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
SOX5_chr12_23524504_23954670	23872164	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0065 a0001c0001t0033g0065	1	86	0.0116	27	c.270 others(46): Show c.270+23602_270+23628dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	2/14			chr12	TogoVar
SP100_chr2_230411201_230550606	230414806	A A	ATGAGAGA others(20): Show ATGAGAGAAAGAGAGAGAGACCTACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02809.hp2 HG02257.hp2 HG02559.hp2 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0008 a0002c0005t0001 a0001c0003t0008 a0002c0005t0001	a0001c0003t0008g0002 a0002c0005t0001g0256 a0001c0003t0008g0002 a0002c0005t0001g0256	3	288	0.0104	27	c.-14 others(38): Show c.-1491_-1490insTGAGAGAAAGAGAGAGAGACCTACAGG	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding		1394		chr2	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	6	0.1667	27	c.23 others(38): Show c.2384_*2410dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213869264	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATACGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0086 a0010c0011t0001g0086	1	46	0.0217	27	c.121 others(46): Show c.1214+6637_1214+6638insAAAAAAATATATATATATATATACGT A	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869264	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATACGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19087.hp1 HG02717.hp1 NA19087.hp1	a0003 a0011 a0003 a0011	a0003c0003 a0011c0009 a0003c0003 a0011c0009	a0003c0003t0001 a0011c0009t0001 a0003c0003t0001 a0011c0009t0001	a0003c0003t0001g0080 a0011c0009t0001g0085 a0003c0003t0001g0080 a0011c0009t0001g0085	2	47	0.0426	27	c.121 others(46): Show c.1214+6637_1214+6638insAAAAATATATATATATATATATACGT A	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869264	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATACGTAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0062 a0003c0003t0001g0062	1	46	0.0217	27	c.121 others(46): Show c.1214+6637_1214+6638insAAATATATATATATATATATACGTAT A	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869264	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATACGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03195.hp1 HG02922.hp2 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0043 a0003c0003t0002g0044 a0003c0003t0001g0043 a0003c0003t0002g0044	2	47	0.0426	27	c.121 others(46): Show c.1214+6637_1214+6638insAAATATATATATATATATATATACGT A	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869265	A A	AAAAAAAA others(20): Show AAAAAAAAAAAATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	61	0.0164	27	c.121 others(46): Show c.1214+6637_1214+6638insAAAAAAAAAAATATATATATATATAC G	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869265	A A	AAAAAAAA others(20): Show AAAAAAAAAATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03831.hp2 HG02922.hp1 HG03831.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0001 a0009c0008t0001 a0001c0001t0001 a0009c0008t0001	a0001c0001t0001g0030 a0009c0008t0001g0084 a0001c0001t0001g0030 a0009c0008t0001g0084	2	62	0.0323	27	c.121 others(46): Show c.1214+6637_1214+6638insAAAAAAAAATATATATATATATATAC G	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869265	A A	AAAAAAAA others(20): Show AAAAAAAATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0074	1	61	0.0164	27	c.121 others(46): Show c.1214+6637_1214+6638insAAAAAAATATATATATATATATATAC G	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869265	A A	AAAATATA others(20): Show AAAATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	61	0.0164	27	c.121 others(46): Show c.1214+6637_1214+6638insAAATATATATATATATATATATATAC G	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213949178	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0029 a0003c0003t0001g0029	1	86	0.0116	27	c.140 others(48): Show c.1400+19048_1400+19049insTTTTTTGTTTTGTTTTTTTTTTTT TTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213949179	T T	TTTTTTTT others(20): Show TTTTTTTTTTTGTTTTTTTGTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0086 a0010c0011t0001g0086	1	69	0.0145	27	c.140 others(48): Show c.1400+19044_1400+19045insGTTTTTTTGTTTTTTTGTTTTTTT TTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213949179	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTGTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0031 a0003c0003t0001g0031	1	69	0.0145	27	c.140 others(48): Show c.1400+19047_1400+19048insGTTTTTTTGTTTTGTTTTTTTTTT TTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213949179	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19087.hp1 NA18977.hp1 NA19087.hp1	a0003 a0011 a0003 a0011	a0003c0003 a0011c0009 a0003c0003 a0011c0009	a0003c0003t0001 a0011c0009t0001 a0003c0003t0001 a0011c0009t0001	a0003c0003t0001g0032 a0011c0009t0001g0085 a0003c0003t0001g0032 a0011c0009t0001g0085	2	70	0.0286	27	c.140 others(48): Show c.1400+19048_1400+19049insTTTTTTTGTTTTGTTTTTTTTTTT TTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213949179	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0028 a0003c0003t0001g0028	1	69	0.0145	27	c.140 others(48): Show c.1400+19048_1400+19049insTTTTTTTTTTTTGTTTTTTTTTTT TTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100168687	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0247 a0003c0004t0001g0247	1	112	0.0089	27	c.300 others(44): Show c.300+2725_300+2726insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG1_chr8_100153587_100246904	100213013	C C	CCCGCGGC others(20): Show CCCGCGGCCTCCGCGGCCTCCGCGGCCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0107 a0001c0003t0003g0107	1	106	0.0094	27	c.109 others(42): Show c.1097-52_1097-51insCTCCGCGGCCTCCGCGGCCTCCGCGGC	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	115	0.0087	27	c.-58 others(36): Show c.-580_-579insAAGAAAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG4_chr20_35610829_35626094	35615460	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGAAAAGAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	295	0.0034	27	c.-54 others(36): Show c.-544_-543insAAAGAAAGAAAGAAAGAAAAGAAAAGA	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		368		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 NA18522.hp2 HG02602.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0069 a0001c0001t0001g0011 a0001c0001t0001g0069	2	137	0.0146	27	c.-18 others(38): Show c.-1805_-1804insATATATATATATATATATTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG9_chr17_50957174_51125868	51037691	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG00738.hp2 others(9): Show HG00323.hp2 HG00621.hp1 HG00738.hp2 HG01257.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp1 NA18984.hp2 NA18994.hp2 NA18995.hp2 NA19057.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0001c0001t0001 a0001c0001t0003 a0001c0005t0001	a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 others(9): Show a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0254 a0001c0001t0003g0206 a0001c0005t0001g0258	12	248	0.0484	27	c.741 others(44): Show c.741+3809_741+3810insTATATATATATATATATATATATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPANXD_chrX_141692411_141703739	141699994	A A	ATTGTTTT others(20): Show ATTGTTTTGGATATTAAAGCCTCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0011 a0006c0006t0004g0011	1	334	0.0030	27	c.-15 others(38): Show c.-1590_-1589insGAGAGGAGGCTTTAATATCCAAAACAA	SPANXD	ENSG00000196406.4	transcript	ENST00000370515.3	protein_coding		1256		chrX	TogoVar
SPATA13_chr13_24155720_24312069	24189683	T T	TAATATAT others(20): Show TAATATATAATATATTATATATAAAAGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0064 a0001c0005t0064	a0001c0005t0064g0119 a0001c0005t0064g0119	1	311	0.0032	27	c.-11 others(48): Show c.-112+28752_-112+28753insATATATAATATATTATATATAAAA GCA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24291749	T T	TTAATTTT others(20): Show TTAATTTTTTTTTATTTTTTATTTTTTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp2 HG01433.hp2 others(6): Show HG00140.hp1 HG01123.hp2 HG01433.hp2 HG02622.hp1 HG02886.hp2 HG03098.hp1 HG03209.hp1 HG03490.hp1 NA21309.hp1	a0001 a0002 a0008 others(3): Show a0001 a0002 a0008 a0009 a0010 a0020	a0001c0002 a0002c0007 a0008c0017 others(4): Show a0001c0002 a0002c0007 a0008c0017 a0009c0042 a0009c0045 a0010c0033 a0020c0020	a0001c0002t0012 a0001c0002t0043 a0001c0002t0084 others(6): Show a0001c0002t0012 a0001c0002t0043 a0001c0002t0084 a0002c0007t0021 a0008c0017t0054 a0009c0042t0067 a0009c0045t0092 a0010c0033t0126 a0020c0020t0101	a0001c0002t0012g0221 a0001c0002t0043g0098 a0001c0002t0084g0102 others(6): Show a0001c0002t0012g0221 a0001c0002t0043g0098 a0001c0002t0084g0102 a0002c0007t0021g0156 a0008c0017t0054g0271 a0009c0042t0067g0341 a0009c0045t0092g0071 a0010c0033t0126g0252 a0020c0020t0101g0025	9	353	0.0255	27	c.308 others(44): Show c.3080+866_3080+867insAATTTTTTTTTATTTTTTATTTTTTAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA17_chr1_217626344_217876696	217786750	T T	TTTCTTCT others(20): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA20300.hp2 NA18941.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0014 a0001c0003t0003 a0001c0008t0014	a0001c0003t0003g0235 a0001c0008t0014g0213 a0001c0003t0003g0235 a0001c0008t0014g0213	2	37	0.0541	27	c.872 others(44): Show c.872+4465_872+4491dupTTCTTCTTCTTCTTCTTCTTCTTCTTC	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	116	0.0086	27	c.329 others(44): Show c.329+3627_329+3628insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8			chr17	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01257.hp1 HG01261.hp1 others(10): Show HG00735.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01517.hp2 HG02027.hp1 HG02818.hp1 HG03654.hp1 HG03942.hp1 NA19001.hp1 NA19010.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	13	49	0.2653	27	c.293 others(40): Show c.293+65_293+66insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4648714	T T	TAAATAAA others(20): Show TAAATAAATAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG01243.hp1 others(4): Show HG00408.hp1 HG00639.hp2 HG01243.hp1 HG02071.hp2 HG02559.hp2 HG02735.hp1 HG03139.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0010 a0001c0001 a0003c0003 a0006c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0019 a0003c0003t0005 a0006c0010t0002	a0001c0001t0001g0175 a0001c0001t0003g0025 a0001c0001t0018g0082 others(4): Show a0001c0001t0001g0175 a0001c0001t0003g0025 a0001c0001t0018g0082 a0001c0001t0019g0181 a0003c0003t0005g0068 a0003c0003t0005g0087 a0006c0010t0002g0062	7	134	0.0522	27	c.226 others(44): Show c.226+7326_226+7327insTTTATTTATTTATTTATTTATTTATTT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11			chr9	TogoVar
SPATA7_chr14_88380657_88443460	88415494	T T	TTTTTTTA others(20): Show TTTTTTTAAAAAATAAAATATTTTTTTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02886.hp1 HG03540.hp1 others(1): Show HG02559.hp2 HG02886.hp1 HG03540.hp1 NA19030.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0012 a0004c0004t0001g0280 a0004c0004t0001g0012 a0004c0004t0001g0280	4	362	0.0110	27	c.239 others(44): Show c.239-1211_239-1210insAAAAAATAAAATATTTTTTTGTTTTTT	SPATA7	ENSG00000042317.17	transcript	ENST00000393545.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0047 a0006c0007t0047	a0006c0007t0047g0226 a0006c0007t0047g0226	1	135	0.0074	27	c.39+ others(42): Show c.39+6751_39+6752insAAAAAAATATATATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00735.hp1 others(3): Show HG00423.hp1 HG00597.hp2 HG00735.hp1 NA18974.hp1 NA19067.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0077 a0001c0001t0117 others(1): Show a0001c0001t0023 a0001c0001t0077 a0001c0001t0117 a0001c0001t0143	a0001c0001t0023g0088 a0001c0001t0023g0096 a0001c0001t0023g0104 others(3): Show a0001c0001t0023g0088 a0001c0001t0023g0096 a0001c0001t0023g0104 a0001c0001t0077g0283 a0001c0001t0117g0287 a0001c0001t0143g0136	6	81	0.0741	27	c.71 others(36): Show c.717_*718insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19068.hp2 NA18975.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0147 a0001c0001t0004g0146 a0001c0001t0001g0147 a0001c0001t0004g0146	2	35	0.0571	27	c.114 others(44): Show c.114+6452_114+6453insTATATATATATATATATATATATATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4			chr11	TogoVar
SPDYC_chr11_65165233_65178374	65166391	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	105	0.0095	27	c.-39 others(38): Show c.-3902_-3901insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPDYC	ENSG00000204710.3	transcript	ENST00000377185.3	protein_coding		3841		chr11	TogoVar
SPDYE10_chr7_73099008_73160431	73134523	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02970.hp2 HG03225.hp2 HG02647.hp1 HG02970.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0019 a0001c0005t0002 a0001c0001t0003 a0001c0001t0019 a0001c0005t0002	a0001c0001t0003g0038 a0001c0001t0019g0047 a0001c0005t0002g0146 a0001c0001t0003g0038 a0001c0001t0019g0047 a0001c0005t0002g0146	3	197	0.0152	27	c.-63 others(48): Show c.-639-18982_-639-18981insCTTTCTTTCTTTCTTTCTTTCTTT CTT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73137915	G G	GGGGAAGG others(20): Show GGGGAAGGGGAGGGGAAGGGAAGGGGAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	216	0.0046	27	c.-64 others(48): Show c.-640+17381_-640+17407dupTTCCCCTTCCCTTCCCCTCCCCTT CCC	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102359659	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01358.hp1 HG02027.hp1 others(10): Show HG01175.hp1 HG01358.hp1 HG02027.hp1 HG03688.hp2 HG04115.hp2 NA18943.hp2 NA18967.hp1 NA18969.hp1 NA18989.hp1 NA19011.hp2 NA19058.hp1 NA19065.hp1 NA19091.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0003 a0003c0003t0003g0041 a0003c0003t0003g0107 others(4): Show a0003c0003t0003g0003 a0003c0003t0003g0041 a0003c0003t0003g0107 a0003c0003t0003g0108 a0003c0003t0003g0114 a0003c0003t0003g0120 a0003c0003t0003g0121	13	17	0.7647	27	c.-36 others(38): Show c.-3637_-3636insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding		3216		chr7	TogoVar
SPECC1_chr17_20004359_20324026	20051133	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	123	0.0081	27	c.-22 others(46): Show c.-22+41716_-22+41717insTTTCTTCTTTCCTTCTTTCCTTCTTT C	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTTT others(20): Show ATTATTTTTTTTTTTATTTTTTTTATTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0157 a0001c0014t0002g0157	1	43	0.0233	27	c.284 others(44): Show c.284-9829_284-9828insATTTTTTTTTTTATTTTTTTTATTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTTT others(20): Show ATTATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp1 HG01517.hp1 others(1): Show HG00099.hp1 HG01256.hp1 HG01517.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0006 a0001c0009t0108 a0001c0001t0002 a0001c0001t0006 a0001c0009t0108	a0001c0001t0002g0106 a0001c0001t0002g0172 a0001c0001t0006g0134 others(1): Show a0001c0001t0002g0106 a0001c0001t0002g0172 a0001c0001t0006g0134 a0001c0009t0108g0149	4	46	0.0870	27	c.284 others(44): Show c.284-9829_284-9828insATTTTTTTTTTTTTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20251224	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01517.hp1 others(3): Show HG01074.hp1 HG01099.hp1 HG01517.hp1 HG02055.hp2 HG02280.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0009 a0001c0001 a0001c0008 a0001c0009	a0001c0001t0004 a0001c0001t0014 a0001c0001t0083 others(3): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0083 a0001c0001t0089 a0001c0008t0099 a0001c0009t0108	a0001c0001t0004g0168 a0001c0001t0014g0117 a0001c0001t0083g0199 others(3): Show a0001c0001t0004g0168 a0001c0001t0014g0117 a0001c0001t0083g0199 a0001c0001t0089g0130 a0001c0008t0099g0139 a0001c0009t0108g0149	6	59	0.1017	27	c.259 others(46): Show c.2599-2264_2599-2263insAAAAAAAAAAAAAAAAAAAAAAAAAA A	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPI1_chr11_47349860_47383547	47380561	T T	TTTGTTGT others(20): Show TTTGTTGTTGTTGTTGTTGTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02083.hp2 HG02258.hp1 others(5): Show HG00733.hp2 HG02083.hp2 HG02258.hp1 HG02615.hp1 HG03225.hp1 NA18945.hp2 NA19011.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0018 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0112 a0001c0001t0001g0114	8	13	0.6154	27	c.-22 others(38): Show c.-2209_-2208insCAACAACAACAACAACAACAACAACAA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2015		chr11	TogoVar
SPI1_chr11_47349860_47383547	47381507	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	374	0.0027	27	c.-31 others(38): Show c.-3155_-3154insATATATATATATATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2961		chr11	TogoVar
SPIC_chr12_101470336_101491997	101475690	T T	TTGTGGAG others(20): Show TTGTGGAGCATTTTAGTCAAAGAGAACA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	396	0.0025	27	c.-78 others(42): Show c.-78+192_-78+218dupGGAGCATTTTAGTCAAAGAGAACATGT	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	74	0.0135	27	c.109 others(48): Show c.1098-29818_1098-29817insATATATATATATATATATATATAT ATT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG00438.hp1 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0043 a0001c0001t0002g0045	2	75	0.0267	27	c.109 others(48): Show c.1098-29818_1098-29817insATATATATATATATATATATATAT TTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	74	0.0135	27	c.109 others(48): Show c.1098-29818_1098-29817insATATATATATATATATATTTTTTT TTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPINK5_chr5_148058980_148142382	148123414	T T	TTATATAT others(20): Show TTATATATAGATAGATATTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	222	0.0045	27	c.253 others(44): Show c.2539-411_2539-410insGATAGATATTATCTATCTATATATATA	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINT2_chr19_38259573_38297615	38289484	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	130	0.0077	27	c.391 others(42): Show c.391+296_391+322dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0019 a0001c0001t0014g0019	1	138	0.0072	27	c.372 others(46): Show c.372+19716_372+19717insATATATATTTTTTTTTTTTTTTTTTT T	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar

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