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
FAT2_chr5_151499092_151596331	151591238	TGACAGGC others(36): Show TGACAGGCTCCTGAGGGAGGTGCAGAGACTCGGAGCAGGAAGGC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0013 a0006c0005t0013	a0006c0005t0013g0008 a0006c0005t0013g0008	1	396	0.0025	-43	c.-13 others(51): Show c.-137_-95delGCCTTCCTGCTCCGAGTCTCTGCACCTCCCTCAGGAG CCTGTC	FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	1/24	22308		chr5	TogoVar
FAT3_chr11_92219818_92901473	92319344	GGGAAAAA others(36): Show GGGAAAAATACAAAGTGGTAGAATTCATATAACACTGAATGATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01074.hp2 others(61): Show HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02015.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(31): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0015 a0019 a0020 a0021 a0023 a0024 a0025 a0028 a0029 a0030 a0031 a0032 a0034 a0035 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0047 a0048	a0001c0006 a0001c0014 a0001c0035 others(52): Show a0001c0006 a0001c0014 a0001c0035 a0001c0036 a0001c0050 a0001c0051 a0001c0084 a0001c0086 a0002c0001 a0002c0013 a0002c0031 a0003c0011 a0003c0019 a0003c0030 a0003c0032 a0003c0041 a0004c0012 a0004c0048 a0004c0049 a0004c0062 a0005c0038 a0006c0004 a0007c0076 a0007c0077 a0007c0078 a0007c0079 a0009c0044 a0010c0072 a0010c0073 a0011c0064 a0011c0065 a0015c0059 a0019c0060 a0020c0034 a0021c0081 a0023c0075 a0024c0037 a0025c0047 a0028c0074 a0029c0083 a0030c0066 a0031c0056 a0032c0082 a0034c0033 a0035c0040 a0037c0071 a0038c0085 a0039c0069 a0040c0067 a0041c0068 a0042c0054 a0043c0057 a0044c0080 a0047c0055 a0048c0058	a0001c0006t0051 a0001c0006t0068 a0001c0014t0033 others(60): Show a0001c0006t0051 a0001c0006t0068 a0001c0014t0033 a0001c0014t0035 a0001c0035t0032 a0001c0036t0015 a0001c0050t0086 a0001c0051t0089 a0001c0084t0013 a0001c0086t0067 a0002c0001t0009 a0002c0001t0037 a0002c0001t0074 a0002c0013t0004 a0002c0013t0050 a0002c0031t0007 a0003c0011t0005 a0003c0011t0072 a0003c0019t0058 a0003c0030t0005 a0003c0032t0012 a0003c0041t0002 a0004c0012t0002 a0004c0048t0046 a0004c0049t0012 a0004c0062t0059 a0005c0038t0056 a0006c0004t0006 a0006c0004t0016 a0006c0004t0041 a0007c0076t0002 a0007c0077t0057 a0007c0078t0002 a0007c0079t0061 a0009c0044t0008 a0010c0072t0001 a0010c0073t0027 a0011c0064t0040 a0011c0065t0034 a0015c0059t0088 a0019c0060t0084 a0020c0034t0049 a0021c0081t0038 a0023c0075t0063 a0024c0037t0055 a0025c0047t0011 a0028c0074t0085 a0029c0083t0009 a0030c0066t0026 a0031c0056t0071 a0032c0082t0073 a0034c0033t0044 a0035c0040t0002 a0037c0071t0053 a0038c0085t0013 a0039c0069t0045 a0040c0067t0060 a0041c0068t0036 a0042c0054t0024 a0043c0057t0031 a0044c0080t0042 a0047c0055t0075 a0048c0058t0043	a0001c0006t0051g0031 a0001c0006t0068g0021 a0001c0014t0033g0061 others(61): Show a0001c0006t0051g0031 a0001c0006t0068g0021 a0001c0014t0033g0061 a0001c0014t0035g0113 a0001c0035t0032g0068 a0001c0036t0015g0036 a0001c0050t0086g0025 a0001c0051t0089g0016 a0001c0084t0013g0108 a0001c0086t0067g0001 a0002c0001t0009g0104 a0002c0001t0037g0035 a0002c0001t0074g0024 a0002c0013t0004g0056 a0002c0013t0050g0083 a0002c0031t0007g0028 a0003c0011t0005g0051 a0003c0011t0072g0018 a0003c0019t0058g0110 a0003c0030t0005g0098 a0003c0032t0012g0109 a0003c0041t0002g0073 a0004c0012t0002g0052 a0004c0048t0046g0053 a0004c0049t0012g0080 a0004c0062t0059g0118 a0005c0038t0056g0112 a0006c0004t0006g0060 a0006c0004t0006g0111 a0006c0004t0016g0059 a0006c0004t0041g0116 a0007c0076t0002g0062 a0007c0077t0057g0081 a0007c0078t0002g0065 a0007c0079t0061g0114 a0009c0044t0008g0100 a0010c0072t0001g0078 a0010c0073t0027g0050 a0011c0064t0040g0086 a0011c0065t0034g0069 a0015c0059t0088g0015 a0019c0060t0084g0019 a0020c0034t0049g0076 a0021c0081t0038g0039 a0023c0075t0063g0102 a0024c0037t0055g0097 a0025c0047t0011g0063 a0028c0074t0085g0014 a0029c0083t0009g0105 a0030c0066t0026g0058 a0031c0056t0071g0020 a0032c0082t0073g0013 a0034c0033t0044g0054 a0035c0040t0002g0115 a0037c0071t0053g0064 a0038c0085t0013g0107 a0039c0069t0045g0057 a0040c0067t0060g0032 a0041c0068t0036g0085 a0042c0054t0024g0045 a0043c0057t0031g0096 a0044c0080t0042g0084 a0047c0055t0075g0022 a0048c0058t0043g0082	64	116	0.5517	-43	c.-17 others(62): Show c.-17-32725_-17-32683delTATAACACTGAATGATAGGAAAAATA CAAAGTGGTAGAATTCA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FBRSL1_chr12_132485151_132590188	132533241	CGACCCAG others(36): Show CGACCCAGCCTCTCCCTGGAGTCAGAGAGCCTCAGTCTCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0013 a0013	a0013c0064 a0013c0064	a0013c0064t0006 a0013c0064t0006	a0013c0064t0006g0106 a0013c0064t0006g0106	1	346	0.0029	-43	c.615 others(60): Show c.615+5296_615+5338delTGACCCAGCCTCTCCCTGGAGTCAGAGA GCCTCAGTCTCCTCC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132533315	TCAGTCTC others(36): Show TCAGTCTCCTCCCGACCCAGCCTCTCCCTGGAGTCAGAGAGCCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0118 a0002c0004t0002g0118	1	346	0.0029	-43	c.615 others(60): Show c.615+5370_615+5412delACAGTCTCCTCCCGACCCAGCCTCTCCC TGGAGTCAGAGAGCC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXW11_chr5_171856549_172011638	172010691	TATATATA others(36): Show TATATATATATATATATACACACATACATATATATAATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01891.hp2 others(3): Show HG01243.hp2 HG01884.hp1 HG01891.hp2 HG03139.hp2 HG03225.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0139 others(3): Show a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0002t0001g0020 a0001c0002t0001g0023	6	154	0.0390	-43	c.-42 others(54): Show c.-4232_-4190delGTATATATTATATATATGTATGTGTGTATATATA TATATATAT	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding		4054		chr5	TogoVar
FGF14_chr13_101705804_101921945	101850484	ATATATAT others(36): Show ATATATATATATATATATATATATATATATAGAATTATATATTC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG02071.hp1 others(5): Show HG00438.hp1 HG00544.hp1 HG02071.hp1 HG02451.hp1 HG03654.hp1 NA18969.hp2 NA19043.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0017 others(4): Show a0001c0001t0005 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0028 a0001c0001t0141 a0001c0001t0155	a0001c0001t0005g0180 a0001c0001t0012g0192 a0001c0001t0012g0231 others(5): Show a0001c0001t0005g0180 a0001c0001t0012g0192 a0001c0001t0012g0231 a0001c0001t0017g0136 a0001c0001t0019g0222 a0001c0001t0028g0027 a0001c0001t0141g0197 a0001c0001t0155g0257	8	264	0.0303	-43	c.408 others(62): Show c.408+18198_408+18240delGAATATATAATTCTATATATATATAT ATATATATATATATATA	FGF14	ENSG00000102466.17	transcript	ENST00000376143.5	protein_coding	3/4			chr13	TogoVar
FGF14_chr13_101705804_101921945	101850509	TATATAGA others(36): Show TATATAGAATTATATATTCTATATATATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0219 a0001c0001t0050g0219	1	250	0.0040	-43	c.408 others(62): Show c.408+18173_408+18215delCTATATATATATATATATATATATAG AATATATAATTCTATAT	FGF14	ENSG00000102466.17	transcript	ENST00000376143.5	protein_coding	3/4			chr13	TogoVar
FGF22_chr19_634879_649373	644457	CCCCCGGG others(36): Show CCCCCGGGGAAGGGCGGAGGCCAACGCCTCGGTGTTCCTCCGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00438.hp1 others(140): Show HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01123.hp1 HG01243.hp1 HG01346.hp1 HG01346.hp2 HG01928.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp2 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19057.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0008 a0002c0002 others(3): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0007c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0008t0002 a0002c0002t0002 a0002c0002t0007 a0003c0003t0010 a0004c0004t0002 a0007c0005t0002	a0001c0001t0001g0033 a0001c0001t0001g0109 a0001c0001t0002g0001 others(55): Show a0001c0001t0001g0033 a0001c0001t0001g0109 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0071 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0121 a0001c0001t0007g0003 a0001c0001t0007g0009 a0001c0001t0007g0024 a0001c0001t0007g0070 a0001c0001t0010g0069 a0001c0001t0010g0126 a0001c0001t0018g0041 a0001c0008t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0009 a0002c0002t0002g0027 a0002c0002t0002g0035 a0002c0002t0002g0039 a0002c0002t0002g0077 a0002c0002t0007g0008 a0003c0003t0010g0120 a0004c0004t0002g0002 a0007c0005t0002g0086	143	259	0.5521	-43	c.85 others(52): Show c.854_*896delCCCCGGGGAAGGGCGGAGGCCAACGCCTCGGTGTTC CTCCGAT	FGF22	ENSG00000070388.12	transcript	ENST00000215530.7	protein_coding		85		chr19	TogoVar
FGFR4_chr5_177081915_177103144	177092808	ATGCTGCG others(36): Show ATGCTGCGAGATGCCCCTCTGGGCCAGCAGTGGGGGCTGTGGCC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0005 a0004c0009t0005	a0004c0009t0005g0148 a0004c0009t0005g0148	1	370	0.0027	-43	c.105 others(58): Show c.1057+27_1057+69delCTGCGAGATGCCCCTCTGGGCCAGCAGTGG GGGCTGTGGCCTG	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FIP1L1_chr4_53372641_53465862	53465631	TATGGTCC others(36): Show TATGGTCCAGAGCTAGTTGTGTTTATTGCCAAAGAACTTTTTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	390	0.0026	-43	c.61 others(54): Show c.6183_*6225delATGGTCCAGAGCTAGTTGTGTTTATTGCCAAAGA ACTTTTTAA	FIP1L1	ENSG00000145216.17	transcript	ENST00000337488.11	protein_coding		4770		chr4	TogoVar
FLT4_chr5_180596506_180654600	180616047	CCTGCCGG others(36): Show CCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01952.hp2 others(2): Show HG01069.hp1 HG01071.hp2 HG01952.hp2 HG01978.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0128 a0001c0001t0002g0192 others(1): Show a0001c0001t0002g0004 a0001c0001t0002g0128 a0001c0001t0002g0192 a0001c0001t0002g0205	5	388	0.0129	-43	c.321 others(60): Show c.3219+277_3219+319delCCCAGTGCTCCGAAAGGAAGTGGAGAAG GGAGGTGACCGGCAG	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FNDC3A_chr13_48970912_49214779	49158477	TCTTCTGC others(36): Show TCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTC	T T	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18973.hp1 NA18954.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0107 a0001c0002t0001g0090 a0001c0002t0001g0107	2	290	0.0069	-43	c.978 others(60): Show c.978-8764_978-8722delTCTGCGTCGCTCACGCTGGGAGCTGTAG ACCGGAGCTGTTCCT	FNDC3A	ENSG00000102531.16	transcript	ENST00000492622.6	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr13	TogoVar
FOXN3_chr14_89151177_89422233	89361394	CTCCAGCA others(36): Show CTCCAGCACCACCTCCACCACCACCACCTCCACCACCACCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG02273.hp1 others(1): Show HG01175.hp1 HG01243.hp2 HG02273.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0073 a0001c0001t0002 a0001c0001t0017 a0001c0001t0073	a0001c0001t0002g0093 a0001c0001t0002g0145 a0001c0001t0017g0003 others(1): Show a0001c0001t0002g0093 a0001c0001t0002g0145 a0001c0001t0017g0003 a0001c0001t0073g0115	4	228	0.0175	-43	c.544 others(62): Show c.544-10629_544-10587delAGGAGGTGGTGGTGGAGGTGGTGGTG GTGGAGGTGGTGCTGGA	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361411	CCACCACC others(36): Show CCACCACCACCTCCACCACCACCTCCTACCACTACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03492.hp1 HG06807.hp1 HG02559.hp1 HG03492.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0057 a0001c0001t0080 a0001c0003t0070 a0001c0001t0057 a0001c0001t0080 a0001c0003t0070	a0001c0001t0057g0082 a0001c0001t0080g0155 a0001c0003t0070g0215 a0001c0001t0057g0082 a0001c0001t0080g0155 a0001c0003t0070g0215	3	221	0.0136	-43	c.544 others(62): Show c.544-10646_544-10604delCTGGAGGTGGTAGTGGTAGGAGGTGG TGGTGGAGGTGGTGGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXQ1_chr6_1307098_1319758	1315505	CCTAGGCA others(36): Show CCTAGGCAATACAGTTTTAACAATGCATGGATTGCAAAATTTTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0000 a0004c0003t0005g0000	1	404	0.0025	-43	c.15 others(54): Show c.1590_*1632delCTAGGCAATACAGTTTTAACAATGCATGGATTGC AAAATTTTA	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		748		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1315530	CATGGATT others(36): Show CATGGATTGCAAAATTTTAGAGAGTAATACAAACTGTGGGAAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0000 a0003c0002t0004g0000	1	404	0.0025	-43	c.16 others(54): Show c.1615_*1657delATGGATTGCAAAATTTTAGAGAGTAATACAAACT GTGGGAAAT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		773		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1316228	ACAAAGGT others(36): Show ACAAAGGTAGTGTTCCAAAAATCCCGGCTGTTCCGCCCTCCCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0000 a0004c0013t0001g0000	1	404	0.0025	-43	c.23 others(54): Show c.2313_*2355delCAAAGGTAGTGTTCCAAAAATCCCGGCTGTTCCG CCCTCCCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		1471		chr6	TogoVar
FRG2_chr4_190019367_190032256	190030319	TAAAGATG others(36): Show TAAAGATGTGGTCTCACTATGCTGCCCAGGCTGCTCTCAAACTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	400	0.0025	-43	c.-31 others(54): Show c.-3158_-3116delGAGTTTGAGAGCAGCCTGGGCAGCATAGTGAGAC CACATCTTT	FRG2	ENSG00000205097.7	transcript	ENST00000504750.6	protein_coding		3064		chr4	TogoVar
FRMD3_chr9_83239622_83543401	83357226	TTATATAT others(36): Show TTATATATATATAATACATACATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	198	0.0051	-43	c.296 others(60): Show c.296-7512_296-7470delTATATATATATATATATATATATGTATG TATTATATATATATA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	3/13			chr9	TogoVar
FSIP1_chr15_39595031_39787841	39677444	TTCAATTC others(36): Show TTCAATTCTGGTGCTTAGAAAATATTTTTTGACTGAATGAATGA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0122 a0003c0003t0002g0122	1	252	0.0040	-43	c.118 others(64): Show c.1188+35957_1188+35999delTCATTCATTCAGTCAAAAAATATT TTCTAAGCACCAGAATTGA	FSIP1	ENSG00000150667.8	transcript	ENST00000350221.4	protein_coding	10/11			chr15	TogoVar
FSTL5_chr4_161378897_162169000	161779753	GTAAAGTT others(36): Show GTAAAGTTATATATATATATATGTATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG03098.hp1 others(1): Show HG02109.hp1 HG02257.hp1 HG03098.hp1 NA19002.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0006 a0001c0001 a0001c0003 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0004c0006t0002	a0001c0001t0001g0072 a0001c0001t0002g0017 a0001c0003t0002g0003 others(1): Show a0001c0001t0001g0072 a0001c0001t0002g0017 a0001c0003t0002g0003 a0004c0006t0002g0001	4	89	0.0449	-43	c.410 others(60): Show c.410-3722_410-3680delATATATATATATATATATATACATATAT ATATATATAACTTTA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15			chr4	TogoVar
FUT10_chr8_33365824_33478146	33380189	CTATATAT others(36): Show CTATATATATATACTATATATATATACTATATATATATATACTA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0033 a0001c0005t0001g0033	1	253	0.0040	-43	c.121 others(62): Show c.1213-7428_1213-7386delTAGTATATATATATATAGTATATATA TATAGTATATATATATA	FUT10	ENSG00000172728.16	transcript	ENST00000327671.10	protein_coding	4/4			chr8	TogoVar
FUT8_chr14_65407730_65749121	65628699	GATTTTAC others(36): Show GATTTTACTTTACTCTGCAGGTAATCCAGCATGTTGTAATTGAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19000.hp1 HG00544.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0165 a0001c0001t0001g0166	2	372	0.0054	-43	c.483 others(58): Show c.483-789_483-747delTTACTTTACTCTGCAGGTAATCCAGCATGT TGTAATTGAAATT	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
GABPB1_chr15_50270389_50360198	50340880	AATATTAC others(36): Show AATATTACATATTACATATGGTTTATTACCATATGTAATATTAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG01168.hp1 others(14): Show HG00735.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp2 HG02055.hp1 HG02293.hp2 HG02451.hp1 HG02683.hp2 HG03041.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012	a0001c0001t0001g0304 a0001c0001t0002g0026 a0001c0001t0002g0028 others(13): Show a0001c0001t0001g0304 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0004g0007 a0001c0001t0004g0262 a0001c0001t0004g0290 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0010g0295 a0001c0001t0010g0303 a0001c0001t0012g0294	17	289	0.0588	-43	c.-1+ others(60): Show c.-1+14062_-1+14104delGTAATATTACATATGGTAATAAACCATA TGTAATATGTAATAT	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764160	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	201	0.0050	-43	c.240 others(60): Show c.240+8199_240+8241delATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRR2_chr6_89249464_89320299	89292357	TATATATA others(36): Show TATATATATATATATATATATATCAGATATATATCGTATCTCTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(163): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18946.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp2 NA19087.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0004c0010 a0005c0009 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0002t0001 a0001c0002t0005 a0002c0003t0002 a0002c0003t0004 a0004c0010t0002 a0005c0009t0002 a0006c0008t0001	a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0045 others(161): Show a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0258 a0001c0001t0001g0270 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0335 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0002g0278 a0001c0001t0003g0048 a0001c0001t0003g0052 a0001c0001t0003g0059 a0001c0001t0003g0066 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0003g0108 a0001c0001t0003g0114 a0001c0001t0003g0136 a0001c0001t0003g0148 a0001c0001t0003g0152 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0003g0185 a0001c0001t0003g0191 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0251 a0001c0001t0003g0255 a0001c0001t0003g0279 a0001c0001t0003g0311 a0001c0001t0003g0316 a0001c0001t0003g0320 a0001c0001t0005g0046 a0001c0001t0005g0092 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0006g0015 a0001c0001t0006g0024 a0001c0001t0006g0100 a0001c0001t0006g0120 a0001c0001t0006g0305 a0001c0001t0006g0329 a0001c0001t0006g0331 a0001c0001t0007g0049 a0001c0001t0007g0051 a0001c0001t0007g0053 a0001c0001t0007g0072 a0001c0001t0007g0095 a0001c0001t0007g0246 a0001c0001t0008g0038 a0001c0001t0009g0296 a0001c0001t0010g0197 a0001c0001t0011g0005 a0001c0001t0012g0094 a0001c0001t0013g0357 a0001c0001t0015g0167 a0001c0001t0020g0237 a0001c0001t0021g0254 a0001c0001t0022g0021 a0001c0001t0029g0359 a0001c0002t0001g0140 a0001c0002t0001g0272 a0001c0002t0005g0285 a0002c0003t0002g0006 a0002c0003t0002g0027 a0002c0003t0002g0064 a0002c0003t0002g0098 a0002c0003t0002g0099 a0002c0003t0002g0150 a0002c0003t0002g0153 a0002c0003t0002g0154 a0002c0003t0002g0157 a0002c0003t0002g0160 a0002c0003t0002g0163 a0002c0003t0002g0164 a0002c0003t0002g0170 a0002c0003t0002g0179 a0002c0003t0002g0180 a0002c0003t0002g0181 a0002c0003t0002g0224 a0002c0003t0002g0239 a0002c0003t0002g0328 a0002c0003t0002g0336 a0002c0003t0002g0337 a0002c0003t0002g0344 a0002c0003t0002g0350 a0002c0003t0004g0016 a0002c0003t0004g0019 a0002c0003t0004g0020 a0002c0003t0004g0104 a0002c0003t0004g0105 a0002c0003t0004g0139 a0002c0003t0004g0215 a0002c0003t0004g0242 a0002c0003t0004g0277 a0002c0003t0004g0313 a0002c0003t0004g0315 a0002c0003t0004g0317 a0002c0003t0004g0327 a0002c0003t0004g0330 a0004c0010t0002g0342 a0005c0009t0002g0353 a0006c0008t0001g0232	166	361	0.4598	-43	c.220 others(60): Show c.220+7359_220+7401delCAGAGATACGATATATATCTGATATATA TATATATATATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GAK_chr4_844277_937316	918890	CGCCCCAT others(36): Show CGCCCCATGACCTTAGAAAGACAGAAGGCTCCAAAGGCCTCAGT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG02895.hp2 others(3): Show HG02486.hp2 HG02647.hp1 HG02895.hp2 HG02922.hp2 HG03139.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0024 a0001c0001 a0001c0002 a0001c0024	a0001c0001t0001 a0001c0002t0001 a0001c0024t0001 a0001c0001t0001 a0001c0002t0001 a0001c0024t0001	a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0002t0001g0018 a0001c0024t0001g0021	6	173	0.0347	-43	c.146 others(60): Show c.146-5265_146-5223delACTGAGGCCTTTGGAGCCTTCTGTCTTT CTAAGGTCATGGGGC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	918980	CCATGACC others(36): Show CCATGACCTTAGAAAGACAGAAGGCTCCAAAGGCCTCAGTGCCG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02896.hp2 others(2): Show HG02145.hp2 HG02572.hp2 HG02896.hp2 HG02897.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0002g0170 others(2): Show a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0002g0170 a0001c0002t0003g0259 a0001c0002t0003g0375	5	385	0.0130	-43	c.146 others(60): Show c.146-5355_146-5313delCGGCACTGAGGCCTTTGGAGCCTTCTGT CTTTCTAAGGTCATG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241807369	CAGCTTCC others(36): Show CAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0013 a0003c0003t0001g0013	1	312	0.0032	-43	c.32 others(54): Show c.3204_*3246delAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGA AGAGCACCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3083		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807370	AGCTTCCC others(36): Show AGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0011	1	300	0.0033	-43	c.32 others(54): Show c.3205_*3247delGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAA GAGCACCTT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3084		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807564	ACCTTCCC others(36): Show ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	294	0.0034	-43	c.33 others(54): Show c.3399_*3441delCCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCTT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3278		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807845	ACCCTCCC others(36): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 NA18943.hp1 HG02717.hp1 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0150 a0002c0002t0001g0003 a0001c0001t0002g0150 a0002c0002t0001g0003	2	271	0.0074	-43	c.36 others(54): Show c.3680_*3722delCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCTT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3559		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807970	ACCCTCCC others(36): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0027	1	283	0.0035	-43	c.38 others(54): Show c.3805_*3847delCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCTT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3684		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132333026	GCATGTAC others(36): Show GCATGTACCCACGGGGTGCAGAGATGAACCCGTCTGAGAAGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(63): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00673.hp2 HG00733.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG02027.hp1 HG02055.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02280.hp2 HG02615.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02965.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG03942.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp2 NA18980.hp1 NA18999.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19056.hp1 NA19056.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19080.hp2 NA19085.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(23): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0019 a0001c0025 a0001c0026 a0001c0028 a0001c0034 a0001c0035 a0001c0036 a0001c0039 a0001c0040 a0001c0041 a0002c0032 a0006c0024	a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 others(25): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0002 a0001c0009t0002 a0001c0011t0001 a0001c0012t0002 a0001c0014t0003 a0001c0015t0001 a0001c0016t0001 a0001c0017t0001 a0001c0019t0003 a0001c0025t0012 a0001c0026t0014 a0001c0028t0001 a0001c0034t0004 a0001c0035t0009 a0001c0036t0003 a0001c0039t0006 a0001c0040t0007 a0001c0041t0015 a0002c0032t0002 a0006c0024t0001	a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0062 others(63): Show a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0011g0050 a0001c0002t0001g0053 a0001c0002t0001g0057 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0163 a0001c0002t0005g0066 a0001c0003t0001g0162 a0001c0004t0001g0056 a0001c0004t0001g0060 a0001c0004t0001g0157 a0001c0006t0001g0073 a0001c0007t0001g0061 a0001c0007t0001g0159 a0001c0008t0002g0170 a0001c0008t0002g0171 a0001c0008t0002g0172 a0001c0008t0002g0173 a0001c0008t0002g0176 a0001c0008t0002g0182 a0001c0009t0002g0168 a0001c0009t0002g0169 a0001c0009t0002g0174 a0001c0009t0002g0175 a0001c0009t0002g0177 a0001c0011t0001g0058 a0001c0011t0001g0065 a0001c0012t0002g0179 a0001c0012t0002g0180 a0001c0012t0002g0181 a0001c0012t0002g0183 a0001c0014t0003g0146 a0001c0014t0003g0153 a0001c0015t0001g0067 a0001c0016t0001g0054 a0001c0016t0001g0147 a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0019t0003g0077 a0001c0019t0003g0145 a0001c0025t0012g0048 a0001c0026t0014g0052 a0001c0028t0001g0144 a0001c0034t0004g0158 a0001c0035t0009g0140 a0001c0036t0003g0055 a0001c0039t0006g0001 a0001c0040t0007g0002 a0001c0041t0015g0178 a0002c0032t0002g0167 a0006c0024t0001g0160	66	182	0.3626	-43	c.-38 others(54): Show c.-3866_-3824delTGCCTTCTCAGACGGGTTCATCTCTGCACCCCGT GGGTACATG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding		3438		chr12	TogoVar
GCA_chr2_162339132_162368123	162366247	TTTACTGG others(36): Show TTTACTGGCAGTATTTCTTTAATCTTGCTATTCTCATTTAAAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	364	0.0027	-43	c.60 others(54): Show c.6005_*6047delTTACTGGCAGTATTTCTTTAATCTTGCTATTCTC ATTTAAAAG	GCA	ENSG00000115271.11	transcript	ENST00000437150.7	protein_coding		3125		chr2	TogoVar
GCFC2_chr2_75657705_75715915	75672291	ATATATAT others(36): Show ATATATATTTATATATTTATAAATATGTTTATAAAATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0005 a0007c0009t0005	a0007c0009t0005g0277 a0007c0009t0005g0277	1	401	0.0025	-43	c.189 others(60): Show c.1890-318_1890-276delAATATATATTTTATAAACATATTTATAA ATATATAAATATATA	GCFC2	ENSG00000005436.14	transcript	ENST00000321027.8	protein_coding	13/16			chr2	TogoVar
GCH1_chr14_54837017_54907826	54880556	TATATATA others(36): Show TATATATATACTCCATATATATATACTCCATATATATATACTCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	343	0.0029	-43	c.344 others(62): Show c.344-15163_344-15121delGGAGTATATATATATGGAGTATATAT ATATGGAGTATATATAT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GCH1_chr14_54837017_54907826	54880588	TATATATA others(36): Show TATATATACTCCATATATATATATACTCCATATATATATACTCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	344	0.0029	-43	c.344 others(62): Show c.344-15195_344-15153delGGAGTATATATATATGGAGTATATAT ATATATGGAGTATATAT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GFRA1_chr10_116051925_116278206	116207107	TATTTTCT others(36): Show TATTTTCTCATCTGTAAAATGTAAAACTGTAAAACAGTTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18968.hp1 NA18969.hp2 NA18975.hp2 NA18984.hp2 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0002 a0001c0005 others(9): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0001c0013 a0002c0003 a0002c0004 a0002c0014 a0003c0006 a0003c0015 a0005c0009 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(111): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0025 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0001t0051 a0001c0001t0053 a0001c0001t0059 a0001c0001t0060 a0001c0001t0064 a0001c0001t0066 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0078 a0001c0001t0080 a0001c0001t0087 a0001c0001t0090 a0001c0001t0094 a0001c0001t0098 a0001c0001t0099 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0110 a0001c0001t0111 a0001c0001t0114 a0001c0001t0120 a0001c0001t0124 a0001c0001t0128 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0021 a0001c0002t0023 a0001c0002t0024 a0001c0002t0026 a0001c0002t0027 a0001c0002t0033 a0001c0002t0048 a0001c0002t0058 a0001c0002t0063 a0001c0002t0073 a0001c0002t0075 a0001c0002t0079 a0001c0002t0081 a0001c0002t0082 a0001c0002t0083 a0001c0002t0085 a0001c0002t0089 a0001c0002t0091 a0001c0002t0113 a0001c0002t0129 a0001c0005t0046 a0001c0005t0052 a0001c0005t0068 a0001c0005t0133 a0001c0012t0009 a0001c0013t0005 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0003t0008 a0002c0003t0011 a0002c0003t0019 a0002c0003t0034 a0002c0003t0039 a0002c0003t0054 a0002c0003t0076 a0002c0003t0106 a0002c0004t0025 a0002c0004t0028 a0002c0004t0031 a0002c0004t0084 a0002c0004t0109 a0002c0014t0088 a0003c0006t0001 a0003c0006t0023 a0003c0006t0095 a0003c0015t0096 a0005c0009t0086 a0007c0007t0002	a0001c0001t0001g0041 a0001c0001t0001g0090 a0001c0001t0001g0091 others(130): Show a0001c0001t0001g0041 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0108 a0001c0001t0002g0029 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0003g0204 a0001c0001t0004g0079 a0001c0001t0004g0123 a0001c0001t0005g0088 a0001c0001t0006g0130 a0001c0001t0007g0021 a0001c0001t0007g0025 a0001c0001t0008g0020 a0001c0001t0008g0031 a0001c0001t0008g0035 a0001c0001t0011g0152 a0001c0001t0013g0143 a0001c0001t0014g0147 a0001c0001t0015g0184 a0001c0001t0025g0119 a0001c0001t0029g0083 a0001c0001t0031g0134 a0001c0001t0032g0085 a0001c0001t0033g0092 a0001c0001t0036g0172 a0001c0001t0037g0137 a0001c0001t0038g0151 a0001c0001t0040g0138 a0001c0001t0042g0207 a0001c0001t0043g0205 a0001c0001t0044g0209 a0001c0001t0045g0148 a0001c0001t0049g0203 a0001c0001t0051g0182 a0001c0001t0053g0169 a0001c0001t0059g0146 a0001c0001t0060g0145 a0001c0001t0064g0154 a0001c0001t0066g0192 a0001c0001t0070g0167 a0001c0001t0071g0010 a0001c0001t0072g0162 a0001c0001t0074g0165 a0001c0001t0078g0161 a0001c0001t0080g0170 a0001c0001t0087g0017 a0001c0001t0090g0007 a0001c0001t0094g0122 a0001c0001t0098g0059 a0001c0001t0099g0118 a0001c0001t0102g0104 a0001c0001t0103g0113 a0001c0001t0104g0042 a0001c0001t0105g0109 a0001c0001t0110g0043 a0001c0001t0111g0114 a0001c0001t0114g0095 a0001c0001t0120g0096 a0001c0001t0124g0115 a0001c0001t0128g0131 a0001c0002t0001g0039 a0001c0002t0001g0097 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0112 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0160 a0001c0002t0003g0141 a0001c0002t0003g0177 a0001c0002t0006g0053 a0001c0002t0007g0022 a0001c0002t0009g0023 a0001c0002t0010g0180 a0001c0002t0012g0208 a0001c0002t0016g0150 a0001c0002t0017g0191 a0001c0002t0018g0149 a0001c0002t0021g0036 a0001c0002t0023g0075 a0001c0002t0024g0126 a0001c0002t0026g0110 a0001c0002t0027g0116 a0001c0002t0033g0044 a0001c0002t0048g0144 a0001c0002t0058g0213 a0001c0002t0063g0142 a0001c0002t0073g0034 a0001c0002t0075g0038 a0001c0002t0079g0014 a0001c0002t0081g0012 a0001c0002t0082g0009 a0001c0002t0083g0015 a0001c0002t0085g0019 a0001c0002t0089g0006 a0001c0002t0091g0033 a0001c0002t0113g0060 a0001c0002t0129g0051 a0001c0005t0046g0176 a0001c0005t0052g0174 a0001c0005t0068g0175 a0001c0005t0133g0214 a0001c0012t0009g0168 a0001c0013t0005g0062 a0002c0003t0001g0133 a0002c0003t0002g0158 a0002c0003t0004g0082 a0002c0003t0005g0098 a0002c0003t0008g0024 a0002c0003t0011g0178 a0002c0003t0019g0135 a0002c0003t0019g0136 a0002c0003t0034g0001 a0002c0003t0034g0040 a0002c0003t0039g0206 a0002c0003t0054g0171 a0002c0003t0076g0018 a0002c0003t0106g0072 a0002c0004t0025g0124 a0002c0004t0028g0099 a0002c0004t0031g0087 a0002c0004t0084g0032 a0002c0004t0109g0117 a0002c0014t0088g0011 a0003c0006t0001g0047 a0003c0006t0023g0048 a0003c0006t0095g0045 a0003c0015t0096g0046 a0005c0009t0086g0005 a0007c0007t0002g0003	133	212	0.6274	-43	c.433 others(60): Show c.433+4481_433+4523delGAGGAAACTGTTTTACAGTTTTACATTT TACAGATGAGAAAAT	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GHR_chr5_42418439_42726878	42579112	TAGATAGA others(36): Show TAGATAGATAGATAGATAGATAGATAGATGATAGATAGATATAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp1 NA18906.hp1 HG01109.hp1 HG02572.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013	a0001c0001t0002g0137 a0001c0001t0005g0067 a0001c0001t0013g0065 a0001c0001t0002g0137 a0001c0001t0005g0067 a0001c0001t0013g0065	3	199	0.0151	-43	c.70+ others(60): Show c.70+13170_70+13212delGATAGATAGATAGATAGATAGATAGATG ATAGATAGATATAGA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42579116	TAGATAGA others(36): Show TAGATAGATAGATAGATAGATAGATGATAGATAGATATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18522.hp1 NA20300.hp1 HG02280.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0015 a0001c0012t0002 a0001c0001t0015 a0001c0012t0002	a0001c0001t0015g0093 a0001c0001t0015g0094 a0001c0012t0002g0115 a0001c0001t0015g0093 a0001c0001t0015g0094 a0001c0012t0002g0115	3	205	0.0146	-43	c.70+ others(60): Show c.70+13174_70+13216delGATAGATAGATAGATAGATAGATGATAG ATAGATATAGATAGA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42579120	TAGATAGA others(36): Show TAGATAGATAGATAGATAGATGATAGATAGATATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0033 a0003c0005t0007g0033	1	198	0.0051	-43	c.70+ others(60): Show c.70+13178_70+13220delGATAGATAGATAGATAGATGATAGATAG ATATAGATAGATAGA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GINM1_chr6_149561375_149596748	149562276	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	378	0.0026	-43	c.-41 others(54): Show c.-4138_-4096delTATATATATATATATATATATATATATATATATA TATATATTT	GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding		4098		chr6	TogoVar
GJA8_chr1_147897795_147914269	147911874	GTCTCCTT others(36): Show GTCTCCTTATCTCAGGTGGGACATAAGTGTGTGATAGAGCGTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG01243.hp1 others(1): Show HG00741.hp2 HG01123.hp2 HG01243.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0056 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0056	4	470	0.0085	-43	c.26 others(54): Show c.2618_*2660delTCTCCTTATCTCAGGTGGGACATAAGTGTGTGAT AGAGCGTCT	GJA8	ENSG00000121634.6	transcript	ENST00000369235.2	protein_coding		2606		chr1	TogoVar
GLB1L3_chr11_134271379_134324564	134308432	CACCACCA others(36): Show CACCACCACCACCATCACCACCACCACCACCACCACCACCAAAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG02809.hp1 others(3): Show HG01243.hp2 HG02572.hp2 HG02809.hp1 HG02818.hp2 HG03516.hp1 NA18522.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0003 a0009c0019 a0001c0001 a0001c0003 a0009c0019	a0001c0001t0001 a0001c0003t0002 a0009c0019t0001 a0001c0001t0001 a0001c0003t0002 a0009c0019t0001	a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0003t0002g0104 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0003t0002g0104 a0001c0003t0002g0106 a0009c0019t0001g0236	6	420	0.0143	-43	c.962 others(60): Show c.962-1171_962-1129delCCACCACCACCACCACCAAATACCACCA CCACCATCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GMEB2_chr20_63582605_63632101	63626408	CCCTGCGG others(36): Show CCCTGCGGGTCGGGTGCCTGCGGGGTGGCCCCTGGGGATCGCGT	C C	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0270 a0001c0003t0002g0270	1	328	0.0030	-43	c.-58 others(58): Show c.-58+505_-58+547delACGCGATCCCCAGGGGCCACCCCGCAGGCA CCCGACCCGCAGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	1/9			chr20	TogoVar
GNAS_chr20_58834748_58916192	58915950	GAACCTGG others(36): Show GAACCTGGCTGTATCTTTTCAATAACACTATTATGCATACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0148 a0004c0007t0002g0148	1	300	0.0033	-43	c.62 others(54): Show c.6213_*6255delAACCTGGCTGTATCTTTTCAATAACACTATTATG CATACACAC	GNAS	ENSG00000087460.29	transcript	ENST00000371075.7	protein_coding		4759		chr20	TogoVar
GNAS_chr20_58847716_58916192	58915950	GAACCTGG others(36): Show GAACCTGGCTGTATCTTTTCAATAACACTATTATGCATACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0263 a0002c0003t0002g0263	1	300	0.0033	-43	c.51 others(54): Show c.5122_*5164delAACCTGGCTGTATCTTTTCAATAACACTATTATG CATACACAC	GNAS	ENSG00000087460.29	transcript	ENST00000371100.9	protein_coding		4759		chr20	TogoVar
GNAS_chr20_58886421_58916192	58915950	GAACCTGG others(36): Show GAACCTGGCTGTATCTTTTCAATAACACTATTATGCATACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	430	0.0023	-43	c.51 others(54): Show c.5122_*5164delAACCTGGCTGTATCTTTTCAATAACACTATTATG CATACACAC	GNAS	ENSG00000087460.29	transcript	ENST00000371085.8	protein_coding		4759		chr20	TogoVar
GNRHR_chr4_67732118_67759388	67749737	CACTTTTA others(36): Show CACTTTTATATACGATACCTCCAAGACTTGAATTACTGTGCTCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0006 a0004c0006t0006	a0004c0006t0006g0147 a0004c0006t0006g0147	1	386	0.0026	-43	c.522 others(60): Show c.522+4034_522+4076delAGAGCACAGTAATTCAAGTCTTGGAGGT ATCGTATATAAAAGT	GNRHR	ENSG00000109163.7	transcript	ENST00000226413.5	protein_coding	1/2			chr4	TogoVar

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