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
SPATA5_chr4_122918078_123324433	123095042	A A	AAAAAAAA others(6): Show AAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	225	0.0044	13	c.234 others(32): Show c.2340+4338_2340+4339insAAAAAAATATATA	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123095042	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	225	0.0044	13	c.234 others(32): Show c.2340+4338_2340+4339insAAAAATATATATA	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123196167	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG04115.hp2 HG02015.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0250 a0001c0001t0001g0252	2	23	0.0870	13	c.234 others(34): Show c.2341-59838_2341-59826dupTTTTTTTTTTTTT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA6L_chr9_4593316_4671480	4606125	A A	AGGAGATT others(6): Show AGGAGATTATATCC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0306 a0001c0001t0006g0306	1	406	0.0025	13	c.996 others(28): Show c.996-686_996-685insGGATATAATCTCC	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	9/11			chr9	TogoVar
SPATA6_chr1_48290373_48477204	48299516	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01517.hp2 others(12): Show HG00735.hp2 HG00738.hp2 HG01517.hp2 HG01952.hp2 HG02109.hp1 HG03017.hp2 HG03669.hp1 HG03834.hp1 NA18940.hp2 NA18965.hp2 NA18966.hp2 NA19062.hp1 NA19080.hp1 NA19081.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0028 others(3): Show a0002c0002t0001 a0002c0002t0005 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031	a0002c0002t0001g0083 a0002c0002t0005g0004 a0002c0002t0005g0059 others(12): Show a0002c0002t0001g0083 a0002c0002t0005g0004 a0002c0002t0005g0059 a0002c0002t0005g0070 a0002c0002t0005g0077 a0002c0002t0005g0078 a0002c0002t0005g0079 a0002c0002t0005g0085 a0002c0002t0005g0088 a0002c0002t0005g0091 a0002c0002t0005g0092 a0002c0002t0028g0086 a0002c0002t0029g0061 a0002c0002t0030g0065 a0002c0002t0031g0075	15	24	0.6250	13	c.128 others(30): Show c.1287-636_1287-624dupTTTTTTTTTTTTT	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	12/12			chr1	TogoVar
SPATA7_chr14_88380657_88443460	88408694	A A	AAGGGAAT others(6): Show AAGGGAATGCTTCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02109.hp1 HG02145.hp2 others(16): Show HG00642.hp2 HG02109.hp1 HG02145.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03195.hp1 HG03209.hp2 HG03540.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19240.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0006c0005 a0004c0004 a0006c0005	a0004c0004t0001 a0006c0005t0001 a0006c0005t0003 a0004c0004t0001 a0006c0005t0001 a0006c0005t0003	a0004c0004t0001g0012 a0004c0004t0001g0013 a0004c0004t0001g0038 others(11): Show a0004c0004t0001g0012 a0004c0004t0001g0013 a0004c0004t0001g0038 a0004c0004t0001g0039 a0004c0004t0001g0279 a0004c0004t0001g0280 a0004c0004t0001g0281 a0004c0004t0001g0282 a0004c0004t0001g0283 a0004c0004t0001g0284 a0004c0004t0001g0285 a0006c0005t0001g0014 a0006c0005t0001g0040 a0006c0005t0003g0015	19	362	0.0525	13	c.239 others(30): Show c.239-8014_239-8002dupGGAATGCTTCCAG	SPATA7	ENSG00000042317.17	transcript	ENST00000393545.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SPATS2L_chr2_200301693_200487264	200396011	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04228.hp1 HG03654.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0265 a0001c0001t0002g0234 a0001c0001t0001g0265 a0001c0001t0002g0234	2	249	0.0080	13	c.39+ others(28): Show c.39+6739_39+6751dupAAAAAAAAAAAAA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0198 a0001c0001t0005g0198	1	135	0.0074	13	c.39+ others(28): Show c.39+6751_39+6752insAAAAAAAAAAATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0015 a0007c0012t0015	a0007c0012t0015g0223 a0007c0012t0015g0223	1	135	0.0074	13	c.39+ others(28): Show c.39+6751_39+6752insAAAAAAAAATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(6): Show AAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19068.hp2 HG03486.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0044 a0002c0004t0012 a0001c0001t0044 a0002c0004t0012	a0001c0001t0044g0261 a0002c0004t0012g0101 a0001c0001t0044g0261 a0002c0004t0012g0101	2	136	0.0147	13	c.39+ others(28): Show c.39+6751_39+6752insAAAAAAATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG01891.hp1 HG02145.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0009 a0003c0008t0058 a0001c0001t0009 a0003c0008t0058	a0001c0001t0009g0153 a0003c0008t0058g0099 a0001c0001t0009g0153 a0003c0008t0058g0099	2	136	0.0147	13	c.39+ others(28): Show c.39+6751_39+6752insAAAAATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0276 a0001c0001t0027g0276	1	135	0.0074	13	c.39+ others(28): Show c.39+6751_39+6752insAAATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0010 a0001c0001t0032g0010	1	135	0.0074	13	c.39+ others(28): Show c.39+6751_39+6752insATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	ATATAAAT others(6): Show ATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0020 a0002c0004t0012g0020	1	135	0.0074	13	c.39+ others(28): Show c.39+6750_39+6751insTATAAATATATAT	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12			chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200477515	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02615.hp2 others(3): Show HG02258.hp1 HG02280.hp2 HG02615.hp2 HG02818.hp2 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0030 a0001c0002t0070 a0001c0002t0016 a0001c0002t0030 a0001c0002t0070	a0001c0002t0016g0280 a0001c0002t0016g0282 a0001c0002t0016g0284 others(3): Show a0001c0002t0016g0280 a0001c0002t0016g0282 a0001c0002t0016g0284 a0001c0002t0030g0100 a0001c0002t0030g0141 a0001c0002t0070g0147	6	104	0.0577	13	c.128 others(29): Show c.1282-110_1282-98dupAAAAAAAAAAAAA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2_chr12_49362462_49532425	49498145	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	26	0.0385	13	c.703 others(30): Show c.703+1137_703+1138insAAAAATATATATA	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPATS2_chr12_49362462_49532425	49498145	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0056 a0001c0001t0008g0056	1	26	0.0385	13	c.703 others(30): Show c.703+1137_703+1138insAAATATATATATA	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPATS2_chr12_49362462_49532425	49498145	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0064 a0001c0001t0013g0064	1	26	0.0385	13	c.703 others(30): Show c.703+1137_703+1138insATATATATATATA	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPATS2_chr12_49362462_49532425	49498145	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	26	0.0385	13	c.703 others(30): Show c.703+1136_703+1137insTATATATATATAT	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	8/13			chr12	TogoVar
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp1 HG02738.hp2 NA18997.hp2 others(4): Show HG02074.hp1 HG02738.hp2 NA18997.hp2 NA19006.hp2 NA19030.hp2 NA19065.hp1 NA19077.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0019 a0001c0001t0124 a0001c0001t0127 others(2): Show a0001c0001t0019 a0001c0001t0124 a0001c0001t0127 a0003c0002t0089 a0003c0002t0171	a0001c0001t0019g0259 a0001c0001t0019g0264 a0001c0001t0019g0271 others(4): Show a0001c0001t0019g0259 a0001c0001t0019g0264 a0001c0001t0019g0271 a0001c0001t0124g0192 a0001c0001t0127g0195 a0003c0002t0089g0305 a0003c0002t0171g0191	7	82	0.0854	13	c.70 others(22): Show c.705_*717dupTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	34	0.0294	13	c.114 others(30): Show c.114+6452_114+6453insTATATATATATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4			chr11	TogoVar
SPDYA_chr2_28805834_28855610	28819863	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	332	0.0030	13	c.294 others(28): Show c.294+758_294+770dupATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28823745	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA19056.hp2 HG03927.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0223 a0001c0001t0001g0225	2	322	0.0062	13	c.380 others(30): Show c.380+1335_380+1336insTATATATATATAT	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	5/7			chr2	TogoVar
SPDYC_chr11_65165233_65178374	65166391	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18960.hp1 NA18977.hp2 others(2): Show NA18955.hp2 NA18960.hp1 NA18977.hp2 NA19007.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	5	109	0.0459	13	c.-39 others(24): Show c.-3902_-3901insTTTTTTTTTTTTT	SPDYC	ENSG00000204710.3	transcript	ENST00000377185.3	protein_coding		3841		chr11	TogoVar
SPDYE10_chr7_73099008_73160431	73123788	C C	CCCTCTCT others(6): Show CCCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	17	0.0588	13	c.-63 others(32): Show c.-639-8247_-639-8246insAGAGAGAGAGAGG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73123788	C C	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp2 HG03831.hp1 HG02148.hp1 HG02148.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0191 a0001c0002t0001g0003 a0001c0002t0001g0104 a0001c0001t0003g0191 a0001c0002t0001g0003 a0001c0002t0001g0104	3	19	0.1579	13	c.-63 others(32): Show c.-639-8247_-639-8246insAGAGAGAGAGAGA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73131203	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0005 a0001c0005t0005g0005	1	95	0.0105	13	c.-63 others(34): Show c.-639-15674_-639-15662dupTTTTTTTTTTTTT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73134523	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	195	0.0051	13	c.-63 others(34): Show c.-639-18982_-639-18981insCTTTCTTTCTTTC	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73150907	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0008 a0003c0006t0008	a0003c0006t0008g0124 a0003c0006t0008g0124	1	165	0.0061	13	c.-64 others(32): Show c.-640+4415_-640+4416insATATATATTTTTT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102654324	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG03540.hp1 HG01928.hp1 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0004 a0003c0003 a0003c0004	a0003c0003t0004 a0003c0004t0005 a0003c0003t0004 a0003c0004t0005	a0003c0003t0004g0102 a0003c0004t0005g0046 a0003c0003t0004g0102 a0003c0004t0005g0046	2	12	0.1667	13	c.380 others(28): Show c.380-650_380-638dupAAAAAAAAAAAAA	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102656441	T T	TTTTTTTT others(6): Show TTTTTTTTTGTGTG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	66	0.0152	13	c.669 others(28): Show c.669+136_669+137insTTTTTTTGTGTGT	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102664310	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 NA19002.hp1 HG01975.hp2 NA19002.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0004 a0001c0005t0003g0009 a0001c0005t0003g0004 a0001c0005t0003g0009	2	56	0.0357	13	c.32 others(24): Show c.3210_*3211insTTTTTTTTTTTTT	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		1686		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547845	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02818.hp2 HG02735.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0015 a0001c0001t0010 a0001c0001t0015	a0001c0001t0010g0005 a0001c0001t0015g0013 a0001c0001t0010g0005 a0001c0001t0015g0013	2	161	0.0124	13	c.-38 others(24): Show c.-3865_-3864insAAAGAAAGAAAGA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3380		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102557336	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0005 a0001c0032t0005	a0001c0032t0005g0067 a0001c0032t0005g0067	1	85	0.0118	13	c.669 others(28): Show c.669+118_669+130dupTTTTTTTTTTTTT	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102559002	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0045 a0001c0001t0021g0045	1	12	0.0833	13	c.755 others(28): Show c.755+465_755+477dupAAAAAAAAAAAAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102565227	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0002 a0003c0022t0002	a0003c0022t0002g0099 a0003c0022t0002g0099	1	76	0.0132	13	c.32 others(24): Show c.3217_*3218insTTTTTTTTTTTTT	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		1690		chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102359659	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0010 a0003c0003t0003g0010	1	5	0.2000	13	c.-36 others(24): Show c.-3637_-3636insTTTTTTTTTTTTT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding		3216		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24288615	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18747.hp1 HG02080.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0036 a0001c0001t0004 a0001c0001t0036	a0001c0001t0004g0024 a0001c0001t0036g0034 a0001c0001t0004g0024 a0001c0001t0036g0034	2	102	0.0196	13	c.-38 others(32): Show c.-38+11829_-38+11841dupTTTTTTTTTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24383792	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp1 HG01243.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0249 a0001c0001t0001g0051 a0001c0001t0001g0249	2	6	0.3333	13	c.308 others(34): Show c.3087+14500_3087+14512dupTTTTTTTTTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24390855	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02027.hp2 HG02055.hp1 others(7): Show HG01261.hp2 HG02027.hp2 HG02055.hp1 HG02109.hp1 HG02293.hp1 HG02615.hp1 NA18977.hp2 NA18980.hp1 NA19077.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0002t0011	a0001c0001t0002g0294 a0001c0001t0003g0189 a0001c0001t0005g0312 others(7): Show a0001c0001t0002g0294 a0001c0001t0003g0189 a0001c0001t0005g0312 a0001c0002t0002g0039 a0001c0002t0002g0108 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0194 a0001c0002t0002g0291 a0001c0002t0011g0122	10	324	0.0309	13	c.308 others(34): Show c.3088-20722_3088-20721insTCTTTTTTTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24390856	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18978.hp2 HG04204.hp1 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0198 a0001c0002t0002g0306 a0001c0002t0002g0198 a0001c0002t0002g0306	2	251	0.0080	13	c.308 others(34): Show c.3088-20722_3088-20721insTTCTTTTTTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24390870	T T	TTTTTTTT others(6): Show TTTTTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02572.hp1 others(1): Show HG01891.hp2 HG02451.hp1 HG02572.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0085 a0001c0001t0012g0320 a0001c0001t0012g0321 others(1): Show a0001c0001t0009g0085 a0001c0001t0012g0320 a0001c0001t0012g0321 a0001c0001t0012g0323	4	324	0.0123	13	c.308 others(34): Show c.3088-20717_3088-20716insTTTTTTCTTTTCT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20110077	T T	TCCTCCCA others(6): Show TCCTCCCACCTCAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0056 a0001c0003t0056	a0001c0003t0056g0189 a0001c0003t0056g0189	1	248	0.0040	13	c.148 others(28): Show c.148-342_148-330dupCCTCAGCCTCCCA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20194501	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0010 a0004c0005t0010	a0004c0005t0010g0225 a0004c0005t0010g0225	1	226	0.0044	13	c.284 others(30): Show c.284-9832_284-9831insTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14			chr17	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTTT others(6): Show ATTATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	43	0.0233	13	c.284 others(30): Show c.284-9829_284-9828insATTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20239857	C C	CTTTAATT others(6): Show CTTTAATTTGCATT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0069 a0004c0005t0069	a0004c0005t0069g0232 a0004c0005t0069g0232	1	248	0.0040	13	c.235 others(32): Show c.2352-6067_2352-6055dupTTAATTTGCATTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20251224	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0106 a0001c0016t0106	a0001c0016t0106g0103 a0001c0016t0106g0103	1	54	0.0185	13	c.259 others(32): Show c.2599-2276_2599-2264dupAAAAAAAAAAAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298921	A A	AAAGAGAG others(6): Show AAAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	223	0.0045	13	c.305 others(32): Show c.3057+1845_3057+1846insAGAGAGAGAGAGA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20317257	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0094 a0001c0006t0094	a0001c0006t0094g0193 a0001c0006t0094g0193	1	248	0.0040	13	c.31 others(24): Show c.3192_*3193insTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	15/15	3193		chr17	TogoVar
SPECC1_chr17_20004359_20324026	20317258	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0092 a0001c0008t0092	a0001c0008t0092g0158 a0001c0008t0092g0158	1	241	0.0041	13	c.31 others(24): Show c.3193_*3194insTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	15/15	3194		chr17	TogoVar

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