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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MYOM2_chr8_2040046_2150456	2085572	ACTGTTGT others(16): Show ACTGTTGTGATCTCTGCGTGGCCC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02683.hp2 HG04184.hp2 HG01192.hp2 HG02683.hp2 HG04184.hp2	a0001 a0063 a0001 a0063	a0001c0009 a0001c0116 a0063c0150 a0001c0009 a0001c0116 a0063c0150	a0001c0009t0002 a0001c0116t0001 a0063c0150t0001 a0001c0009t0002 a0001c0116t0001 a0063c0150t0001	a0001c0009t0002g0015 a0001c0116t0001g0016 a0063c0150t0001g0035 a0001c0009t0002g0015 a0001c0116t0001g0016 a0063c0150t0001g0035	3	386	0.0078	-23	c.164 others(40): Show c.1644+184_1644+206delTGTTGTGATCTCTGCGTGGCCCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086180	CCCACTGT others(16): Show CCCACTGTCATGATCTCTGCGTGG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02451.hp1 HG04204.hp2 others(3): Show HG02040.hp2 HG02451.hp1 HG04204.hp2 NA18964.hp1 NA18971.hp2 NA19087.hp1	a0002 a0003 a0011 others(1): Show a0002 a0003 a0011 a0030	a0002c0017 a0003c0001 a0003c0004 others(2): Show a0002c0017 a0003c0001 a0003c0004 a0011c0011 a0030c0188	a0002c0017t0001 a0003c0001t0001 a0003c0001t0002 others(3): Show a0002c0017t0001 a0003c0001t0001 a0003c0001t0002 a0003c0004t0002 a0011c0011t0001 a0030c0188t0001	a0002c0017t0001g0208 a0003c0001t0001g0338 a0003c0001t0002g0267 others(3): Show a0002c0017t0001g0208 a0003c0001t0001g0338 a0003c0001t0002g0267 a0003c0004t0002g0237 a0011c0011t0001g0226 a0030c0188t0001g0056	6	369	0.0163	-23	c.164 others(40): Show c.1644+793_1644+815delACTGTCATGATCTCTGCGTGGCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086183	ACTGTCAT others(16): Show ACTGTCATGATCTCTGCGTGGCCC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0043 a0043	a0043c0154 a0043c0154	a0043c0154t0001 a0043c0154t0001	a0043c0154t0001g0106 a0043c0154t0001g0106	1	394	0.0025	-23	c.164 others(40): Show c.1644+795_1644+817delTGTCATGATCTCTGCGTGGCCCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2100098	TTCCTTCC others(16): Show TTCCTTCCTTCTTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03225.hp2 HG02257.hp2 HG03225.hp2	a0001 a0001	a0001c0023 a0001c0065 a0001c0023 a0001c0065	a0001c0023t0001 a0001c0065t0001 a0001c0023t0001 a0001c0065t0001	a0001c0023t0001g0137 a0001c0065t0001g0125 a0001c0023t0001g0137 a0001c0065t0001g0125	2	394	0.0051	-23	c.244 others(40): Show c.2441-776_2441-754delCCTTCCTTCTTTCTTTCCTTCCT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	19/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYRFL_chr12_69820227_69964097	69877637	GGATTTTT others(16): Show GGATTTTTGGAGGAGAGTAGATGT	G G	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0028 a0002c0002t0002g0028	1	320	0.0031	-23	c.138 others(40): Show c.138-1389_138-1367delATTTTTGGAGGAGAGTAGATGTG	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRFL_chr12_69820227_69964097	69887655	GTTAAAAT others(16): Show GTTAAAATTTTCCAAATTCAAATT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02055.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0235 a0001c0001t0003g0228 a0001c0001t0003g0235	2	320	0.0063	-23	c.707 others(38): Show c.707+708_707+730delTTTAAAATTTTCCAAATTCAAAT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRIP_chr3_39804609_40265321	39852731	CCTGTTCT others(16): Show CCTGTTCTCCTCTTCTCTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02486.hp1 HG02809.hp1 others(7): Show HG01192.hp2 HG02486.hp1 HG02809.hp1 HG02886.hp2 HG03041.hp2 HG03471.hp2 NA18906.hp2 NA18986.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0014 a0001c0015 others(3): Show a0001c0001 a0001c0014 a0001c0015 a0002c0010 a0002c0011 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0014t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0014t0001 a0001c0015t0005 a0002c0010t0014 a0002c0011t0003 a0003c0007t0001	a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0167 others(7): Show a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0167 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0014t0001g0036 a0001c0015t0005g0038 a0002c0010t0014g0035 a0002c0011t0003g0034 a0003c0007t0001g0037	10	168	0.0595	-23	c.-31 others(42): Show c.-31+42855_-31+42877delTTCTCTTCTGTTCTCCTCTTCTC	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40203977	ATATATAA others(16): Show ATATATAATATATATTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(66): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00735.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01884.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02258.hp1 HG02486.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03688.hp1 HG03704.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18964.hp1 NA18964.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18990.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0020t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(66): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0167 a0001c0001t0002g0155 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0046 a0001c0001t0003g0082 a0001c0001t0003g0119 a0001c0001t0003g0137 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0005g0068 a0001c0001t0005g0136 a0001c0001t0007g0096 a0001c0001t0009g0135 a0001c0001t0009g0160 a0001c0001t0011g0115 a0001c0001t0012g0066 a0001c0001t0013g0129 a0001c0001t0015g0029 a0001c0001t0017g0097 a0001c0001t0018g0095 a0001c0020t0004g0139	69	166	0.4157	-23	c.166 others(42): Show c.1666-5870_1666-5848delATATATATTATATATATTATATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40229490	TGCTTCAG others(16): Show TGCTTCAGCACTGTGTCATTTGTG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02040.hp1 HG02486.hp2 others(10): Show HG01255.hp1 HG02040.hp1 HG02486.hp2 HG02559.hp2 HG02698.hp1 HG02886.hp2 HG02922.hp1 HG03490.hp2 HG03492.hp2 NA18906.hp2 NA18983.hp2 NA19030.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0004 a0001c0015 a0002c0008 others(3): Show a0001c0004 a0001c0015 a0002c0008 a0002c0011 a0004c0009 a0006c0016	a0001c0004t0003 a0001c0015t0005 a0002c0008t0019 others(3): Show a0001c0004t0003 a0001c0015t0005 a0002c0008t0019 a0002c0011t0003 a0004c0009t0005 a0006c0016t0008	a0001c0004t0003g0023 a0001c0004t0003g0105 a0001c0004t0003g0165 others(10): Show a0001c0004t0003g0023 a0001c0004t0003g0105 a0001c0004t0003g0165 a0001c0015t0005g0038 a0002c0008t0019g0098 a0002c0011t0003g0034 a0004c0009t0005g0100 a0004c0009t0005g0111 a0004c0009t0005g0112 a0004c0009t0005g0113 a0004c0009t0005g0116 a0006c0016t0008g0028 a0006c0016t0008g0138	13	168	0.0774	-23	c.190 others(42): Show c.1906-4368_1906-4346delGCTTCAGCACTGTGTCATTTGTG	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	11/16			chr3	TogoVar
MYT1L_chr2_1784113_2336275	1836510	CCCAATAT others(16): Show CCCAATATTCCATCAGCCTGCGCT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0088 a0001c0005t0004g0088	1	102	0.0098	-23	c.308 others(42): Show c.3080+2616_3080+2638delAGCGCAGGCTGATGGAATATTGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	21/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	1836700	CCCATCAG others(16): Show CCCATCAGCCTGCATCCCAAAATT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0014 a0001c0022t0014	a0001c0022t0014g0012 a0001c0022t0014g0012	1	102	0.0098	-23	c.308 others(42): Show c.3080+2426_3080+2448delAATTTTGGGATGCAGGCTGATGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	21/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64212189	GGGGGCCA others(16): Show GGGGGCCAGGGTGGGGGCCGTGGT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00733.hp2 others(27): Show HG00408.hp1 HG00597.hp1 HG00733.hp2 HG01070.hp2 HG01256.hp2 HG01346.hp1 HG01361.hp1 HG01884.hp2 HG01934.hp2 HG02074.hp2 HG02129.hp2 HG02258.hp2 HG02622.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03540.hp1 HG03669.hp2 NA18906.hp1 NA18971.hp1 NA19043.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0014 a0004c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0002t0002 a0001c0002t0005 a0001c0004t0004 a0001c0006t0015 a0001c0007t0002 a0001c0007t0009 a0001c0014t0003 a0004c0010t0003	a0001c0001t0001g0054 a0001c0001t0001g0148 a0001c0001t0003g0024 others(26): Show a0001c0001t0001g0054 a0001c0001t0001g0148 a0001c0001t0003g0024 a0001c0001t0003g0139 a0001c0001t0003g0180 a0001c0001t0003g0186 a0001c0001t0013g0014 a0001c0002t0002g0013 a0001c0002t0005g0061 a0001c0002t0005g0062 a0001c0002t0005g0090 a0001c0002t0005g0129 a0001c0002t0005g0130 a0001c0004t0004g0017 a0001c0004t0004g0035 a0001c0004t0004g0037 a0001c0004t0004g0038 a0001c0004t0004g0050 a0001c0004t0004g0056 a0001c0004t0004g0070 a0001c0004t0004g0072 a0001c0004t0004g0073 a0001c0004t0004g0182 a0001c0004t0004g0209 a0001c0006t0015g0027 a0001c0007t0002g0002 a0001c0007t0009g0163 a0001c0014t0003g0049 a0004c0010t0003g0114	30	221	0.1357	-23	c.151 others(38): Show c.1517+56_1517+78delCCAGGGTGGGGGCCGTGGTGGGG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57687440	TAATATGT others(16): Show TAATATGTGTGTACAATATACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG01257.hp1 others(24): Show HG01081.hp1 HG01109.hp2 HG01257.hp1 HG01258.hp2 HG01891.hp1 HG02280.hp2 HG02602.hp2 HG02615.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02976.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03490.hp2 HG03540.hp1 HG03654.hp2 HG03710.hp2 HG04199.hp1 NA18942.hp1 NA18957.hp1 NA19003.hp2 NA19083.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0003t0004 a0001c0003t0006 a0002c0002t0002 a0002c0002t0003 a0002c0002t0018 a0002c0004t0002	a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0257 others(23): Show a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0002g0313 a0001c0001t0004g0233 a0001c0001t0005g0121 a0001c0001t0007g0243 a0001c0003t0004g0109 a0001c0003t0004g0111 a0001c0003t0004g0112 a0001c0003t0004g0114 a0001c0003t0006g0115 a0001c0003t0006g0116 a0001c0003t0006g0119 a0002c0002t0002g0002 a0002c0002t0002g0022 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0050 a0002c0002t0002g0056 a0002c0002t0003g0123 a0002c0002t0003g0124 a0002c0002t0018g0016 a0002c0004t0002g0330	27	336	0.0804	-23	c.29 others(34): Show c.2943_*2965delAATATGTGTGTACAATATACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2077		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57689268	GTGTATAT others(16): Show GTGTATATAATTGTATATAATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0090 a0001c0003t0005g0090	1	350	0.0029	-23	c.47 others(34): Show c.4771_*4793delTGTATATAATTGTATATAATGGA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3905		chr15	TogoVar
N4BP1_chr16_48533726_48615180	48552699	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03195.hp1 HG03225.hp1 HG01109.hp1 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	3	64	0.0469	-23	c.202 others(40): Show c.2020+817_2020+839delTTTTTTTTTTTTTTTTTTTTTTT	N4BP1	ENSG00000102921.8	transcript	ENST00000262384.4	protein_coding	3/6			chr16	TogoVar
NAA15_chr4_139296505_139396384	139315013	TAGGTTAG others(16): Show TAGGTTAGGTTAGGTTAGGTTAGG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02258.hp2 HG02572.hp1 others(2): Show HG00323.hp1 HG02258.hp2 HG02572.hp1 HG04199.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 others(2): Show a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0005g0030 a0001c0001t0005g0304	5	296	0.0169	-23	c.54+ others(40): Show c.54+13183_54+13205delAGGTTAGGTTAGGTTAGGTTAGG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19			chr4	TogoVar
NAA16_chr13_41306267_41382030	41347359	TTTTAGGA others(16): Show TTTTAGGATTGGCTTTTCTATTTC	T T	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	354	0.0028	-23	c.101 others(42): Show c.1015-7783_1015-7761delTTAGGATTGGCTTTTCTATTTCT	NAA16	ENSG00000172766.19	transcript	ENST00000379406.8	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
NAA25_chr12_112021689_112113783	112059075	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG01109.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0242 a0001c0001t0001g0187 a0001c0001t0001g0242	2	3	0.6667	-23	c.144 others(42): Show c.1447+1172_1447+1194delTTTTTTTTTTTTTTTTTTTTTTT	NAA25	ENSG00000111300.10	transcript	ENST00000261745.9	protein_coding	13/23			chr12	TogoVar
NAALAD2_chr11_90129663_90197894	90155610	CATATAAA others(16): Show CATATAAATTACATATATATTAAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp1 HG02559.hp2 others(4): Show HG01192.hp2 HG02055.hp1 HG02559.hp2 HG02698.hp1 HG02970.hp2 NA19240.hp1 NA20805.hp1	a0002 a0006 a0002 a0006	a0002c0003 a0006c0008 a0002c0003 a0006c0008	a0002c0003t0001 a0002c0003t0004 a0006c0008t0004 a0002c0003t0001 a0002c0003t0004 a0006c0008t0004	a0002c0003t0001g0269 a0002c0003t0001g0288 a0002c0003t0001g0290 others(4): Show a0002c0003t0001g0269 a0002c0003t0001g0288 a0002c0003t0001g0290 a0002c0003t0004g0304 a0006c0008t0004g0230 a0006c0008t0004g0289 a0006c0008t0004g0295	7	322	0.0217	-23	c.797 others(40): Show c.797-2529_797-2507delAATTACATATATATTAATATATA	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAALADL1_chr11_65039818_65063553	65051315	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02922.hp2 others(1): Show HG02451.hp2 HG02572.hp2 HG02922.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0102 others(1): Show a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0102 a0001c0001t0001g0107	4	68	0.0588	-23	c.119 others(42): Show c.1198+1880_1198+1902delAAAAAAAAAAAAAAAAAAAAAAA	NAALADL1	ENSG00000168060.16	transcript	ENST00000358658.8	protein_coding	8/17			chr11	TogoVar
NAALADL1_chr11_65039818_65063553	65054755	AGGCTGTG others(16): Show AGGCTGTGTGTAAGGGAGGGACCG	A A	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0105 a0011c0012t0001g0105	1	370	0.0027	-23	c.604 others(36): Show c.604-40_604-18delCGGTCCCTCCCTTACACACAGCC	NAALADL1	ENSG00000168060.16	transcript	ENST00000358658.8	protein_coding	4/17			chr11	TogoVar
NAALADL2_chr3_174854334_175815548	174894594	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0026 a0001c0001t0006g0026	1	8	0.1250	-23	c.43+ others(40): Show c.43+35171_43+35193delAAAAAAAAAAAAAAAAAAAAAAA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175491161	ATATTTTA others(16): Show ATATTTTATTGTCCTATAAAATAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01074.hp1 others(11): Show HG00639.hp1 HG00741.hp1 HG01074.hp1 HG01109.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02809.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 NA18906.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0013 a0002c0003 others(6): Show a0001c0001 a0001c0013 a0002c0003 a0002c0007 a0003c0004 a0004c0008 a0005c0011 a0006c0009 a0007c0014	a0001c0001t0002 a0001c0013t0005 a0002c0003t0001 others(11): Show a0001c0001t0002 a0001c0013t0005 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0007t0021 a0003c0004t0003 a0003c0004t0029 a0004c0008t0002 a0004c0008t0011 a0005c0011t0004 a0006c0009t0011 a0006c0009t0022 a0007c0014t0004	a0001c0001t0002g0012 a0001c0013t0005g0018 a0002c0003t0001g0060 others(11): Show a0001c0001t0002g0012 a0001c0013t0005g0018 a0002c0003t0001g0060 a0002c0003t0002g0017 a0002c0003t0004g0020 a0002c0007t0021g0049 a0003c0004t0003g0028 a0003c0004t0029g0022 a0004c0008t0002g0062 a0004c0008t0011g0036 a0005c0011t0004g0029 a0006c0009t0011g0011 a0006c0009t0022g0035 a0007c0014t0004g0040	14	64	0.2188	-23	c.165 others(44): Show c.1653+19423_1653+19445delATAGTATTTTATTGTCCTATAAA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NACC2_chr9_136001537_136100289	136024268	GGTGTGTG others(16): Show GGTGTGTGTGAGGACAGAGGGTGC	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0273 a0001c0005t0012g0273	1	346	0.0029	-23	c.887 others(40): Show c.887-7862_887-7840delGCACCCTCTGTCCTCACACACAC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NADSYN1_chr11_71448203_71506816	71448261	CCTCACCT others(16): Show CCTCACCTGCGCACACCTTGGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 NA21309.hp1 HG02622.hp2 NA21309.hp1	a0001 a0012 a0001 a0012	a0001c0024 a0012c0025 a0001c0024 a0012c0025	a0001c0024t0001 a0012c0025t0001 a0001c0024t0001 a0012c0025t0001	a0001c0024t0001g0253 a0012c0025t0001g0251 a0001c0024t0001g0253 a0012c0025t0001g0251	2	352	0.0057	-23	c.-50 others(34): Show c.-5035_-5013delCTCACCTGCGCACACCTTGGCCA	NADSYN1	ENSG00000172890.13	transcript	ENST00000319023.7	protein_coding		4941		chr11	TogoVar
NAIP_chr5_70963166_71030339	70978813	GATGGAGT others(16): Show GATGGAGTTTTGCTCTCGTTCCCC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03579.hp1 NA18906.hp1 HG03195.hp2 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0079 a0001c0001t0006g0080 a0001c0001t0006g0105 a0001c0001t0006g0079 a0001c0001t0006g0080 a0001c0001t0006g0105	3	140	0.0214	-23	c.344 others(42): Show c.3442+1033_3442+1055delGGGGAACGAGAGCAAAACTCCAT	NAIP	ENSG00000249437.8	transcript	ENST00000517649.6	protein_coding	13/16			chr5	TogoVar
NALCN_chr13_101048776_101421508	101234835	ACTATCTA others(16): Show ACTATCTATCTATCTATCATCTAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01975.hp2 HG02280.hp2 others(8): Show HG01243.hp2 HG01975.hp2 HG02280.hp2 HG02451.hp1 HG02622.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 others(1): Show a0001c0001 a0001c0004 a0001c0009 a0001c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0004t0007 a0001c0009t0004 a0001c0014t0001	a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0175 others(8): Show a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0175 a0001c0001t0003g0021 a0001c0001t0003g0043 a0001c0001t0003g0164 a0001c0001t0008g0004 a0001c0004t0007g0039 a0001c0009t0004g0096 a0001c0009t0004g0097 a0001c0014t0001g0052	11	132	0.0833	-23	c.143 others(42): Show c.1434+2897_1434+2919delGTAGATGATAGATAGATAGATAG	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	12/43			chr13	TogoVar
NAPRT_chr8_143569785_143583330	143578369	CGGCCTAT others(16): Show CGGCCTATGGCGCACTCCCTGTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0001 a0003c0026t0001	a0003c0026t0001g0058 a0003c0026t0001g0058	1	402	0.0025	-23	c.-74 others(30): Show c.-74_-52delCCACAGGGAGTGCGCCATAGGCC	NAPRT	ENSG00000147813.16	transcript	ENST00000449291.7	protein_coding		40		chr8	TogoVar
NARS2_chr11_78430968_78579864	78563045	GTATCACA others(16): Show GTATCACACATAAAGGTAGATAAC	G G	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0124 a0001c0001t0005g0124	1	292	0.0034	-23	c.513 others(40): Show c.513+3064_513+3086delGTTATCTACCTTTATGTGTGATA	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	4/13			chr11	TogoVar
NASP_chr1_45579041_45623893	45586261	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	298	0.0034	-23	c.59+ others(38): Show c.59+2080_59+2102delGTGTGTGTGTGTGTGTGTGTGTG	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NASP_chr1_45579041_45623893	45599619	GGGTTTCA others(16): Show GGGTTTCACCATCTTGGCCAGGCT	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18968.hp1 NA18969.hp2 others(9): Show NA18944.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18984.hp2 NA18986.hp2 NA19000.hp2 NA19006.hp2 NA19007.hp1 NA19067.hp2 NA19084.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0173 a0002c0004t0001g0174 a0002c0004t0001g0175 others(9): Show a0002c0004t0001g0173 a0002c0004t0001g0174 a0002c0004t0001g0175 a0002c0004t0001g0176 a0002c0004t0001g0177 a0002c0004t0001g0178 a0002c0004t0001g0179 a0002c0004t0001g0180 a0002c0004t0001g0181 a0002c0004t0001g0182 a0002c0004t0001g0183 a0002c0004t0001g0184	12	298	0.0403	-23	c.108 others(40): Show c.108-2629_108-2607delACCATCTTGGCCAGGCTGGTTTC	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19975942	TAGGAATT others(16): Show TAGGAATTTCTGATTTCGATAATG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00558.hp2 others(52): Show HG00140.hp1 HG00280.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01952.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02155.hp1 HG02280.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG06807.hp1 NA18942.hp1 NA18951.hp1 NA18964.hp2 NA18979.hp2 NA18991.hp2 NA19043.hp1 NA19066.hp2 NA19090.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0014	a0001c0003 a0001c0024 a0001c0028 others(46): Show a0001c0003 a0001c0024 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0034 a0001c0074 a0001c0075 a0001c0078 a0002c0002 a0002c0004 a0002c0009 a0002c0011 a0002c0012 a0002c0014 a0002c0015 a0002c0093 a0002c0096 a0002c0099 a0002c0100 a0002c0119 a0002c0125 a0002c0137 a0002c0138 a0003c0001 a0003c0010 a0003c0016 a0003c0106 a0003c0121 a0003c0134 a0003c0135 a0004c0042 a0004c0043 a0004c0056 a0004c0062 a0004c0064 a0005c0035 a0005c0143 a0006c0022 a0006c0039 a0007c0110 a0007c0114 a0009c0113 a0010c0094 a0011c0104 a0012c0132 a0014c0085	a0001c0003t0026 a0001c0024t0001 a0001c0028t0030 others(47): Show a0001c0003t0026 a0001c0024t0001 a0001c0028t0030 a0001c0029t0006 a0001c0030t0040 a0001c0031t0001 a0001c0032t0001 a0001c0034t0041 a0001c0074t0001 a0001c0075t0002 a0001c0078t0001 a0002c0002t0004 a0002c0004t0001 a0002c0009t0001 a0002c0011t0010 a0002c0012t0003 a0002c0014t0001 a0002c0015t0042 a0002c0093t0001 a0002c0096t0001 a0002c0099t0002 a0002c0100t0002 a0002c0119t0004 a0002c0125t0002 a0002c0137t0017 a0002c0138t0001 a0003c0001t0001 a0003c0001t0006 a0003c0010t0001 a0003c0016t0003 a0003c0106t0001 a0003c0121t0032 a0003c0134t0001 a0003c0135t0039 a0004c0042t0001 a0004c0043t0009 a0004c0056t0013 a0004c0062t0027 a0004c0064t0004 a0005c0035t0001 a0005c0143t0019 a0006c0022t0004 a0006c0039t0003 a0007c0110t0003 a0007c0114t0002 a0009c0113t0001 a0010c0094t0001 a0011c0104t0001 a0012c0132t0014 a0014c0085t0017	a0001c0003t0026g0157 a0001c0024t0001g0047 a0001c0028t0030g0073 others(52): Show a0001c0003t0026g0157 a0001c0024t0001g0047 a0001c0028t0030g0073 a0001c0029t0006g0104 a0001c0030t0040g0055 a0001c0031t0001g0082 a0001c0032t0001g0078 a0001c0034t0041g0112 a0001c0074t0001g0042 a0001c0075t0002g0043 a0001c0078t0001g0122 a0002c0002t0004g0026 a0002c0004t0001g0040 a0002c0004t0001g0095 a0002c0004t0001g0100 a0002c0009t0001g0017 a0002c0011t0010g0146 a0002c0012t0003g0012 a0002c0012t0003g0013 a0002c0014t0001g0033 a0002c0015t0042g0037 a0002c0093t0001g0111 a0002c0096t0001g0130 a0002c0099t0002g0053 a0002c0100t0002g0052 a0002c0119t0004g0103 a0002c0125t0002g0125 a0002c0137t0017g0009 a0002c0138t0001g0035 a0003c0001t0001g0060 a0003c0001t0001g0065 a0003c0001t0001g0098 a0003c0001t0006g0046 a0003c0010t0001g0015 a0003c0016t0003g0117 a0003c0106t0001g0143 a0003c0121t0032g0041 a0003c0134t0001g0050 a0003c0135t0039g0137 a0004c0042t0001g0161 a0004c0043t0009g0147 a0004c0056t0013g0001 a0004c0062t0027g0129 a0004c0064t0004g0016 a0005c0035t0001g0038 a0005c0143t0019g0114 a0006c0022t0004g0124 a0006c0039t0003g0121 a0007c0110t0003g0045 a0007c0114t0002g0105 a0009c0113t0001g0061 a0010c0094t0001g0110 a0011c0104t0001g0063 a0012c0132t0014g0022 a0014c0085t0017g0090	55	166	0.3313	-23	c.264 others(42): Show c.2646-8182_2646-8160delAGGAATTTCTGATTTCGATAATG	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	10/37			chr11	TogoVar
NBEA_chr13_34937270_35677736	35006526	TCCATGTG others(16): Show TCCATGTGTTTTTCCTTTTTCTAG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG02165.hp2 others(5): Show HG00408.hp1 HG00642.hp2 HG02165.hp2 HG04184.hp2 NA18960.hp2 NA18979.hp2 NA18990.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012	a0001c0001t0002g0046 a0001c0001t0004g0035 a0001c0001t0007g0025 others(5): Show a0001c0001t0002g0046 a0001c0001t0004g0035 a0001c0001t0007g0025 a0001c0001t0007g0034 a0001c0001t0007g0036 a0001c0001t0007g0094 a0001c0001t0007g0117 a0001c0001t0012g0032	8	120	0.0667	-23	c.295 others(42): Show c.295-34404_295-34382delATGTGTTTTTCCTTTTTCTAGCC	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBPF11_chr1_148097151_148157281	148115164	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0308 a0002c0002t0002g0308	1	21	0.0476	-23	c.158 others(40): Show c.1585+606_1585+628delTTTTTTTTTTTTTTTTTTTTTTT	NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	14/23			chr1	TogoVar
NBPF11_chr1_148097151_148157281	148132723	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01884.hp1 HG01891.hp1 others(6): Show HG01433.hp2 HG01884.hp1 HG01891.hp1 HG02723.hp1 HG02896.hp2 HG02970.hp2 HG03195.hp1 NA18970.hp2 NA20300.hp2	a0001 a0005 a0009 others(1): Show a0001 a0005 a0009 a0014	a0001c0036 a0005c0004 a0009c0009 others(1): Show a0001c0036 a0005c0004 a0009c0009 a0014c0014	a0001c0036t0001 a0005c0004t0004 a0009c0009t0008 others(1): Show a0001c0036t0001 a0005c0004t0004 a0009c0009t0008 a0014c0014t0003	a0001c0036t0001g0166 a0005c0004t0004g0236 a0009c0009t0008g0037 others(6): Show a0001c0036t0001g0166 a0005c0004t0004g0236 a0009c0009t0008g0037 a0009c0009t0008g0038 a0009c0009t0008g0039 a0009c0009t0008g0040 a0009c0009t0008g0041 a0009c0009t0008g0245 a0014c0014t0003g0251	9	14	0.6429	-23	c.-36 others(40): Show c.-36+2926_-36+2948delAAAAAAAAAAAAAAAAAAAAAAA	NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	4/23			chr1	TogoVar
NCAM1_chr11_112956420_113283436	113225607	GACAACTC others(16): Show GACAACTCCAAGACACTTAATTGT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02055.hp2 HG02622.hp2 others(9): Show HG01123.hp2 HG02055.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0044 a0001c0003t0015	a0001c0001t0001g0092 a0001c0001t0002g0152 a0001c0001t0003g0197 others(9): Show a0001c0001t0001g0092 a0001c0001t0002g0152 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0004g0094 a0001c0001t0004g0199 a0001c0001t0006g0059 a0001c0001t0014g0200 a0001c0001t0015g0120 a0001c0001t0019g0153 a0001c0001t0044g0090 a0001c0003t0015g0196	12	242	0.0496	-23	c.108 others(42): Show c.1089+4283_1089+4305delACAACTCCAAGACACTTAATTGT	NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	9/19			chr11	TogoVar
NCAM1_chr11_112956420_113283436	113277798	GTTCTCTC others(16): Show GTTCTCTCCCATTACACATAGGTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0049 a0001c0014t0049	a0001c0014t0049g0029 a0001c0014t0049g0029	1	242	0.0041	-23	c.24 others(34): Show c.2413_*2435delTCTCTCCCATTACACATAGGTTT	NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	20/20	2413	INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM2_chr21_20993409_21548329	21355507	AAGGGAGG others(16): Show AAGGGAGGGAGAGAGGGAGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(19): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00558.hp2 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01346.hp2 HG01934.hp2 HG02027.hp1 HG02293.hp2 HG02523.hp1 HG02622.hp2 HG02970.hp1 HG03041.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp2 NA19090.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0005c0011	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(11): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0014 a0002c0002t0015 a0002c0002t0025 a0002c0002t0031 a0002c0002t0034 a0002c0002t0035 a0002c0002t0037 a0002c0003t0002 a0002c0003t0017 a0005c0011t0002	a0001c0001t0001g0037 a0002c0002t0001g0018 a0002c0002t0001g0019 others(19): Show a0001c0001t0001g0037 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0036 a0002c0002t0001g0057 a0002c0002t0001g0086 a0002c0002t0003g0020 a0002c0002t0003g0046 a0002c0002t0003g0081 a0002c0002t0003g0100 a0002c0002t0004g0049 a0002c0002t0004g0073 a0002c0002t0014g0119 a0002c0002t0015g0054 a0002c0002t0025g0087 a0002c0002t0031g0039 a0002c0002t0034g0059 a0002c0002t0035g0052 a0002c0002t0037g0063 a0002c0003t0002g0013 a0002c0003t0017g0038 a0005c0011t0002g0127	22	132	0.1667	-23	c.104 others(44): Show c.1044+16993_1044+17015delAGGGAGGGAGGGAGAGAGGGAGG	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAPG2_chr7_158626169_158709804	158639071	CATGTTCA others(16): Show CATGTTCAGGAGGTGTATTCCTCG	C C	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	376	0.0027	-23	c.338 others(42): Show c.3380+5195_3380+5217delCGAGGAATACACCTCCTGAACAT	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	27/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158672312	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	376	0.0027	-23	c.132 others(40): Show c.1327-669_1327-647delAAAAAAATATATATATATATATA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	12/27			chr7	TogoVar
NCK2_chr2_105739912_105899272	105815322	ATAGCCCT others(16): Show ATAGCCCTATTTGAATTATCTTCT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	332	0.0030	-23	c.-20 others(42): Show c.-200-1105_-200-1083delGCCCTATTTGAATTATCTTCTTA	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCKIPSD_chr3_48668844_48690915	48675509	CATATATA others(16): Show CATATATATATATATATATGATAT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	308	0.0032	-23	c.196 others(40): Show c.1966-785_1966-763delATATCATATATATATATATATAT	NCKIPSD	ENSG00000213672.8	transcript	ENST00000294129.7	protein_coding	12/12			chr3	TogoVar
NCMAP_chr1_24551087_24614328	24565284	TGACAGGG others(16): Show TGACAGGGAACTGTTGAATTCAAG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG00639.hp2 others(46): Show HG00558.hp1 HG00639.hp1 HG00639.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01884.hp1 HG01891.hp1 HG01975.hp1 HG02109.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02723.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 NA18906.hp1 NA18999.hp2 NA19043.hp1 NA19088.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0025 a0002c0002t0004 a0002c0002t0012 a0003c0003t0020	a0001c0001t0001g0145 a0001c0001t0001g0286 a0001c0001t0001g0287 others(45): Show a0001c0001t0001g0145 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0321 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0381 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0295 a0001c0001t0003g0146 a0001c0001t0003g0276 a0001c0001t0003g0374 a0001c0001t0003g0386 a0001c0001t0003g0387 a0001c0001t0003g0392 a0001c0001t0003g0393 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0001t0006g0278 a0001c0001t0006g0281 a0001c0001t0006g0283 a0001c0001t0006g0293 a0001c0001t0006g0294 a0001c0001t0006g0315 a0001c0001t0006g0385 a0001c0001t0007g0274 a0001c0001t0010g0272 a0001c0001t0010g0378 a0001c0001t0010g0379 a0001c0001t0025g0316 a0002c0002t0004g0273 a0002c0002t0004g0390 a0002c0002t0004g0391 a0002c0002t0012g0002 a0002c0002t0012g0147 a0003c0003t0020g0275	49	400	0.1225	-23	c.-8+ others(38): Show c.-8+9120_-8+9142delGGGAACTGTTGAATTCAAGGACA	NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
NCMAP_chr1_24551087_24614328	24604596	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	393	0.0025	-23	c.168 others(39): Show c.168-1008_168-986delAAAAAAAAATATATATATATATA	NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
NCMAP_chr1_24551087_24614328	24604598	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG02630.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0148 a0001c0001t0003g0054 a0001c0001t0003g0148	2	395	0.0051	-23	c.168 others(39): Show c.168-1006_168-984delAAAAAAATATATATATATATATA	NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
NCMAP_chr1_24551087_24614328	24604604	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02135.hp2 HG01361.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0050 a0001c0001t0003g0227 a0001c0001t0001g0050 a0001c0001t0003g0227	2	368	0.0054	-23	c.168 others(39): Show c.168-1000_168-978delATATATATATATATATATATATA	NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
NCMAP_chr1_24551087_24614328	24604606	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0352 a0001c0001t0003g0352	1	364	0.0027	-23	c.168 others(38): Show c.168-999_168-977delTATATATATATATATATATATAT	NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3			chr1	TogoVar
NCOA1_chr2_24486254_24775702	24576149	GTTTTTTT others(16): Show GTTTTTTTTTTTTTGTTTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02735.hp1 NA19006.hp2 others(2): Show HG02015.hp2 HG02735.hp1 NA19006.hp2 NA19062.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0232 a0001c0001t0001g0243 a0001c0001t0001g0257 others(2): Show a0001c0001t0001g0232 a0001c0001t0001g0243 a0001c0001t0001g0257 a0001c0001t0001g0272 a0001c0001t0013g0219	5	142	0.0352	-23	c.-25 others(42): Show c.-259-8313_-259-8291delGTTTTTTGTTTTTTTTTTTTTTT	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA1_chr2_24486254_24775702	24699764	ATGAGAAT others(16): Show ATGAGAATCACCTGTTAAAGATAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00423.hp2 others(36): Show HG00099.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01496.hp1 HG01517.hp1 HG02015.hp1 HG02040.hp1 HG02135.hp2 HG02698.hp1 HG03669.hp1 HG03834.hp2 HG04184.hp1 NA18943.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18967.hp2 NA18990.hp1 NA19012.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0022	a0001c0001t0001g0278 a0001c0001t0004g0175 a0001c0001t0004g0176 others(36): Show a0001c0001t0001g0278 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0181 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0008g0182 a0001c0001t0008g0192 a0001c0001t0008g0193 a0001c0001t0008g0197 a0001c0001t0008g0203 a0001c0001t0022g0180	39	312	0.1250	-23	c.949 others(40): Show c.949+1970_949+1992delGAATCACCTGTTAAAGATAGTGA	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA4_chr10_46000088_46035623	46012066	GAAAGAAA others(16): Show GAAAGAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0103 a0002c0004t0005g0103	1	406	0.0025	-23	c.714 others(38): Show c.714+794_714+816delTTTTTTTTTTTTTTTTTTTCTTT	NCOA4	ENSG00000266412.6	transcript	ENST00000581486.6	protein_coding	7/9			chr10	TogoVar

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