Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NAIP_chr5_70963166_71030339	71000545	A A	AATAATTA others(8): Show AATAATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	141	0.0071	15	c.922 others(32): Show c.922+1152_922+1153insAATAATAATAATTAT	NAIP	ENSG00000249437.8	transcript	ENST00000517649.6	protein_coding	8/16			chr5	TogoVar
NALCN_chr13_101048776_101421508	101300363	T T	TTCCTTCC others(8): Show TTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0166 a0005c0016t0001g0166	1	176	0.0057	15	c.800 others(32): Show c.800-7998_800-7997insGGAAGGAAGGAAGGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	7/43			chr13	TogoVar
NALF1_chr13_107158510_107872496	107254062	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG03098.hp1 others(1): Show HG00642.hp2 HG01109.hp1 HG03098.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0063 a0001c0001t0070 a0001c0001t0087 others(1): Show a0001c0001t0063 a0001c0001t0070 a0001c0001t0087 a0001c0002t0017	a0001c0001t0063g0034 a0001c0001t0070g0048 a0001c0001t0087g0105 others(1): Show a0001c0001t0063g0034 a0001c0001t0070g0048 a0001c0001t0087g0105 a0001c0002t0017g0002	4	128	0.0313	15	c.916 others(34): Show c.916-43308_916-43307insATATATATTTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107299435	C C	CAATAATA others(8): Show CAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03209.hp2 HG00642.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0070 a0001c0001t0063 a0001c0001t0070	a0001c0001t0063g0034 a0001c0001t0070g0048 a0001c0001t0063g0034 a0001c0001t0070g0048	2	128	0.0156	15	c.916 others(34): Show c.916-88695_916-88681dupATTATTATTATTATT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107390877	T T	TTAATAAT others(8): Show TTAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01358.hp1 HG03209.hp1 others(1): Show HG00642.hp1 HG01358.hp1 HG03209.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0011 a0001c0001t0055 a0001c0001t0095 others(1): Show a0001c0001t0011 a0001c0001t0055 a0001c0001t0095 a0002c0003t0003	a0001c0001t0011g0057 a0001c0001t0055g0067 a0001c0001t0095g0127 others(1): Show a0001c0001t0011g0057 a0001c0001t0055g0067 a0001c0001t0095g0127 a0002c0003t0003g0123	4	128	0.0313	15	c.916 others(36): Show c.916-180137_916-180123dupTTATTATTATTATTA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107438827	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01071.hp2 HG02976.hp1 others(6): Show HG00323.hp1 HG01071.hp2 HG02976.hp1 HG03139.hp1 NA18747.hp1 NA18995.hp2 NA19002.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0009 a0001c0001t0042 others(6): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0042 a0001c0001t0047 a0001c0001t0058 a0001c0001t0068 a0001c0001t0084 a0001c0002t0067 a0002c0003t0006	a0001c0001t0002g0053 a0001c0001t0009g0012 a0001c0001t0042g0044 others(6): Show a0001c0001t0002g0053 a0001c0001t0009g0012 a0001c0001t0042g0044 a0001c0001t0047g0069 a0001c0001t0058g0024 a0001c0001t0068g0030 a0001c0001t0084g0110 a0001c0002t0067g0075 a0002c0003t0006g0121	9	128	0.0703	15	c.916 others(36): Show c.916-228087_916-228073dupTTTTTTTTTTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107586635	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01109.hp1 others(22): Show HG00323.hp1 HG00642.hp2 HG01109.hp1 HG01943.hp2 HG01993.hp2 HG02056.hp1 HG02280.hp1 HG02486.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18993.hp1 NA18993.hp2 NA19030.hp1 NA19066.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0025 a0001c0001t0033 a0001c0001t0054 a0001c0001t0060 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0002t0013 a0001c0002t0017 a0001c0002t0034 a0001c0002t0050 a0001c0002t0064 a0001c0002t0067 a0001c0002t0072 a0002c0003t0008	a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0002g0058 others(22): Show a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0002g0058 a0001c0001t0010g0035 a0001c0001t0014g0049 a0001c0001t0015g0099 a0001c0001t0025g0005 a0001c0001t0033g0019 a0001c0001t0054g0045 a0001c0001t0060g0064 a0001c0001t0069g0031 a0001c0001t0070g0048 a0001c0001t0071g0051 a0001c0001t0084g0110 a0001c0001t0085g0101 a0001c0001t0086g0117 a0001c0001t0087g0105 a0001c0002t0013g0082 a0001c0002t0017g0002 a0001c0002t0034g0022 a0001c0002t0050g0080 a0001c0002t0064g0078 a0001c0002t0067g0075 a0001c0002t0072g0083 a0002c0003t0008g0122	25	128	0.1953	15	c.915 others(36): Show c.915+279046_915+279047insAAAAAAAAAAAAAAA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107823977	G G	GTTATTAT others(8): Show GTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0030 a0001c0001t0068g0030	1	128	0.0078	15	c.915 others(34): Show c.915+41690_915+41704dupTAATAATAATAATAA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107851805	C C	CATTTTTT others(8): Show CATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18969.hp2 NA18747.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0053 a0001c0001t0005g0060 a0001c0001t0002g0053 a0001c0001t0005g0060	2	128	0.0156	15	c.915 others(34): Show c.915+13876_915+13877insAAAAAAAAAAAAAAT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NAMPT_chr7_106243298_106289983	106258271	A A	AAATACTG others(8): Show AAATACTGTTTGATTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0152 a0001c0001t0001g0154	2	336	0.0060	15	c.108 others(34): Show c.1089+3302_1089+3316dupAAATCAAACAGTATT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	8/10			chr7	TogoVar
NAMPT_chr7_106243298_106289983	106267840	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02559.hp1 HG03491.hp1 others(2): Show HG01069.hp2 HG02559.hp1 HG03491.hp1 NA18954.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0078 a0001c0001t0001g0113 a0001c0001t0001g0142 others(2): Show a0001c0001t0001g0078 a0001c0001t0001g0113 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0002t0002g0254	5	336	0.0149	15	c.743 others(30): Show c.743+609_743+623dupTTTTTTTTTTTTTTT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NAMPT_chr7_106243298_106289983	106267855	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0112 a0001c0001t0013g0112	1	336	0.0030	15	c.743 others(30): Show c.743+608_743+609insGTTTTTTTTTTTTTT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NANOGNB_chr12_7760216_7779121	7765569	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0091 a0003c0003t0001g0091	1	460	0.0022	15	c.102 others(30): Show c.102+188_102+202dupAAAAAAAAAAAAAAA	NANOGNB	ENSG00000205857.2	transcript	ENST00000382119.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NANOS1_chr10_119024714_119038730	119029776	G G	GGCGGGGA others(8): Show GGCGGGGAGGCGGCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0000 a0001c0001t0023g0000	1	404	0.0025	15	c.-22 others(22): Show c.-22_-21insGGAGGCGGCGCGCGG	NANOS1	ENSG00000188613.7	transcript	ENST00000425699.3	protein_coding	1/1	21	INFO_REALIGN_3_PRIME	chr10	TogoVar
NAPA_chr19_47482637_47520063	47490646	C C	CAAACAAA others(8): Show CAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG00673.hp1 others(37): Show HG00408.hp1 HG00642.hp1 HG00673.hp1 HG01433.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02293.hp2 HG02523.hp2 HG04184.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18954.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18997.hp2 NA19002.hp2 NA19010.hp1 NA19055.hp1 NA19056.hp2 NA19065.hp1 NA19066.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0027 others(29): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0232 a0001c0003t0002g0131	40	338	0.1183	15	c.735 others(30): Show c.735+127_735+141dupTGTTTTGTTTTGTTT	NAPA	ENSG00000105402.8	transcript	ENST00000263354.8	protein_coding	9/10			chr19	TogoVar
NAPA_chr19_47482637_47520063	47509349	T T	TAAAATAA others(8): Show TAAAATAAAATAAATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0242 a0001c0001t0004g0242	1	338	0.0030	15	c.98+ others(30): Show c.98+5493_98+5494insTATTTATTTTATTTT	NAPA	ENSG00000105402.8	transcript	ENST00000263354.8	protein_coding	1/10			chr19	TogoVar
NAPB_chr20_23369522_23426488	23403603	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02630.hp1 NA18949.hp1 others(3): Show HG00423.hp2 HG02630.hp1 NA18949.hp1 NA18995.hp1 NA19054.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0238 a0001c0001t0001g0239 others(3): Show a0001c0001t0001g0207 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0249	6	394	0.0152	15	c.99- others(28): Show c.99-532_99-531insTTTTTTTTTTTTTTT	NAPB	ENSG00000125814.17	transcript	ENST00000377026.4	protein_coding	1/10			chr20	TogoVar
NAPEPLD_chr7_103094776_103154099	103125890	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02055.hp1 others(14): Show HG01243.hp1 HG01884.hp1 HG02055.hp1 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03471.hp2 HG03516.hp2 NA19030.hp1 NA19043.hp1 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0014 a0003c0003t0015 others(2): Show a0003c0003t0003 a0003c0003t0014 a0003c0003t0015 a0003c0003t0031 a0003c0003t0032	a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0282 others(12): Show a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0282 a0003c0003t0003g0284 a0003c0003t0003g0285 a0003c0003t0003g0309 a0003c0003t0003g0310 a0003c0003t0003g0311 a0003c0003t0003g0320 a0003c0003t0014g0296 a0003c0003t0014g0297 a0003c0003t0014g0308 a0003c0003t0015g0270 a0003c0003t0031g0283 a0003c0003t0032g0324	17	381	0.0446	15	c.294 others(32): Show c.294+2578_294+2592dupATTATTATTATTATT	NAPEPLD	ENSG00000161048.12	transcript	ENST00000465647.6	protein_coding	2/4			chr7	TogoVar
NAPEPLD_chr7_103094776_103154099	103148433	T T	TACCTCAA others(8): Show TACCTCAACTACCAGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01175.hp1 HG01891.hp1 others(8): Show HG00323.hp2 HG01175.hp1 HG01891.hp1 HG02280.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0006 a0002c0002t0006 a0003c0003t0015 others(1): Show a0001c0001t0006 a0002c0002t0006 a0003c0003t0015 a0003c0003t0028	a0001c0001t0006g0312 a0001c0001t0006g0313 a0001c0001t0006g0314 others(8): Show a0001c0001t0006g0312 a0001c0001t0006g0313 a0001c0001t0006g0314 a0001c0001t0006g0315 a0001c0001t0006g0317 a0001c0001t0006g0318 a0001c0001t0006g0319 a0002c0002t0006g0316 a0003c0003t0015g0269 a0003c0003t0015g0270 a0003c0003t0028g0279	11	381	0.0289	15	c.-17 others(30): Show c.-17+377_-17+378insCCTGGTAGTTGAGGT	NAPEPLD	ENSG00000161048.12	transcript	ENST00000465647.6	protein_coding	1/4			chr7	TogoVar
NAPSA_chr19_50353477_50370639	50369558	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02080.hp1 HG02165.hp2 others(12): Show HG01884.hp2 HG02080.hp1 HG02165.hp2 HG02293.hp2 HG02602.hp2 HG03491.hp1 HG03669.hp1 HG03942.hp1 HG04115.hp2 NA18950.hp1 NA18955.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0001 a0002c0012t0001 a0001c0001t0001 a0002c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0031 a0002c0012t0001g0039 a0001c0001t0001g0001 a0001c0001t0001g0031 a0002c0012t0001g0039	15	350	0.0429	15	c.-39 others(26): Show c.-3952_-3938dupAAAAAAAAAAAAAAA	NAPSA	ENSG00000131400.9	transcript	ENST00000253719.7	protein_coding		3920		chr19	TogoVar
NARF_chr17_82453741_82495537	82471791	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19043.hp2 HG02145.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0001 a0001c0001t0012 a0001c0002t0001	a0001c0001t0012g0204 a0001c0002t0001g0099 a0001c0001t0012g0204 a0001c0002t0001g0099	2	356	0.0056	15	c.386 others(30): Show c.386-771_386-757dupAAAAAAAAAAAAAAA	NARF	ENSG00000141562.19	transcript	ENST00000309794.16	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
NARS2_chr11_78430968_78579864	78444727	C C	CAAAGAAA others(8): Show CAAAGAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp1 HG02717.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0257 a0001c0003t0003g0258 a0001c0003t0003g0257 a0001c0003t0003g0258	2	294	0.0068	15	c.116 others(32): Show c.1165-970_1165-969insTTTTTTTTTTTCTTT	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	11/13			chr11	TogoVar
NARS2_chr11_78430968_78579864	78538994	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03017.hp2 HG04199.hp1 others(1): Show HG02135.hp2 HG03017.hp2 HG04199.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0053 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0053 a0002c0002t0003g0171	4	294	0.0136	15	c.595 others(34): Show c.595-10073_595-10059dupTTTTTTTTTTTTTTT	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	5/13			chr11	TogoVar
NARS2_chr11_78430968_78579864	78563885	G G	GTATTATT others(8): Show GTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp2 HG02976.hp1 others(2): Show HG02055.hp1 HG02647.hp2 HG02976.hp1 HG03139.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 others(2): Show a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0008g0290 a0002c0002t0008g0293	5	294	0.0170	15	c.513 others(32): Show c.513+2232_513+2246dupATAATAATAATAATA	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	4/13			chr11	TogoVar
NASP_chr1_45579041_45623893	45586284	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0281 a0001c0002t0001g0281	1	300	0.0033	15	c.59+ others(30): Show c.59+2079_59+2080insTGTGTGTGTGTGTGT	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14			chr1	TogoVar
NASP_chr1_45579041_45623893	45587687	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	300	0.0033	15	c.59+ others(30): Show c.59+3483_59+3484insTATATATATATATAA	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201535650	C C	CCTGACTC others(8): Show CCTGACTCCGACTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0209 a0001c0001t0071g0209	1	210	0.0048	15	c.-38 others(26): Show c.-3836_-3835insCTGACTCCGACTCCT	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding		3476		chr1	TogoVar
NAV1_chr1_201534127_201831969	201604700	A A	AGAAAGAA others(8): Show AGAAAGAAAGAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp2 HG02630.hp1 others(2): Show HG02145.hp1 HG02559.hp2 HG02630.hp1 HG03516.hp2 NA19043.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0004 a0008c0011 a0001c0001 a0003c0004 a0008c0011	a0001c0001t0001 a0001c0001t0028 a0003c0004t0006 others(2): Show a0001c0001t0001 a0001c0001t0028 a0003c0004t0006 a0003c0004t0040 a0008c0011t0013	a0001c0001t0001g0157 a0001c0001t0028g0177 a0003c0004t0006g0123 others(2): Show a0001c0001t0001g0157 a0001c0001t0028g0177 a0003c0004t0006g0123 a0003c0004t0040g0142 a0008c0011t0013g0178	5	210	0.0238	15	c.-33 others(34): Show c.-33+16067_-33+16081dupGAAAGAAAGAGAAAG	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201642545	C C	CTTTCTTT others(8): Show CTTTCTTTTCTTTCTA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	210	0.0048	15	c.827 others(32): Show c.827-6082_827-6081insTCTTTCTATTTCTTT	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201645690	T T	TCACAGTG others(8): Show TCACAGTGAAAATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(138): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18940.hp2 NA18947.hp1 NA18951.hp1 NA18960.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19062.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19085.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0016 a0017 a0018	a0001c0001 a0001c0006 a0001c0007 others(29): Show a0001c0001 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0015 a0001c0023 a0001c0026 a0001c0031 a0001c0036 a0002c0002 a0003c0004 a0003c0020 a0003c0030 a0003c0035 a0003c0037 a0004c0003 a0005c0005 a0005c0016 a0006c0033 a0007c0017 a0008c0011 a0009c0012 a0011c0032 a0012c0022 a0013c0024 a0014c0027 a0016c0025 a0017c0028 a0018c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(102): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0077 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0091 a0001c0001t0094 a0001c0001t0098 a0001c0001t0100 a0001c0006t0021 a0001c0007t0043 a0001c0007t0044 a0001c0007t0054 a0001c0009t0022 a0001c0009t0089 a0001c0010t0066 a0001c0010t0092 a0001c0013t0083 a0001c0013t0097 a0001c0014t0001 a0001c0014t0036 a0001c0015t0023 a0001c0023t0004 a0001c0026t0069 a0001c0031t0051 a0001c0036t0076 a0002c0002t0001 a0002c0002t0003 a0002c0002t0009 a0002c0002t0012 a0002c0002t0035 a0002c0002t0036 a0002c0002t0039 a0002c0002t0058 a0002c0002t0095 a0002c0002t0099 a0003c0004t0006 a0003c0004t0026 a0003c0004t0040 a0003c0004t0059 a0003c0004t0060 a0003c0020t0090 a0003c0030t0006 a0003c0035t0006 a0003c0037t0061 a0004c0003t0007 a0004c0003t0019 a0004c0003t0020 a0004c0003t0032 a0005c0005t0001 a0005c0005t0046 a0005c0016t0014 a0006c0033t0001 a0007c0017t0027 a0007c0017t0062 a0008c0011t0013 a0009c0012t0005 a0009c0012t0020 a0011c0032t0024 a0012c0022t0031 a0013c0024t0027 a0014c0027t0004 a0016c0025t0017 a0017c0028t0015 a0018c0019t0042	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0124 others(138): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0181 a0001c0001t0002g0005 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0049 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0109 a0001c0001t0002g0138 a0001c0001t0004g0072 a0001c0001t0004g0084 a0001c0001t0004g0159 a0001c0001t0005g0033 a0001c0001t0005g0035 a0001c0001t0005g0054 a0001c0001t0005g0061 a0001c0001t0005g0205 a0001c0001t0007g0032 a0001c0001t0008g0088 a0001c0001t0008g0183 a0001c0001t0009g0042 a0001c0001t0010g0045 a0001c0001t0011g0148 a0001c0001t0012g0055 a0001c0001t0015g0071 a0001c0001t0015g0081 a0001c0001t0016g0153 a0001c0001t0017g0113 a0001c0001t0017g0115 a0001c0001t0018g0022 a0001c0001t0018g0023 a0001c0001t0019g0051 a0001c0001t0020g0083 a0001c0001t0028g0158 a0001c0001t0029g0101 a0001c0001t0029g0129 a0001c0001t0030g0126 a0001c0001t0031g0114 a0001c0001t0035g0017 a0001c0001t0037g0058 a0001c0001t0038g0125 a0001c0001t0045g0135 a0001c0001t0047g0200 a0001c0001t0048g0184 a0001c0001t0049g0075 a0001c0001t0050g0096 a0001c0001t0052g0112 a0001c0001t0053g0034 a0001c0001t0055g0155 a0001c0001t0056g0078 a0001c0001t0063g0047 a0001c0001t0064g0168 a0001c0001t0065g0111 a0001c0001t0068g0162 a0001c0001t0070g0163 a0001c0001t0071g0209 a0001c0001t0073g0066 a0001c0001t0074g0090 a0001c0001t0077g0202 a0001c0001t0084g0156 a0001c0001t0085g0194 a0001c0001t0086g0110 a0001c0001t0087g0041 a0001c0001t0091g0167 a0001c0001t0094g0039 a0001c0001t0098g0015 a0001c0001t0100g0063 a0001c0006t0021g0210 a0001c0007t0043g0031 a0001c0007t0044g0067 a0001c0007t0054g0028 a0001c0009t0022g0174 a0001c0009t0089g0199 a0001c0010t0066g0085 a0001c0010t0092g0173 a0001c0013t0083g0203 a0001c0013t0097g0188 a0001c0014t0001g0170 a0001c0014t0036g0175 a0001c0015t0023g0192 a0001c0015t0023g0193 a0001c0023t0004g0146 a0001c0026t0069g0169 a0001c0031t0051g0107 a0001c0036t0076g0206 a0002c0002t0001g0180 a0002c0002t0003g0105 a0002c0002t0009g0008 a0002c0002t0009g0012 a0002c0002t0012g0037 a0002c0002t0012g0053 a0002c0002t0012g0065 a0002c0002t0035g0018 a0002c0002t0036g0056 a0002c0002t0039g0013 a0002c0002t0058g0144 a0002c0002t0095g0152 a0002c0002t0099g0025 a0003c0004t0006g0123 a0003c0004t0026g0187 a0003c0004t0040g0142 a0003c0004t0059g0186 a0003c0004t0060g0172 a0003c0020t0090g0161 a0003c0030t0006g0207 a0003c0035t0006g0191 a0003c0037t0061g0104 a0004c0003t0007g0038 a0004c0003t0007g0057 a0004c0003t0019g0166 a0004c0003t0019g0189 a0004c0003t0020g0016 a0004c0003t0032g0046 a0004c0003t0032g0133 a0005c0005t0001g0074 a0005c0005t0046g0195 a0005c0016t0014g0004 a0005c0016t0014g0026 a0006c0033t0001g0132 a0007c0017t0027g0106 a0007c0017t0062g0198 a0008c0011t0013g0073 a0008c0011t0013g0178 a0009c0012t0005g0094 a0009c0012t0020g0050 a0011c0032t0024g0134 a0012c0022t0031g0197 a0013c0024t0027g0127 a0014c0027t0004g0077 a0016c0025t0017g0204 a0017c0028t0015g0208 a0018c0019t0042g0141	141	210	0.6714	15	c.827 others(32): Show c.827-2931_827-2930insTACACAGTGAAAATA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201734482	G G	GGAAGAAG others(8): Show GGAAGAAGGAGAAGAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02165.hp2 HG02056.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0001 a0001c0001t0037	a0001c0001t0001g0103 a0001c0001t0037g0058 a0001c0001t0001g0103 a0001c0001t0037g0058	2	210	0.0095	15	c.208 others(36): Show c.2087+15729_2087+15730insAGAAGGAGAAGAAGA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201734499	G G	GAGAAGAA others(8): Show GAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01069.hp2 HG01071.hp1 others(15): Show HG00140.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG02083.hp2 HG02523.hp1 HG02602.hp1 HG02886.hp2 HG03654.hp2 HG03834.hp1 HG04184.hp2 NA18977.hp2 NA18983.hp2 NA19005.hp2 NA19043.hp2 NA19064.hp1 NA19070.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0007 a0001c0009 others(4): Show a0001c0001 a0001c0007 a0001c0009 a0002c0002 a0004c0003 a0005c0016 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 a0001c0001t0038 a0001c0001t0039 a0001c0001t0049 a0001c0001t0053 a0001c0007t0043 a0001c0009t0022 a0002c0002t0003 a0002c0002t0009 a0002c0002t0039 a0004c0003t0007 a0005c0016t0014 a0006c0008t0088	a0001c0001t0001g0086 a0001c0001t0002g0005 a0001c0001t0002g0108 others(15): Show a0001c0001t0001g0086 a0001c0001t0002g0005 a0001c0001t0002g0108 a0001c0001t0008g0009 a0001c0001t0019g0051 a0001c0001t0038g0125 a0001c0001t0039g0003 a0001c0001t0049g0075 a0001c0001t0053g0034 a0001c0007t0043g0031 a0001c0009t0022g0174 a0002c0002t0003g0036 a0002c0002t0009g0102 a0002c0002t0039g0013 a0004c0003t0007g0057 a0005c0016t0014g0004 a0005c0016t0014g0026 a0006c0008t0088g0089	18	210	0.0857	15	c.208 others(36): Show c.2087+15763_2087+15777dupAGAAGAAGAAGAAGA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201734499	G G	GAGGAGAA others(8): Show GAGGAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0154 a0003c0004t0006g0154	1	210	0.0048	15	c.208 others(36): Show c.2087+15746_2087+15747insGAGAAGAAGAAGAAG	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19859137	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0009 a0009	a0009c0109 a0009c0109	a0009c0109t0004 a0009c0109t0004	a0009c0109t0004g0039 a0009c0109t0004g0039	1	166	0.0060	15	c.439 others(32): Show c.439-9780_439-9766dupTTTTTTTTTTTTTTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19927688	T T	TAAAACAA others(8): Show TAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03486.hp2 HG02809.hp1 HG03486.hp2	a0001 a0001	a0001c0045 a0001c0084 a0001c0045 a0001c0084	a0001c0045t0018 a0001c0084t0005 a0001c0045t0018 a0001c0084t0005	a0001c0045t0018g0113 a0001c0084t0005g0075 a0001c0045t0018g0113 a0001c0084t0005g0075	2	166	0.0121	15	c.932 others(32): Show c.932-5473_932-5459dupCAAAACAAAACAAAA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	6/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19935851	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0006 a0006	a0006c0037 a0006c0037	a0006c0037t0034 a0006c0037t0034	a0006c0037t0034g0023 a0006c0037t0034g0023	1	166	0.0060	15	c.203 others(34): Show c.2033+1585_2033+1586insGTTTTTTTTTTTTTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20074760	C C	CCTTTTTT others(8): Show CCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp2 HG01243.hp2 others(15): Show HG00735.hp1 HG01070.hp2 HG01243.hp2 HG01952.hp2 HG02027.hp2 HG02071.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02965.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG04115.hp1 HG04228.hp1 NA19240.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0003 a0001c0007 a0001c0036 others(14): Show a0001c0003 a0001c0007 a0001c0036 a0001c0046 a0001c0071 a0001c0079 a0001c0084 a0002c0096 a0003c0042 a0003c0062 a0003c0064 a0004c0001 a0005c0143 a0006c0022 a0006c0039 a0007c0112 a0008c0117	a0001c0003t0023 a0001c0003t0026 a0001c0007t0007 others(15): Show a0001c0003t0023 a0001c0003t0026 a0001c0007t0007 a0001c0036t0046 a0001c0046t0014 a0001c0071t0007 a0001c0079t0024 a0001c0084t0005 a0002c0096t0001 a0003c0042t0001 a0003c0062t0027 a0003c0064t0004 a0004c0001t0006 a0005c0143t0019 a0006c0022t0004 a0006c0039t0003 a0007c0112t0006 a0008c0117t0029	a0001c0003t0023g0132 a0001c0003t0026g0157 a0001c0007t0007g0088 others(15): Show a0001c0003t0023g0132 a0001c0003t0026g0157 a0001c0007t0007g0088 a0001c0036t0046g0123 a0001c0046t0014g0101 a0001c0071t0007g0011 a0001c0079t0024g0133 a0001c0084t0005g0075 a0002c0096t0001g0130 a0003c0042t0001g0161 a0003c0062t0027g0129 a0003c0064t0004g0016 a0004c0001t0006g0046 a0005c0143t0019g0114 a0006c0022t0004g0124 a0006c0039t0003g0121 a0007c0112t0006g0071 a0008c0117t0029g0160	18	166	0.1084	15	c.498 others(34): Show c.4984-2792_4984-2791insCTTTTTTTTTTTTTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	22/37			chr11	TogoVar
NAV2_chr11_19707837_20126601	20107057	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0124 a0002c0124	a0002c0124t0003 a0002c0124t0003	a0002c0124t0003g0091 a0002c0124t0003g0091	1	166	0.0060	15	c.684 others(32): Show c.6842-583_6842-569dupTTTTTTTTTTTTTTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV3_chr12_77825894_78218010	78091795	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0037 a0001c0004t0037	a0001c0004t0037g0059 a0001c0004t0037g0059	1	186	0.0054	15	c.263 others(36): Show c.2637-24973_2637-24959dupAAAAAAAAAAAAAAA	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	12/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NAXE_chr1_156586776_156599299	156591765	G G	GGGGCCGG others(8): Show GGGGCCGGGCCGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01168.hp2 HG02055.hp1 others(25): Show HG00741.hp1 HG01168.hp2 HG02055.hp1 HG02109.hp2 HG02135.hp2 HG02257.hp1 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03490.hp1 HG03492.hp1 HG03942.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18945.hp1 NA18951.hp2 NA18963.hp1 NA18974.hp1 NA19059.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0002c0002t0002g0003 a0002c0002t0002g0012 others(1): Show a0001c0001t0001g0001 a0002c0002t0002g0003 a0002c0002t0002g0012 a0002c0002t0002g0020	28	432	0.0648	15	c.-40 others(22): Show c.-40_-39insGGGCCGGGCCGGGCC	NAXE	ENSG00000163382.13	transcript	ENST00000368235.8	protein_coding		10		chr1	TogoVar
NAXE_chr1_156586776_156599299	156591765	G G	GGGGCCGG others(8): Show GGGGCCGGGCCGGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG02717.hp1 HG02451.hp1 HG02572.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	3	432	0.0069	15	c.-40 others(22): Show c.-40_-39insGGGCCGGGCCGGGTC	NAXE	ENSG00000163382.13	transcript	ENST00000368235.8	protein_coding		10		chr1	TogoVar
NAXE_chr1_156586776_156599299	156591765	G G	GGGGTCGG others(8): Show GGGGTCGGGCCGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03834.hp1 HG02922.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0007g0002 a0001c0001t0001g0002 a0001c0001t0007g0002	2	432	0.0046	15	c.-40 others(22): Show c.-40_-39insGGGTCGGGCCGGGCC	NAXE	ENSG00000163382.13	transcript	ENST00000368235.8	protein_coding		10		chr1	TogoVar
NBDY_chrX_56724243_56824179	56776877	T T	TCCTCCTC others(8): Show TCCTCCTCCTCCTCCG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0050 a0001c0001t0007g0050	1	160	0.0063	15	c.16 others(36): Show c.167-40429_*167-40428insGCCTCCTCCTCCTCC	NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
NBEAL1_chr2_203009875_203230194	203141360	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	292	0.0034	15	c.484 others(34): Show c.4848+2614_4848+2615insTTTTTTTTTTTTTTT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	31/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203141363	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18951.hp1 NA18981.hp2 others(1): Show HG02818.hp2 NA18951.hp1 NA18981.hp2 NA18983.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0020 a0001c0001t0032 others(1): Show a0001c0001t0002 a0001c0001t0020 a0001c0001t0032 a0003c0003t0004	a0001c0001t0002g0121 a0001c0001t0020g0140 a0001c0001t0032g0141 others(1): Show a0001c0001t0002g0121 a0001c0001t0020g0140 a0001c0001t0032g0141 a0003c0003t0004g0036	4	292	0.0137	15	c.484 others(34): Show c.4848+2617_4848+2618insTTTTTTTTTTTTTTT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	31/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203141366	A A	ATTATTAT others(8): Show ATTATTATTATTATTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03831.hp1 NA19057.hp1 HG02451.hp2 HG03831.hp1 NA19057.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0002 a0002c0002t0003 a0004c0005t0002 a0001c0001t0002 a0002c0002t0003 a0004c0005t0002	a0001c0001t0002g0182 a0002c0002t0003g0046 a0004c0005t0002g0173 a0001c0001t0002g0182 a0002c0002t0003g0046 a0004c0005t0002g0173	3	292	0.0103	15	c.484 others(34): Show c.4848+2620_4848+2621insATTATTATTATTTTT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	31/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203141366	A A	ATTATTAT others(8): Show ATTATTATTATTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0175 a0004c0005t0002g0175	1	292	0.0034	15	c.484 others(34): Show c.4848+2620_4848+2621insATTATTATTTTTTTT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	31/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203141366	A A	ATTATTTT others(8): Show ATTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02055.hp1 HG02602.hp2 others(2): Show HG01175.hp2 HG02055.hp1 HG02602.hp2 NA19010.hp1 NA19066.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0028 a0001c0001 a0012c0028	a0001c0001t0002 a0001c0001t0031 a0001c0001t0043 others(1): Show a0001c0001t0002 a0001c0001t0031 a0001c0001t0043 a0012c0028t0042	a0001c0001t0002g0118 a0001c0001t0002g0157 a0001c0001t0031g0114 others(2): Show a0001c0001t0002g0118 a0001c0001t0002g0157 a0001c0001t0031g0114 a0001c0001t0043g0096 a0012c0028t0042g0250	5	292	0.0171	15	c.484 others(34): Show c.4848+2620_4848+2621insATTTTTTTTTTTTTT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	31/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203141366	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18949.hp2 NA18980.hp1 others(1): Show HG02273.hp1 NA18949.hp2 NA18980.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0033 a0001c0001t0002 a0001c0001t0016 a0001c0001t0033	a0001c0001t0002g0099 a0001c0001t0002g0292 a0001c0001t0016g0155 others(1): Show a0001c0001t0002g0099 a0001c0001t0002g0292 a0001c0001t0016g0155 a0001c0001t0033g0136	4	292	0.0137	15	c.484 others(34): Show c.4848+2636_4848+2650dupTTTTTTTTTTTTTTT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	31/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203180933	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01515.hp2 HG02300.hp1 others(1): Show HG01361.hp2 HG01515.hp2 HG02300.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0048 a0001c0001t0002 a0001c0004t0048	a0001c0001t0002g0154 a0001c0001t0002g0290 a0001c0001t0002g0291 others(1): Show a0001c0001t0002g0154 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0004t0048g0285	4	292	0.0137	15	c.659 others(32): Show c.6595+429_6595+443dupTTTTTTTTTTTTTTT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	43/55		INFO_REALIGN_3_PRIME	chr2	TogoVar

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