCAGAGGCGGTGTCATAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	254	0.0039	-120	c.180 others(9): Show c.1802_1921del	p.Ala others(13): Show p.Ala601_Ser640del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	1996/4836	1802/4689	601/1562		chr7	TogoVar
NACA_chr12_56707427_56730299	56717696	TAGACCTC others(131): Show TAGACCTCCTTTTAGGGAGGGAGGAGTTGCAGCTGGGGGAGTGGGGGCCC CTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGTTGCA GCTGGGGTTGTGGGGGCCCCTTTGGGGGATGGGGTAGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG02056.hp2 HG02257.hp1 others(10): Show HG01891.hp2 HG02056.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp2 HG02717.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG03540.hp2 HG06807.hp2 NA18942.hp2 NA19030.hp2	a0006 a0023 a0006 a0023	a0006c0005 a0023c0043 a0006c0005 a0023c0043	a0006c0005t0001 a0023c0043t0001 a0006c0005t0001 a0023c0043t0001	a0006c0005t0001g0006 a0006c0005t0001g0014 a0006c0005t0001g0084 others(2): Show a0006c0005t0001g0006 a0006c0005t0001g0014 a0006c0005t0001g0084 a0006c0005t0001g0087 a0023c0043t0001g0045	13	364	0.0357	-138	c.369 others(9): Show c.3696_3833del	p.Ala others(15): Show p.Ala1233_Leu1278del	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	3872/6387	3696/6237	1232/2078		chr12	TogoVar
NACA_chr12_56707427_56730299	56717735	AGTGGGGG others(62): Show AGTGGGGGCCCCTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGG GAGGAGTTGCAGCTGGGGTT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp2 HG01891.hp1 HG01978.hp2 others(15): Show HG00323.hp2 HG01891.hp1 HG01978.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp2 HG04199.hp1 HG04228.hp1 NA21309.hp1	a0004 a0011 a0026 others(2): Show a0004 a0011 a0026 a0028 a0039	a0004c0006 a0004c0009 a0011c0012 others(3): Show a0004c0006 a0004c0009 a0011c0012 a0026c0042 a0028c0047 a0039c0045	a0004c0006t0001 a0004c0009t0001 a0011c0012t0001 others(3): Show a0004c0006t0001 a0004c0009t0001 a0011c0012t0001 a0026c0042t0001 a0028c0047t0001 a0039c0045t0001	a0004c0006t0001g0009 a0004c0006t0001g0032 a0004c0006t0001g0033 others(7): Show a0004c0006t0001g0009 a0004c0006t0001g0032 a0004c0006t0001g0033 a0004c0006t0001g0089 a0004c0009t0001g0010 a0011c0012t0001g0025 a0011c0012t0001g0047 a0026c0042t0001g0044 a0028c0047t0001g0048 a0039c0045t0001g0086	18	363	0.0496	-69	c.372 others(78): Show c.3726_3794delAACCCCAGCTGCAACTCCTCCCTCCCCAAAAGGAGG CCCAGCTACCCCACCCCCCAAAGGGGCCCCCAC	p.Thr others(15): Show p.Thr1243_Thr1265del	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	3833/6387	3726/6237	1242/2078		chr12	TogoVar
NACA_chr12_56707427_56730299	56717735	AGTGGGGG others(131): Show AGTGGGGGCCCCTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGG GAGGAGTTGCAGCTGGGGTTGTGGGGGCCCCTTTGGGGGATGGGGTAGCC AGACCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0044 a0004c0044	a0004c0044t0001 a0004c0044t0001	a0004c0044t0001g0046 a0004c0044t0001g0046	1	346	0.0029	-138	c.365 others(9): Show c.3657_3794del	p.Thr others(15): Show p.Thr1220_Thr1265del	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	3833/6387	3657/6237	1219/2078		chr12	TogoVar
NACA_chr12_56707427_56730299	56717768	GCCTCCTT others(62): Show GCCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTTGTGGGGGCCCCTT TGGGGGATGGGGTAGCCAGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	363	0.0055	-69	c.369 others(78): Show c.3693_3761delTCTGGCTACCCCATCCCCCAAAGGGGCCCCCACAAC CCCAGCTGCAACTCCTCCCTCCCCAAAAGGAGG	p.Leu others(15): Show p.Leu1232_Gly1254del	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	3800/6387	3693/6237	1231/2078		chr12	TogoVar
NACA_chr12_56707427_56730299	56717768	GCCTCCTT others(131): Show GCCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTTGTGGGGGCCCCTT TGGGGGATGGGGTAGCCAGACCTCCTTTTGGGGAGGGAGGAGTTGCAGCT GGGGTTGTGGGGGCCCCTTTGGGGGATGGGGTAGCTAGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03130.hp1 HG03130.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0001 a0013c0020t0001	a0013c0020t0001g0027 a0013c0020t0001g0027	1	362	0.0028	-138	c.362 others(9): Show c.3624_3761del	p.Leu others(15): Show p.Leu1209_Gly1254del	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	3800/6387	3624/6237	1208/2078		chr12	TogoVar
NACA_chr12_56707427_56730299	56717834	CAGACCTC others(62): Show CAGACCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTTGTGGGGGCCC CTTTGGGGGATGGGGTAGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG01123.hp2 HG01433.hp2 others(13): Show HG00140.hp1 HG01123.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG02622.hp1 HG02647.hp1 HG02818.hp1 HG02965.hp1 HG03041.hp1 HG03195.hp2 HG03486.hp1 HG03834.hp2 NA18522.hp2 NA19079.hp1 NA19085.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0029	a0002c0002 a0003c0003 a0005c0004 others(1): Show a0002c0002 a0003c0003 a0005c0004 a0029c0024	a0002c0002t0001 a0003c0003t0001 a0005c0004t0001 others(1): Show a0002c0002t0001 a0003c0003t0001 a0005c0004t0001 a0029c0024t0001	a0002c0002t0001g0002 a0003c0003t0001g0004 a0003c0003t0001g0011 others(2): Show a0002c0002t0001g0002 a0003c0003t0001g0004 a0003c0003t0001g0011 a0005c0004t0001g0005 a0029c0024t0001g0067	16	363	0.0441	-69	c.362 others(78): Show c.3627_3695delAGCTACCCCATCCCCCAAAGGGGCCCCCACAACCCC AGCTGCAACTCCTCCCTCCCCAAAAGGAGGTCT	p.Ala others(15): Show p.Ala1210_Leu1232del	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	3734/6387	3627/6237	1209/2078		chr12	TogoVar
NACA_chr12_56707427_56730299	56718027	GGGGGTGG others(131): Show GGGGGTGGGGTAGCTAGACCTCCTTTTGGGGAAGGAGGAGTTGCAGCTGG GGTTGTGGGGGCCCCTTTTGGGGGTGGGGTAGCTAGACCTCCTTTTGGGG AGGGAGGAGTTGCAGCTGGGGTTGTGGGTGCCCCTTTGT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02056.hp1 HG02056.hp1	a0022 a0022	a0022c0027 a0022c0027	a0022c0027t0001 a0022c0027t0001	a0022c0027t0001g0069 a0022c0027t0001g0069	1	364	0.0027	-138	c.336 others(9): Show c.3365_3502del	p.His others(15): Show p.His1122_Pro1167del	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	3541/6387	3365/6237	1122/2078		chr12	TogoVar
NACA_chr12_56707427_56730299	56718096	GGGGGTGG others(62): Show GGGGGTGGGGTAGCTAGACCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGG GGTTGTGGGTGCCCCTTTGT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(186): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18987.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19072.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0008 a0009 others(13): Show a0001 a0008 a0009 a0010 a0014 a0016 a0018 a0020 a0021 a0025 a0027 a0029 a0030 a0031 a0034 a0038	a0001c0001 a0001c0014 a0001c0026 others(15): Show a0001c0001 a0001c0014 a0001c0026 a0008c0008 a0009c0007 a0010c0010 a0014c0013 a0016c0015 a0018c0035 a0020c0022 a0021c0025 a0025c0032 a0027c0031 a0029c0024 a0030c0034 a0031c0028 a0034c0021 a0038c0033	a0001c0001t0001 a0001c0014t0001 a0001c0026t0001 others(15): Show a0001c0001t0001 a0001c0014t0001 a0001c0026t0001 a0008c0008t0001 a0009c0007t0001 a0010c0010t0001 a0014c0013t0001 a0016c0015t0001 a0018c0035t0001 a0020c0022t0001 a0021c0025t0001 a0025c0032t0001 a0027c0031t0001 a0029c0024t0001 a0030c0034t0001 a0031c0028t0001 a0034c0021t0001 a0038c0033t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0014t0001g0029 a0001c0026t0001g0068 a0008c0008t0001g0013 a0009c0007t0001g0012 a0010c0010t0001g0023 a0010c0010t0001g0038 a0014c0013t0001g0028 a0016c0015t0001g0030 a0018c0035t0001g0080 a0020c0022t0001g0065 a0021c0025t0001g0061 a0025c0032t0001g0076 a0027c0031t0001g0075 a0029c0024t0001g0067 a0030c0034t0001g0077 a0031c0028t0001g0064 a0034c0021t0001g0078 a0038c0033t0001g0081	189	364	0.5192	-69	c.336 others(78): Show c.3365_3433delACAAAGGGGCACCCACAACCCCAGCTGCAACTCCTC CCTCCCCAAAAGGAGGTCTAGCTACCCCACCCC	p.His others(15): Show p.His1122_Pro1144del	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	3472/6387	3365/6237	1122/2078		chr12	TogoVar
NACA_chr12_56707427_56730299	56718542	GGGGGAGG others(131): Show GGGGGAGGGAGGAGTTGCAGCTGGGGGTGTGGGGGCCCCTTTGGGGGATG GAGTAGCTGGACCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGGTGTG GGGGCCCATTTCGGGGATGGGGTAGCTGGGCCTCCTTTA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00558.hp1 HG00558.hp1	a0019 a0019	a0019c0039 a0019c0039	a0019c0039t0001 a0019c0039t0001	a0019c0039t0001g0053 a0019c0039t0001g0053	1	364	0.0027	-138	c.285 others(9): Show c.2850_2987del	p.Lys others(13): Show p.Lys951_Pro996del	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	3026/6387	2850/6237	950/2078		chr12	TogoVar
NACC2_chr9_136001537_136100289	136050054	CGCGGCG CGCGGCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01175.hp2 HG01361.hp1 HG01433.hp1 others(2): Show HG01175.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG02258.hp2	a0004 a0004	a0004c0021 a0004c0031 a0004c0032 others(1): Show a0004c0021 a0004c0031 a0004c0032 a0004c0033	a0004c0021t0002 a0004c0031t0001 a0004c0032t0010 others(1): Show a0004c0021t0002 a0004c0031t0001 a0004c0032t0010 a0004c0033t0004	a0004c0021t0002g0282 a0004c0021t0002g0327 a0004c0031t0001g0305 others(2): Show a0004c0021t0002g0282 a0004c0021t0002g0327 a0004c0031t0001g0305 a0004c0032t0010g0040 a0004c0033t0004g0163	5	346	0.0145	-6	c.462 others(13): Show c.462_467delCGCCGC	p.Ala others(13): Show p.Ala155_Ala156del	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/6	627/6903	462/1764	154/587		chr9	TogoVar
NADK_chr1_1746232_1783470	1752908	CCCT CCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG02258.hp1 HG02895.hp2 others(3): Show HG00323.hp1 HG02258.hp1 HG02895.hp2 HG02976.hp2 HG03209.hp1 NA21309.hp1	a0005 a0005	a0005c0009 a0005c0010 a0005c0009 a0005c0010	a0005c0009t0005 a0005c0009t0007 a0005c0010t0007 others(1): Show a0005c0009t0005 a0005c0009t0007 a0005c0010t0007 a0005c0010t0024	a0005c0009t0005g0205 a0005c0009t0007g0174 a0005c0009t0007g0203 others(3): Show a0005c0009t0005g0205 a0005c0009t0007g0174 a0005c0009t0007g0203 a0005c0010t0007g0215 a0005c0010t0007g0240 a0005c0010t0024g0210	6	271	0.0221	-3	c.133 others(12): Show c.1334_1336delAGG	p.Glu others(6): Show p.Glu445del	NADK	ENSG00000008130.15	transcript	ENST00000341426.9	protein_coding	12/12	1558/3235	1334/1341	445/446		chr1	TogoVar
NALF1_chr13_107158510_107872496	107866367	CGCTGCTG others(5): Show CGCTGCTGCTGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01358.hp1 HG03491.hp1 NA18747.hp2 others(6): Show HG01358.hp1 HG03491.hp1 NA18747.hp2 NA18967.hp1 NA18995.hp2 NA18998.hp2 NA19010.hp1 NA19066.hp1 NA19066.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0006 a0002c0003t0007 others(4): Show a0002c0003t0003 a0002c0003t0006 a0002c0003t0007 a0002c0003t0008 a0002c0003t0077 a0002c0003t0082 a0002c0003t0089	a0002c0003t0003g0123 a0002c0003t0003g0124 a0002c0003t0006g0118 others(6): Show a0002c0003t0003g0123 a0002c0003t0003g0124 a0002c0003t0006g0118 a0002c0003t0006g0121 a0002c0003t0007g0126 a0002c0003t0008g0122 a0002c0003t0077g0125 a0002c0003t0082g0119 a0002c0003t0089g0120	9	128	0.0703	-12	c.218 others(19): Show c.218_229delAGCAGCAGCAGC	p.Gln others(11): Show p.Gln73_Gln76del	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/3	1129/9264	218/1377	73/458		chr13	TogoVar
NANOS1_chr10_119024714_119038730	119030272	TGCCGCCG others(26): Show TGCCGCCGCCGTGCTGCTGGGCTGCGCGCCCGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03654.hp2 HG03654.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0000 a0006c0009t0001g0000	1	402	0.0025	-33	c.482 others(40): Show c.482_514delTGCTGCTGGGCTGCGCGCCCGCCGCCGCCGCCG	p.Val others(13): Show p.Val161_Ala171del	NANOS1	ENSG00000188613.7	transcript	ENST00000425699.3	protein_coding	1/1	570/4017	482/879	161/292	INFO_REALIGN_3_PRIME	chr10	TogoVar
NANOS1_chr10_119024714_119038730	119030378	CCCCGGCT others(26): Show CCCCGGCTGCACGCGGCCTCCGGGGCGGCGGCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18982.hp1 NA18982.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0000 a0008c0010t0002g0000	1	402	0.0025	-33	c.587 others(40): Show c.587_619delACGCGGCCTCCGGGGCGGCGGCCGCCCGGCTGC	p.His others(13): Show p.His196_Leu206del	NANOS1	ENSG00000188613.7	transcript	ENST00000425699.3	protein_coding	1/1	675/4017	587/879	196/292	INFO_REALIGN_3_PRIME	chr10	TogoVar
NAP1L2_chrX_73207299_73219851	73213827	GTCC GTCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02647.hp1 HG02723.hp2 HG03041.hp1 HG02647.hp1 HG02723.hp2 HG03041.hp1	a0002 a0002	a0002c0004 a0002c0007 a0002c0004 a0002c0007	a0002c0004t0001 a0002c0007t0001 a0002c0004t0001 a0002c0007t0001	a0002c0004t0001g0000 a0002c0007t0001g0000 a0002c0004t0001g0000 a0002c0007t0001g0000	3	279	0.0108	-3	c.663 others(10): Show c.663_665delGGA	p.Glu others(6): Show p.Glu221del	NAP1L2	ENSG00000186462.9	transcript	ENST00000373517.4	protein_coding	1/1	1024/2553	663/1383	221/460		chrX	TogoVar
NAP1L5_chr4_88690913_88702829	88697681	TCCTCTGC others(5): Show TCCTCTGCCGCTG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp2 HG03688.hp1 HG01109.hp2 HG03688.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0005 a0002c0003t0002 a0002c0003t0005	a0002c0003t0002g0000 a0002c0003t0005g0000 a0002c0003t0002g0000 a0002c0003t0005g0000	2	412	0.0049	-12	c.62_ others(17): Show c.62_73delCAGCGGCAGAGG	p.Ala others(11): Show p.Ala21_Glu24del	NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding	1/1	148/1917	62/549	21/182		chr4	TogoVar
NBPF12_chr1_146933324_147001198	146994348	ATGGAAG ATGGAAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02145.hp2 HG02647.hp1 HG03453.hp2 HG02145.hp2 HG02647.hp1 HG03453.hp2	a0011 a0016 a0011 a0016	a0011c0043 a0011c0044 a0016c0042 a0011c0043 a0011c0044 a0016c0042	a0011c0043t0009 a0011c0044t0017 a0016c0042t0009 a0011c0043t0009 a0011c0044t0017 a0016c0042t0009	a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118	3	120	0.0250	-6	c.415 others(15): Show c.4154_4159delTGGAAG	p.Val others(15): Show p.Val1385_Glu1386del	NBPF12	ENSG00000268043.9	transcript	ENST00000698835.1	protein_coding	37/37	5592/7435	4154/4374	1385/1457	INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF14_chr1_148526385_148601011	148541084	ACTTCAGG others(5): Show ACTTCAGGCCCTT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01255.hp2 HG01255.hp2	a0057 a0057	a0057c0057 a0057c0057	a0057c0057t0001 a0057c0057t0001	a0057c0057t0001g0125 a0057c0057t0001g0125	1	220	0.0045	-12	c.751 others(21): Show c.7511_7522delAAGGGCCTGAAG	p.Lys others(21): Show p.Lys2504_Val2508delinsIle	NBPF14	ENSG00000270629.7	transcript	ENST00000619423.4	protein_coding	61/71	7714/10779	7511/8967	2504/2988		chr1	TogoVar
NBPF14_chr1_148526385_148601011	148548100	CTCT CTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01099.hp1 HG01109.hp2 HG01099.hp1 HG01109.hp2	a0024 a0024	a0024c0033 a0024c0033	a0024c0033t0001 a0024c0033t0001	a0024c0033t0001g0175 a0024c0033t0001g0176 a0024c0033t0001g0175 a0024c0033t0001g0176	2	220	0.0091	-3	c.643 others(12): Show c.6438_6440delAGA	p.Glu others(7): Show p.Glu2147del	NBPF14	ENSG00000270629.7	transcript	ENST00000619423.4	protein_coding	52/71	6632/10779	6438/8967	2146/2988		chr1	TogoVar
NBPF19_chr1_149470045_149561361	149522906	TGCAGGAC others(23): Show TGCAGGACTCACTGGATAGATGTTATTCGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp1 HG00558.hp1 NA18980.hp1 others(2): Show HG00438.hp1 HG00558.hp1 NA18980.hp1 NA19066.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0112 a0001c0001t0001g0156 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0112 a0001c0001t0001g0156 a0001c0001t0001g0174	5	274	0.0182	-30	c.643 others(39): Show c.6432_6461delGCAGGACTCACTGGATAGATGTTATTCGAC	p.Leu others(21): Show p.Leu2144_Thr2154delinsPhe	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	54/94	7218/13941	6432/11532	2144/3843		chr1	TogoVar
NBPF20_chr1_145285005_145430603	145305106	TTTCTTCC others(50): Show TTTCTTCCCCTTCTTCTTTCCTTCTTTGATCTTCTTCCCCTTCTTTTCTT CCCCTTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01358.hp2 NA19085.hp1 HG01358.hp2 NA19085.hp1	a0003 a0004 a0003 a0004	a0003c0002 a0004c0006 a0003c0002 a0004c0006	a0003c0002t0001 a0004c0006t0003 a0003c0002t0001 a0004c0006t0003	a0003c0002t0001g0003 a0004c0006t0003g0002 a0003c0002t0001g0003 a0004c0006t0003g0002	2	4	0.5000	-57	c.146 others(68): Show c.14630_14686delGGAAGGGGAAGAAAAGAAGGGGAAGAAGATCAAA GAAGGAAAGAAGAAGGGGAAGAA	p.Gly others(21): Show p.Gly4877_Lys4896delinsGlu	NBPF20	ENSG00000162825.18	transcript	ENST00000698833.1	protein_coding	126/143	15805/19578	14630/16938	4877/5645		chr1	TogoVar
NBPF8_chr1_120410035_120474676	120442949	ACCCCCAG others(6346): Show ACCCCCAGCTGGCAGAGAAGAAACAGCAGTTCGTAAACCTCAAAGAGAAA TGTTTTCTAACTCAACTGGCCGGCTTCCTGGCCAACCGACAGAAGAAATA CAGTAAGATCTATAGGCTCACCGTCATGAAAGTGATGAATGATGTCCTGT CTTCTCTCTGAGACACTAAATGCTCTCTCCATCAAAAATAATTTCATCCT TCCTGTACTTCTAGGAAAACAGAAATGGGTATTTTAACATTTTGTTAAAG TTGGAAGACAGAGGTACCAAAGTATTTAGCAACTTTCCATGTTTGCAATC AGATGGGGGTGGGACTAGAGTTAAACTCACAGTTATTGATTTCTAACACA GGCACAGAACGACCTGTTTTCTCCAAGAGGCTCAATCATGTTTTCAAGAA TCCTCTCTGTACCATATAAGATCCTGCAGACAAATAACATGTAGTCTGTT GTTCTAAATGTCTAGGACTAGTGAACTTTTATTCAGTTCAAGTTTCTGTT GAGGCCCAACAGGCAAAGCTCTGTTCTAGTGACTCTGAGGGGAACTTGGT GATAGTACCCAGTACCTGCTCTGAGGGGCTTCAAGAGGAGTCTGCTCCTA ATAGAACCTGTGCTATCTATAAGTGACAGCATCAAGAGCAGGGAGTAGGG GCCGTGCAACATGGCTCACTCCTGTAATCTCAGCACTTTGGGAGGCTGAG GCGGGCAGAGCACAAGGTCAGCAGTTTGAGACTAGCCTGGGCAACATGGA GAAACCCCATCTCCACTAAAAATACAAAAAGTAGATGGGCATCGTGGCGG GCAACTGTAATCACCACTAATCGGGAGGCTGAGGCAGAAGAATCCTTTGA ACCCAGCAGGCAGATGTTGCAGTGAGCCAAGATTGCACTATTGCACTCCA GCATGGGTGACAGGGCAAGACTCGTCAAAAAACAAACAAAACAAAAAGAT AAATAAATCAAAAATAAAAATAAAAAGCAGAGAGTAGCTTGGTGAGAGTG AAGTCCTGCTTCCTGGTGCACAGGCTCTTGTTCCTAAAGAGGAAGAAAGA TCACACCCGAGAATGTGTGGAAGCAGCAGTGCAGTGTGCAAAGCAGGGAC CCTCAGCCTGTCTCCTGGGCTCCATCCAAGTTCCTTGTCTTGTCTGTCCC TCAGTTTCCTCATCTGTTCAGAGGGTACTACAATAATACCTACCTCTGTA AATTGCTGCAATGAATTACATGAGGCATTTCCTGTCAATCTCCTTGAACA TTAATTGGCACAGTGTAAACACTATCTATTAGTTCTTCATTCTGATGTTT CTAAATTAACACAAACTAATCTTATGCTGTTTCTAAATTAACACAACGAA TCTAAATCTTAATGCTGCCTCTCATACTAATAAAGTATTTGGGCATATTT CCTTCATGGCCTTATTGTCTTATGTCTCACACTTTATGCTTCAGATATGA TTCTTAAAACCATATCTGAATATTGATTTAAAAATGAAATATTTTTAAAG TCCTTGACATATTTGTCCTTGAAATACCCAGTAAAAGGGAAACCATCAGT CCCATAGTCCTAGGGACCTTCCCGACTGTACAAGAAATCACTACTTCATG CCCCAGTGCAGTGTTTTAGAGGAGAGGCTGCAAGGCTTGGGAAAGTGGCC CCGCATTCAGAGTCAGACCTCAGGGGCTGTGAGTTCTGACTCCGCTTCGT TGTGGTTGAATCATCTTGTCAACTTCCTTGACGCGCCCTTGAGTTTCTCT TTCTTCGTCTTTAAATTTTGGAGGATCAGATGCCAGAAAGTCAGGAGACT GAAGAGTAAAGATGTGGAAATCCCTGTCTAGACCCTGGTACTGGGGAGAG TTTTGTCCTTGGGATGGACCTGGCTCCTGCCCTGTAGGCAGTGACCACAG CAGCATGTCCAGCCTTCCACTGAGGCAGGCGTGTCTGTCTTTTCTCAGAG TATGAAGAGTGTAAAGACCTCATAAGATTTATGCTGAGGAATGAGCGACA GTTCAAGGAGGAGAAGCTTGCAGAGCAGCTCAAGCAAGCTGAGGAGCTCA GGTGAGGGGAACCCGTAGGGGGAGGCAGGCGGGTAGGTGTGTAGATCTCT GAAGTACAGCAGCTCGGCGGGGAGAAGTAAGAATGAAGCTGGGCCAGGGG AAGGGCAGAAATTGCCATGGCAGGCTCATGACACACAAATATTTATCAGA GAACAAGGATAATAATAAGTTCTGTGTTGCAGTTGTTTCTTAGAGCCTTG TTTTCTCTTTTTCAAACAAGTAATTGTTGAGGTGAAATTTACATAACACA AAATTCACCAAAGGAGTGGGAACCACCCAGCAGCATTCAGTATAATCAAA ATGGTGTGCTATCGCCACCCCACTTACCCTTAGTGAGAATCACCTTCTGA CTGACTGCGTCTTCTCATTCTTTCACTCAATCAATGTTGCCTTCTTGACC CTGTCATTCTTTTCTTCTTTCATCTTTTCAATTCGCCCCATCTGCACCTG GCCTCATTTCTGTACATGACTTTGTATCTAGTGGCCGCAAGATGCACTAT GTGTATTTTCACATGGAAATGTCCATGGCCAGAGTGAGGAACTGAAAGGA TGTCTTTGAAATGGAATTAGGAAGACACCTACTTTTGTTTACAGAAGAGA AAGATGAATGGAACATCATCGAGGATCTTGCAGGAGCCCTCTCTGATACA GGGAAAGCCTGTAGACCATTTTCTGTTCTTTCTCTTGGCCACAGACATTC CTTTCAACATGTGCTGACCTTCTGCTTGAAGGTCTCCTTGTGAACATTGT CTCAGAAATCTCTGTTGCAATATTTGAACGGATCACTCAACCCTTTCTAC TCTTAAATTTTCTCTACCATCTCACCTTAGGCAATATAAAGTCCTGGTTC ACTCTCAGGAACGAGAGCTGACGCAGTTAAAGGAGAAGTTACAGGAAGGG AGAGATGCCTCCCGCTCATTGAATGAGCATCTCCAGGCCCTCCTCACTCT GGATGAGCCGGACAAGTCCCAGGGGCAGGACCTCCAAGAACAGCTGGCTG AGGGGTGTAGACTGGCACAGCACCTTGTCCAAAAGCTCAGCCCAGGTAAG GTGGCCATAGGCCCTGATGACCCAAAACCCCAGGCTTATGAGAGGCTCCA GACCTCCATACTTTCACAATGACAGTTGTATCAGTGGGGTTTTTTTCTGC TACACCTATGTGGCCATGACATGACCAGGACTTCCTGGGTAAGAACAGAG ATGGGAAACCCATGGTTTGGAGGTCACAGTATTGCAAGTGTCCCTCCTTC CTTGATGGAAGGTGGTCTTTGGAGCAAGAGGCAGCATCTATCTAGTTTTA AAGGACAAGAAGGAGGCTGTGATGGGAGGGCGCTTGTTGGAGTGAAAAGA GCTCTGGGCTAAGAATGAAGGTTCCCAGGCTGTCTTTTTGGCAATGTTCT TAGTAAGTGTCGGTGAGTGAGTGATTTATCTTTCCAGAGTTTCTCTCTCT CCATCTGCAAAGGCAGACAAATTGTCTCTTGCAAGGGTCTGAAGCATCCA AATATGGGAACACTTACGAATGCTTTTCAAAATGAGATGAAGCCCCTCTC CATGTGGTGTTGGAGAAGGCACTTGATGTGGGGGCATTTGGTGGTAGGAA GTGCTTCAGACTGGAGCACTCCCCATGGATAGAATGTCCCTGAATAACAC AGCAGAAGCCACATGGAGGGCCTGTGCAGTCTCATGACGCATAGAGGACT GTGGGACAAGTTTGTCCTCTCCTAAGAGAAAGAATGAGGTTTGAAATGCG AACTGTGACAGGACACCAAGCCTGTTCCTGGGAATCAGATCTGTGGCAGG ATGGGGGAGACAGCTGCCAAAGTCCAGAGAGAGGCTACACAAGCCTCCAG TGATATGGGAAGCAAAAGGTCTTTTCAGTATTTGGCCACATCTTGATGGT GGCCCTCCACATCAGAAATGCATTGCCCGATGGACCAGGAAACCATGCCA GGGCATTTTGTGAAAGATAAAACATGAGAGTTTTCAGTACAATGCTGAAC CATACATAGATGTTCATGTCTCTGTGCACGTTGGGCTGACTGTGCTTGCA GAATGTGAAGTGGGAAATATCTGAACGAACATTTTGTATTTATAAAAAAT GACGAAGATGAGGATGAAGATGTTCAAGTTGAGGAGGATGAGAAAGTGCA GAAATCATCTGCCCCCAGGTAACACTGAATACTCAGGAGCAAGTAATGGG TGGTAACATATGAAAATGTCTAGGAGGCACACCCTCTCTGGCATCTATGG TGGACCAAAAGCCCGCATCCCCTTGGCCACAGTATGTGAAATTGAACCCA GCTTAGACACAGGGTGCGGCAGCTGTCGTGTTTCTCTATGTGTGCCAAGT GTCATGTCTGTACCATACAGGGATAGCTGAGTCTTCATCCTCCTCAGCTC CTATCTGTCCAGTGCACTGAATACCAGCTGCTCTCTTCCTCTCTGGCTCC CATGGCAGCCATGGTCTGTTGCAGAGAGAAGAGGATTGCCTGTTTCCTCT TTAAGGGAACCTCCATTTTGCTTTCTGGAACCACTCTCTTAATGCCACCT GTCAAAACCAGCTAGGACTCCCTGGGGTCCAATCCCTCTGTGTTTAATCT TCTGTCATCTCTGTCCCACCTGGCTCATCAGGGAGGTGCAGAAGGCTGAA GAGAGCAAAGTCCCTGAGGACTCACTGGAGGAATGTGCCATCACTTGTTC AAATAGCCACGGCCCTTGTGACTTCAACCAGCCTCACAAGAACATCAAAA TCACATTTGAGGAAGACGAAGTCAACTCAACTCTGGTTGTAGACAGAGAA TCCTCTCATGATGAATGTCAGGATGCTCTAAACATTCTCTCAGGTAGCCT CTATTTTCCTTGTGTCTCATACCTCTGTCTAGGCTATGGAAGATTAATTC TGAGGACAGGCTGTATATACACATATTGTTATTGTTTTAGTCAGAAACTA GGATGGAGCTAGGTGCTGTGACTCACACATATAATCACAGCACTTTGGAA GGCCCAAGTGGGACGATGACTTGAGTTCAGGAGTTGAAGACCAGCCTGGA CAATATGGTGAAACCCATCTTTACAAAGAATACAAAAAATTAGGCAGGCA TGGTGCTGCATGCCTATAGTCCCAACTGCTCAGGAGACTTAGGTGGGAGG ATCGGCTGAGACGATCCTCCCACGCTCGTTCACTCCTCTCAGGCTAGACT CTCTCTCCTTTTCATTGGCTTGTCTTAGCTATTAATAAGAAGTCTCGGCC TGGCGCGGTGGCTCACACATGTAATCCGAGCACTTTGGGAGGCCGGGGCG GGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAA ACGCCGTCTTTACTAAAAATACAAAAAAAAAAAAAAAATTAGCTGGGCGC GGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAA TGGCATGAACCCAGGAACCGGAGCTTGCAGTGAGCCGAGATTGTGCCACT GCACTCCAGCCTGGGAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGTA AGTCTCTGACCAGGGGCGCTGGCTCACATCTTAATCCCAGCACTTTGGGA GGCTGAGGTGGGCAGAACACCTGAGGTCAGGAGTTCGAAACCAGCCTGTC CAAGATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGCAT GTTACTTGGCGCTTGTAATCCCAGATGCTTGGCAGGCTGAGGGATGAGAA TCGCTTGAACCCGGGCGGCAGAGGTGGCAGTGAGCTGAGATTGTGCCTCT GCACTGCAGCCTGCACGACAGAGTGAGACTCCGTCTCAAACAAAAAACAA AAAACCAAAAAAGAAAAAAATTAAAAAAGCAAAATGAAATCTTTTGTGCT ACACAGAAACATTGGCCACTCATGGGGTAAAAATCTCAGGGCCAAGCCTT GCTTTATAGAAACTTATAAGCAAGAAAAGTGTAGAAGTGTTTATGTCCTG GTTTCAAGGTGACTGCATAGCTGAGACAAGTTGACTTAAAGGAGATCAAG ACTGGAGATGACAAGAGTGAAACCAGGGAAACATCATCTTCAAATAAGTA AACAAGGCTGCCAGTGACATCCCTCAGTCCTGATTAAGCCTATTTGATTT CACCAGTTTTTAACCCATCATGTGTTTGCCTTTCTTCTCCCCAGTCCCTG GCCCCACCTCTTCTGCCACAAACGTCAGCATGGTGGTATCAGCCGGCCCT TTGTCCAGCGAGAAGGCAGAGATGAACATTCTAGAAATCAATGAGAAATT GCAC	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0040 a0002c0001t0002g0040	1	290	0.0034	-6353	c.778 others(12): Show c.778+1465_892del	p.Val others(19): Show p.Val260_Gln298delinsGlu	NBPF8	ENSG00000270231.5	transcript	ENST00000698216.1	protein_coding	9/23		779/2829	260/942	INFO_REALIGN_3_PRIME	chr1	TogoVar
NCL_chr2_231448531_231469484	231460685	TTCC TTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp1 HG03471.hp1 HG06807.hp2 others(1): Show HG02280.hp1 HG03471.hp1 HG06807.hp2 NA20300.hp1	a0003 a0003	a0003c0009 a0003c0010 a0003c0009 a0003c0010	a0003c0009t0009 a0003c0010t0014 a0003c0009t0009 a0003c0010t0014	a0003c0009t0009g0050 a0003c0010t0014g0043 a0003c0009t0009g0050 a0003c0010t0014g0043	4	460	0.0087	-3	c.792 others(10): Show c.792_794delGGA	p.Glu others(6): Show p.Glu265del	NCL	ENSG00000115053.17	transcript	ENST00000322723.9	protein_coding	4/14	925/3924	792/2133	264/710		chr2	TogoVar
NCL_chr2_231448531_231469484	231460694	CTCATCAT others(8): Show CTCATCATCTTCATCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18963.hp2 NA18963.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0004 a0008c0015t0004	a0008c0015t0004g0131 a0008c0015t0004g0131	1	460	0.0022	-15	c.771 others(22): Show c.771_785delTGATGAAGATGATGA	p.Asp others(13): Show p.Asp257_Asp261del	NCL	ENSG00000115053.17	transcript	ENST00000322723.9	protein_coding	4/14	916/3924	771/2133	257/710		chr2	TogoVar
NCL_chr2_231448531_231469484	231460703	TTCA TTCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00438.hp2 HG00544.hp1 others(68): Show HG00140.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG01109.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01952.hp2 HG01981.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp1 HG02155.hp2 HG02293.hp2 HG02523.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03704.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18970.hp1 NA18974.hp2 NA18983.hp1 NA18988.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19059.hp1 NA19063.hp2 NA19072.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0017 a0001c0001 a0001c0002 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0033 a0001c0002t0005 a0001c0002t0013 a0001c0017t0004	a0001c0001t0001g0024 a0001c0001t0001g0132 a0001c0001t0001g0143 others(29): Show a0001c0001t0001g0024 a0001c0001t0001g0132 a0001c0001t0001g0143 a0001c0001t0002g0031 a0001c0001t0002g0136 a0001c0001t0002g0147 a0001c0001t0003g0012 a0001c0001t0003g0146 a0001c0001t0004g0004 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0135 a0001c0001t0004g0139 a0001c0001t0004g0142 a0001c0001t0004g0145 a0001c0001t0004g0148 a0001c0001t0004g0172 a0001c0001t0006g0134 a0001c0001t0007g0051 a0001c0001t0007g0133 a0001c0001t0007g0157 a0001c0001t0008g0141 a0001c0001t0009g0023 a0001c0001t0010g0137 a0001c0001t0011g0138 a0001c0001t0011g0169 a0001c0001t0015g0127 a0001c0001t0016g0158 a0001c0001t0033g0144 a0001c0002t0005g0041 a0001c0002t0013g0079 a0001c0017t0004g0140	71	459	0.1547	-3	c.774 others(10): Show c.774_776delTGA	p.Asp others(6): Show p.Asp258del	NCL	ENSG00000115053.17	transcript	ENST00000322723.9	protein_coding	4/14	907/3924	774/2133	258/710		chr2	TogoVar
NCL_chr2_231448531_231469484	231460748	GTCC GTCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18950.hp1 NA19006.hp2 NA19080.hp2 NA18950.hp1 NA19006.hp2 NA19080.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0025 a0005c0005t0001g0025	3	460	0.0065	-3	c.729 others(10): Show c.729_731delGGA	p.Glu others(6): Show p.Glu243del	NCL	ENSG00000115053.17	transcript	ENST00000322723.9	protein_coding	4/14	862/3924	729/2133	243/710		chr2	TogoVar
NCOA3_chr20_47496887_47661872	47651070	TGCAGCAG others(2): Show TGCAGCAGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(26): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00735.hp1 HG01106.hp1 HG01168.hp2 HG01261.hp1 HG01346.hp2 HG02071.hp2 HG02074.hp1 HG02280.hp1 HG02523.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 NA18612.hp1 NA18939.hp1 NA18947.hp1 NA18951.hp2 NA19057.hp2 NA19064.hp1 NA19077.hp2 NA20805.hp2	a0003 a0010 a0003 a0010	a0003c0004 a0003c0009 a0003c0022 others(1): Show a0003c0004 a0003c0009 a0003c0022 a0010c0019	a0003c0004t0003 a0003c0004t0020 a0003c0004t0028 others(3): Show a0003c0004t0003 a0003c0004t0020 a0003c0004t0028 a0003c0009t0003 a0003c0022t0003 a0010c0019t0003	a0003c0004t0003g0091 a0003c0004t0003g0092 a0003c0004t0003g0100 others(26): Show a0003c0004t0003g0091 a0003c0004t0003g0092 a0003c0004t0003g0100 a0003c0004t0003g0135 a0003c0004t0003g0136 a0003c0004t0003g0137 a0003c0004t0003g0138 a0003c0004t0003g0140 a0003c0004t0003g0145 a0003c0004t0003g0146 a0003c0004t0003g0147 a0003c0004t0003g0166 a0003c0004t0003g0179 a0003c0004t0003g0198 a0003c0004t0003g0199 a0003c0004t0003g0200 a0003c0004t0003g0205 a0003c0004t0003g0292 a0003c0004t0003g0294 a0003c0004t0003g0300 a0003c0004t0020g0173 a0003c0004t0020g0290 a0003c0004t0028g0149 a0003c0009t0003g0169 a0003c0009t0003g0170 a0003c0009t0003g0177 a0003c0009t0003g0178 a0003c0022t0003g0139 a0010c0019t0003g0167	29	314	0.0924	-9	c.375 others(18): Show c.3753_3761delGCAGCAGCA	p.Gln others(15): Show p.Gln1252_Gln1254del	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	20/23	3984/7961	3753/4275	1251/1424	INFO_REALIGN_3_PRIME	chr20	TogoVar
NCOA3_chr20_47496887_47661872	47651092	ACAG ACAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp2 HG00544.hp2 HG00558.hp2 others(68): Show HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG02027.hp1 HG02056.hp1 HG02080.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02630.hp2 HG02683.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG03139.hp2 HG03471.hp2 HG03491.hp2 HG03834.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18949.hp1 NA18953.hp2 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18992.hp1 NA19001.hp2 NA19010.hp2 NA19012.hp1 NA19060.hp2 NA19070.hp2 NA19079.hp1 NA19080.hp1 NA19086.hp2 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0002 a0004 a0012 a0002 a0004 a0012	a0002c0002 a0002c0023 a0004c0006 others(1): Show a0002c0002 a0002c0023 a0004c0006 a0012c0020	a0002c0002t0002 a0002c0002t0008 a0002c0002t0009 others(10): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0009 a0002c0002t0018 a0002c0002t0019 a0002c0002t0035 a0002c0002t0040 a0002c0002t0043 a0002c0023t0008 a0004c0006t0006 a0004c0006t0025 a0004c0006t0026 a0012c0020t0002	a0002c0002t0002g0089 a0002c0002t0002g0099 a0002c0002t0002g0103 others(68): Show a0002c0002t0002g0089 a0002c0002t0002g0099 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0125 a0002c0002t0002g0127 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0134 a0002c0002t0002g0153 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0185 a0002c0002t0002g0190 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0204 a0002c0002t0002g0214 a0002c0002t0002g0247 a0002c0002t0002g0280 a0002c0002t0008g0093 a0002c0002t0008g0094 a0002c0002t0009g0037 a0002c0002t0009g0046 a0002c0002t0009g0047 a0002c0002t0009g0048 a0002c0002t0009g0058 a0002c0002t0009g0059 a0002c0002t0018g0186 a0002c0002t0018g0188 a0002c0002t0018g0189 a0002c0002t0019g0060 a0002c0002t0019g0061 a0002c0002t0035g0096 a0002c0002t0040g0154 a0002c0002t0043g0116 a0002c0023t0008g0095 a0004c0006t0006g0080 a0004c0006t0006g0081 a0004c0006t0006g0082 a0004c0006t0006g0083 a0004c0006t0006g0085 a0004c0006t0006g0086 a0004c0006t0006g0087 a0004c0006t0006g0098 a0004c0006t0025g0090 a0004c0006t0026g0084 a0012c0020t0002g0184	71	305	0.2328	-3	c.378 others(12): Show c.3789_3791delGCA	p.Gln others(7): Show p.Gln1264del	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	20/23	4020/7961	3789/4275	1263/1424	INFO_REALIGN_3_PRIME	chr20	TogoVar
NCOA3_chr20_47496887_47661872	47651119	GCAA GCAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01106.hp2 HG01358.hp1 HG01884.hp2 others(11): Show HG01106.hp2 HG01358.hp1 HG01884.hp2 HG02572.hp2 HG02818.hp1 HG02922.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0008 a0001c0001t0013 a0006c0008t0014 a0001c0001t0008 a0001c0001t0013 a0006c0008t0014	a0001c0001t0008g0025 a0001c0001t0008g0029 a0001c0001t0008g0030 others(11): Show a0001c0001t0008g0025 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0013g0001 a0001c0001t0013g0101 a0001c0001t0013g0102 a0001c0001t0013g0222 a0001c0001t0013g0276 a0006c0008t0014g0032 a0006c0008t0014g0033 a0006c0008t0014g0035 a0006c0008t0014g0036 a0006c0008t0014g0068	14	313	0.0447	-3	c.379 others(12): Show c.3792_3794delACA	p.Gln others(7): Show p.Gln1265del	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	20/23	4023/7961	3792/4275	1264/1424	INFO_REALIGN_3_PRIME	chr20	TogoVar
NCOA6_chr20_34709774_34830651	34768450	GTGGGAGG others(12): Show GTGGGAGGTCTTACCTGGAC	G G	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA19003.hp2 NA19003.hp2	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0001 a0010c0008t0001	a0010c0008t0001g0216 a0010c0008t0001g0216	1	288	0.0035	-19	c.509 others(29): Show c.509_514+13delGTCCAGGTAAGACCTCCCA	p.Pro others(13): Show p.Pro171_Gly172del	NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	5/15		509/6192	170/2063		chr20	TogoVar
NCOR2_chr12_124319415_124572612	124402512	GGCTGCTG others(2): Show GGCTGCTGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02027.hp1 NA18966.hp1 NA19009.hp2 others(2): Show HG02027.hp1 NA18966.hp1 NA19009.hp2 NA19067.hp2 NA19070.hp1	a0011 a0028 a0011 a0028	a0011c0037 a0011c0128 a0011c0156 others(1): Show a0011c0037 a0011c0128 a0011c0156 a0028c0127	a0011c0037t0002 a0011c0037t0050 a0011c0128t0007 others(2): Show a0011c0037t0002 a0011c0037t0050 a0011c0128t0007 a0011c0156t0007 a0028c0127t0004	a0011c0037t0002g0083 a0011c0037t0050g0082 a0011c0128t0007g0155 others(2): Show a0011c0037t0002g0083 a0011c0037t0050g0082 a0011c0128t0007g0155 a0011c0156t0007g0190 a0028c0127t0004g0009	5	76	0.0658	-9	c.152 others(18): Show c.1523_1531delAGCAGCAGC	p.Gln others(13): Show p.Gln508_Gln510del	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	16/49	2000/9001	1523/7545	508/2514		chr12	TogoVar
NCOR2_chr12_124319415_124572612	124402512	GGCTGCTG others(5): Show GGCTGCTGCTGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02572.hp1 NA19011.hp2 HG02572.hp1 NA19011.hp2	a0016 a0030 a0016 a0030	a0016c0157 a0030c0129 a0016c0157 a0030c0129	a0016c0157t0001 a0030c0129t0038 a0016c0157t0001 a0030c0129t0038	a0016c0157t0001g0131 a0030c0129t0038g0189 a0016c0157t0001g0131 a0030c0129t0038g0189	2	73	0.0274	-12	c.152 others(21): Show c.1520_1531delAGCAGCAGCAGC	p.Gln others(13): Show p.Gln507_Gln510del	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	16/49	2000/9001	1520/7545	507/2514		chr12	TogoVar
NCR1_chr19_54901148_54918073	54912835	GGAA GGAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp2 HG02056.hp2 HG02074.hp2 others(23): Show HG00738.hp2 HG02056.hp2 HG02074.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18952.hp1 NA18952.hp2 NA18967.hp2 NA18971.hp1 NA18972.hp1 NA18986.hp2 NA18988.hp1 NA18992.hp2 NA18998.hp2 NA18999.hp2 NA19063.hp2 NA19080.hp1 NA19088.hp2 NA19090.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0006 a0003c0004t0009 a0003c0004t0005 a0003c0004t0006 a0003c0004t0009	a0003c0004t0005g0007 a0003c0004t0006g0007 a0003c0004t0006g0019 others(8): Show a0003c0004t0005g0007 a0003c0004t0006g0007 a0003c0004t0006g0019 a0003c0004t0006g0042 a0003c0004t0006g0102 a0003c0004t0006g0111 a0003c0004t0006g0112 a0003c0004t0006g0122 a0003c0004t0006g0127 a0003c0004t0009g0103 a0003c0004t0009g0106	26	456	0.0570	-3	c.881 others(10): Show c.881_883delAAG	p.Glu others(6): Show p.Glu294del	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding	7/7	921/1157	881/915	294/304	INFO_REALIGN_3_PRIME	chr19	TogoVar
NEFH_chr22_29475218_29496390	29489788	AAAGTCCC others(11): Show AAAGTCCCCTGAGAAGGCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA20300.hp2 NA20300.hp2	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0002 a0017c0027t0002	a0017c0027t0002g0128 a0017c0027t0002g0128	1	446	0.0022	-18	c.215 others(27): Show c.2157_2174delTGAGAAGGCCAAGTCCCC	p.Glu others(13): Show p.Glu720_Pro725del	NEFH	ENSG00000100285.10	transcript	ENST00000310624.7	protein_coding	4/4	2202/3795	2157/3063	719/1020	INFO_REALIGN_3_PRIME	chr22	TogoVar
NEFH_chr22_29475218_29496390	29489869	AGCTAAGT others(11): Show AGCTAAGTCCCCAGAGAAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG00544.hp1 HG00558.hp2 others(23): Show HG00423.hp2 HG00544.hp1 HG00558.hp2 HG01981.hp2 HG02080.hp2 HG02132.hp1 HG02523.hp1 NA18940.hp2 NA18942.hp2 NA18950.hp2 NA18963.hp2 NA18964.hp1 NA18973.hp2 NA18985.hp1 NA18987.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19054.hp2 NA19070.hp2 NA19077.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19089.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0004 a0004c0004t0001g0006 a0004c0004t0001g0026 others(6): Show a0004c0004t0001g0004 a0004c0004t0001g0006 a0004c0004t0001g0026 a0004c0004t0001g0045 a0004c0004t0001g0046 a0004c0004t0001g0083 a0004c0004t0001g0084 a0004c0004t0001g0085 a0004c0004t0001g0099	26	446	0.0583	-18	c.223 others(27): Show c.2232_2249delTAAGTCCCCAGAGAAGGC	p.Lys others(13): Show p.Lys745_Ala750del	NEFH	ENSG00000100285.10	transcript	ENST00000310624.7	protein_coding	4/4	2277/3795	2232/3063	744/1020	INFO_REALIGN_3_PRIME	chr22	TogoVar
NELFE_chr6_31947087_31963971	31954568	CTCTCGG CTCTCGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG02145.hp2 HG02486.hp2 others(8): Show HG01891.hp2 HG02145.hp2 HG02486.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	11	444	0.0248	-6	c.723 others(13): Show c.723_728delCCGAGA	p.Asp others(13): Show p.Asp241_Arg242del	NELFE	ENSG00000204356.14	transcript	ENST00000375429.8	protein_coding	7/11	816/1445	723/1143	241/380		chr6	TogoVar
NFKB2_chr10_102390705_102407524	102397259	GAAAGAAC others(40): Show GAAAGAACTGCATGGCCAAAGGCCTCCGATTCTCTCTTCTCAGATTTA	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18979.hp1 NA18979.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0037 a0007c0008t0001g0037	1	422	0.0024	-47	c.396 others(57): Show c.396-41_401delAAGAACTGCATGGCCAAAGGCCTCCGATTCTCTCT TCTCAGATTTAA	p.Gln others(19): Show p.Gln132_Asn134delinsHis	NFKB2	ENSG00000077150.21	transcript	ENST00000661543.1	protein_coding	7/23		396/2703	132/900	INFO_REALIGN_3_PRIME	chr10	TogoVar
NHS_chrX_17370200_17740994	17375961	ACCG ACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01106.hp1 HG02622.hp2 HG02723.hp2 others(3): Show HG01106.hp1 HG02622.hp2 HG02723.hp2 HG02922.hp1 HG03453.hp2 HG03471.hp1	a0003 a0010 a0003 a0010	a0003c0006 a0003c0009 a0010c0010 a0003c0006 a0003c0009 a0010c0010	a0003c0006t0001 a0003c0006t0002 a0003c0006t0005 others(2): Show a0003c0006t0001 a0003c0006t0002 a0003c0006t0005 a0003c0009t0002 a0010c0010t0003	a0003c0006t0001g0157 a0003c0006t0001g0162 a0003c0006t0002g0161 others(3): Show a0003c0006t0001g0157 a0003c0006t0001g0162 a0003c0006t0002g0161 a0003c0006t0005g0159 a0003c0009t0002g0160 a0010c0010t0003g0158	6	164	0.0366	-3	c.216 others(10): Show c.216_218delGCC	p.Pro others(5): Show p.Pro73del	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/9	774/9044	216/4956	72/1651	INFO_REALIGN_3_PRIME	chrX	TogoVar

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