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
SPECC1_chr17_20004359_20324026	20194501	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02155.hp2 NA18944.hp2 others(5): Show HG00408.hp2 HG02155.hp2 NA18944.hp2 NA18975.hp2 NA18980.hp1 NA19012.hp1 NA19068.hp1 NA19076.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0024 a0004c0005t0060 others(3): Show a0004c0005t0008 a0004c0005t0024 a0004c0005t0060 a0004c0005t0067 a0004c0005t0069 a0004c0005t0070	a0004c0005t0008g0231 a0004c0005t0008g0234 a0004c0005t0008g0237 others(5): Show a0004c0005t0008g0231 a0004c0005t0008g0234 a0004c0005t0008g0237 a0004c0005t0024g0236 a0004c0005t0060g0233 a0004c0005t0067g0222 a0004c0005t0069g0232 a0004c0005t0070g0239	8	233	0.0343	11	c.284 others(28): Show c.284-9832_284-9831insTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14			chr17	TogoVar
SPECC1_chr17_20004359_20324026	20251224	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03834.hp2 HG02080.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0105 a0001c0001t0016g0155 a0001c0001t0002g0105 a0001c0001t0016g0155	2	55	0.0364	11	c.259 others(30): Show c.2599-2274_2599-2264dupAAAAAAAAAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298976	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0188 a0001c0001t0087g0188	1	152	0.0066	11	c.305 others(30): Show c.3057+1899_3057+1900insGTGTGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14			chr17	TogoVar
SPECC1_chr17_20004359_20324026	20317259	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02080.hp1 HG02622.hp2 HG03225.hp1 others(3): Show HG02080.hp1 HG02622.hp2 HG03225.hp1 HG06807.hp1 NA19009.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0005 others(1): Show a0001c0001 a0001c0006 a0004c0005 a0004c0015	a0001c0001t0031 a0001c0001t0101 a0001c0006t0055 others(2): Show a0001c0001t0031 a0001c0001t0101 a0001c0006t0055 a0004c0005t0068 a0004c0015t0062	a0001c0001t0031g0178 a0001c0001t0031g0181 a0001c0001t0101g0179 others(3): Show a0001c0001t0031g0178 a0001c0001t0031g0181 a0001c0001t0101g0179 a0001c0006t0055g0014 a0004c0005t0068g0226 a0004c0015t0062g0238	6	34	0.1765	11	c.32 others(22): Show c.3205_*3215dupTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	15/15	3216	INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35614363	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0018 a0012c0014t0001g0018	1	182	0.0055	11	c.-36 others(22): Show c.-3635_-3634insAAAAAAAAAAA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding		3499		chr5	TogoVar
SPEG_chr2_219429843_219498629	219463392	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA18952.hp2 HG02897.hp2 NA18952.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0020 a0001c0001 a0008c0020	a0001c0001t0001 a0008c0020t0002 a0001c0001t0001 a0008c0020t0002	a0001c0001t0001g0060 a0008c0020t0002g0276 a0001c0001t0001g0060 a0008c0020t0002g0276	2	39	0.0513	11	c.270 others(30): Show c.2706-1013_2706-1003dupTTTTTTTTTTT	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding	8/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPEN_chr1_15842707_15945456	15859905	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03225.hp2 NA20300.hp1 others(1): Show HG01167.hp1 HG03225.hp2 NA20300.hp1 NA21309.hp2	a0001 a0006 a0024 a0001 a0006 a0024	a0001c0004 a0001c0028 a0006c0008 others(1): Show a0001c0004 a0001c0028 a0006c0008 a0024c0021	a0001c0004t0001 a0001c0028t0001 a0006c0008t0001 others(1): Show a0001c0004t0001 a0001c0028t0001 a0006c0008t0001 a0024c0021t0001	a0001c0004t0001g0064 a0001c0028t0001g0088 a0006c0008t0001g0099 others(1): Show a0001c0004t0001g0064 a0001c0028t0001g0088 a0006c0008t0001g0099 a0024c0021t0001g0063	4	66	0.0606	11	c.83+ others(28): Show c.83+11769_83+11779dupTTTTTTTTTTT	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPEN_chr1_15842707_15945456	15936642	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0116 a0004c0006t0001g0116	1	186	0.0054	11	c.100 others(30): Show c.10026+379_10026+389dupAAAAAAAAAAA	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPESP1_chr15_68925525_68951811	68942169	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp2 HG02970.hp1 others(3): Show HG02486.hp2 HG02647.hp2 HG02970.hp1 HG03139.hp1 NA18959.hp1 NA20300.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0001 a0002c0002t0005 a0003c0005t0001 a0002c0002t0001 a0002c0002t0005 a0003c0005t0001	a0002c0002t0001g0022 a0002c0002t0001g0095 a0002c0002t0005g0098 others(1): Show a0002c0002t0001g0022 a0002c0002t0001g0095 a0002c0002t0005g0098 a0003c0005t0001g0091	6	322	0.0186	11	c.65- others(26): Show c.65-3428_65-3418dupTTTTTTTTTTT	SPESP1	ENSG00000258484.4	transcript	ENST00000310673.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPG11_chr15_44557696_44668662	44604931	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03516.hp2 HG02109.hp2 HG03516.hp2	a0008 a0010 a0008 a0010	a0008c0007 a0010c0011 a0008c0007 a0010c0011	a0008c0007t0001 a0010c0011t0003 a0008c0007t0001 a0010c0011t0003	a0008c0007t0001g0151 a0010c0011t0003g0173 a0008c0007t0001g0151 a0010c0011t0003g0173	2	93	0.0215	11	c.352 others(30): Show c.3520+1083_3520+1093dupTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	20/39			chr15	TogoVar
SPG11_chr15_44557696_44668662	44611091	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp2 HG03139.hp2 others(2): Show HG02615.hp1 HG02630.hp2 HG03139.hp2 HG03471.hp2 NA20300.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0002 a0006c0006t0001 a0002c0002t0002 a0006c0006t0001	a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 others(2): Show a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0006c0006t0001g0044	5	75	0.0667	11	c.314 others(28): Show c.3146-117_3146-107dupTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	17/39			chr15	TogoVar
SPG7_chr16_89503403_89562766	89543347	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG00621.hp2 others(49): Show HG00323.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00741.hp2 HG01081.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01891.hp1 HG01978.hp2 HG02071.hp1 HG02109.hp1 HG02132.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18942.hp1 NA18960.hp1 NA18960.hp2 NA18972.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA19054.hp2 NA19065.hp2 NA19077.hp1 NA19088.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0002c0015 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0005t0009 a0001c0005t0010 a0002c0002t0002 a0002c0002t0006 a0002c0015t0002 a0003c0003t0002	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0075 others(49): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0231 a0001c0001t0001g0279 a0001c0001t0001g0304 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0260 a0001c0001t0007g0010 a0001c0005t0009g0340 a0001c0005t0010g0238 a0002c0002t0002g0001 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0014 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0072 a0002c0002t0002g0351 a0002c0002t0006g0001 a0002c0015t0002g0041 a0003c0003t0002g0211 a0003c0003t0002g0234 a0003c0003t0002g0236 a0003c0003t0002g0237	52	327	0.1590	11	c.132 others(30): Show c.1325-1294_1325-1284dupTTTTTTTTTTT	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPHK1_chr17_76379609_76392855	76388640	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 NA18992.hp2 HG01169.hp1 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0009 a0001c0002t0001g0001 a0001c0002t0001g0009	2	157	0.0127	11	c.10 others(22): Show c.1054_*1055insTTTTTTTTTTT	SPHK1	ENSG00000176170.14	transcript	ENST00000592299.6	protein_coding		786		chr17	TogoVar
SPHK2_chr19_48614506_48635405	48624992	C C	CAGAGGGC others(4): Show CAGAGGGCAGGG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	396	0.0025	11	c.40- others(24): Show c.40-891_40-881dupAGGGAGAGGGC	SPHK2	ENSG00000063176.16	transcript	ENST00000245222.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPHKAP_chr2_227974955_228186687	228055142	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01891.hp2 HG01978.hp2 others(25): Show HG01192.hp2 HG01891.hp2 HG01978.hp2 HG02056.hp2 HG02109.hp2 HG02258.hp1 HG02572.hp1 HG02615.hp1 HG02717.hp2 HG02738.hp2 HG02895.hp1 HG02970.hp2 HG03098.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG03834.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18967.hp1 NA18979.hp1 NA18986.hp1 NA18992.hp1 NA19074.hp1 NA19088.hp1 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0015 a0003c0005 others(2): Show a0002c0002 a0002c0015 a0003c0005 a0003c0006 a0003c0014	a0002c0002t0001 a0002c0002t0013 a0002c0015t0001 others(5): Show a0002c0002t0001 a0002c0002t0013 a0002c0015t0001 a0003c0005t0005 a0003c0005t0006 a0003c0005t0007 a0003c0006t0001 a0003c0014t0001	a0002c0002t0001g0002 a0002c0002t0001g0012 a0002c0002t0001g0024 others(25): Show a0002c0002t0001g0002 a0002c0002t0001g0012 a0002c0002t0001g0024 a0002c0002t0001g0136 a0002c0002t0001g0173 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0185 a0002c0002t0001g0258 a0002c0002t0001g0268 a0002c0002t0013g0145 a0002c0015t0001g0175 a0003c0005t0005g0086 a0003c0005t0005g0090 a0003c0005t0005g0104 a0003c0005t0006g0115 a0003c0005t0006g0116 a0003c0005t0006g0121 a0003c0005t0006g0122 a0003c0005t0006g0310 a0003c0005t0007g0144 a0003c0006t0001g0007 a0003c0006t0001g0078 a0003c0006t0001g0102 a0003c0006t0001g0103 a0003c0006t0001g0106 a0003c0014t0001g0124 a0003c0014t0001g0125	28	210	0.1333	11	c.247 others(30): Show c.247-27610_247-27600dupTTTTTTTTTTT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228132843	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02145.hp1 HG02486.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0303 a0004c0003t0001g0305 a0004c0003t0001g0303 a0004c0003t0001g0305	2	194	0.0103	11	c.33- others(24): Show c.33-769_33-759dupTTTTTTTTTTT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228154532	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19081.hp1 NA19080.hp1 NA19081.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0009 a0001c0001 a0010c0009	a0001c0001t0002 a0010c0009t0003 a0001c0001t0002 a0010c0009t0003	a0001c0001t0002g0153 a0010c0009t0003g0154 a0001c0001t0002g0153 a0010c0009t0003g0154	2	239	0.0084	11	c.33- others(28): Show c.33-22448_33-22447insAAATATATATA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228154533	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02129.hp2 HG02145.hp2 HG01167.hp1 HG02129.hp2 HG02145.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0005 a0004c0003 a0001c0001 a0003c0005 a0004c0003	a0001c0001t0002 a0003c0005t0001 a0004c0003t0001 a0001c0001t0002 a0003c0005t0001 a0004c0003t0001	a0001c0001t0002g0152 a0003c0005t0001g0248 a0004c0003t0001g0247 a0001c0001t0002g0152 a0003c0005t0001g0248 a0004c0003t0001g0247	3	223	0.0135	11	c.33- others(28): Show c.33-22449_33-22448insTATATATATAT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPI1_chr11_47349860_47383547	47380561	T T	TTGTTGTT others(4): Show TTGTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG03239.hp1 HG01517.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	7	0.2857	11	c.-22 others(22): Show c.-2209_-2208insCAACAACAACA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2015		chr11	TogoVar
SPIB_chr19_50413938_50436314	50420684	G G	GTGGCAGC others(4): Show GTGGCAGCGTCT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0072	1	386	0.0026	11	c.51+ others(24): Show c.51+716_51+726dupAGCGTCTTGGC	SPIB	ENSG00000269404.7	transcript	ENST00000595883.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPICE1_chr3_113437718_113520156	113491624	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02717.hp1 others(4): Show HG01891.hp1 HG02451.hp2 HG02717.hp1 HG02896.hp1 HG03098.hp1 NA19043.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0009 a0001c0002 a0005c0009	a0001c0002t0003 a0001c0002t0007 a0005c0009t0013 a0001c0002t0003 a0001c0002t0007 a0005c0009t0013	a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 others(4): Show a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0007g0257 a0001c0002t0007g0258 a0001c0002t0007g0261 a0005c0009t0013g0243	7	212	0.0330	11	c.492 others(28): Show c.492+1571_492+1581dupTTTTTTTTTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	6/17			chr3	TogoVar
SPICE1_chr3_113437718_113520156	113504571	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02622.hp1 HG03139.hp1 others(2): Show HG01192.hp1 HG02622.hp1 HG03139.hp1 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0259 a0001c0002t0007g0260 a0001c0002t0007g0261 others(2): Show a0001c0002t0007g0259 a0001c0002t0007g0260 a0001c0002t0007g0261 a0001c0002t0007g0264 a0001c0002t0007g0265	5	244	0.0205	11	c.100 others(28): Show c.100-1355_100-1345dupTTTTTTTTTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	2/17			chr3	TogoVar
SPIC_chr12_101470336_101491997	101479172	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	222	0.0045	11	c.98- others(24): Show c.98-408_98-407insGAAAGAAAGAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIC_chr12_101470336_101491997	101479221	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	396	0.0025	11	c.98- others(24): Show c.98-360_98-359insAGAAAGAAAGA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIC_chr12_101470336_101491997	101479289	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0101 a0001c0003t0001g0101	1	396	0.0025	11	c.98- others(24): Show c.98-290_98-280dupGAAAGAAAGAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIC_chr12_101470336_101491997	101479292	G G	GAAAGAAA others(4): Show GAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0001 a0001c0005t0001g0001	1	384	0.0026	11	c.98- others(24): Show c.98-289_98-279dupAAAGAAAGAAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIC_chr12_101470336_101491997	101479307	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	182	0.0055	11	c.98- others(24): Show c.98-273_98-272insGAAAGAAAGAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIDR_chr8_47255938_47741306	47466706	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03225.hp2 HG03453.hp2 others(2): Show HG02602.hp2 HG03225.hp2 HG03453.hp2 HG03491.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(2): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 a0002c0002t0001g0061	5	198	0.0253	11	c.109 others(32): Show c.1097+26166_1097+26176dupAAAAAAAAAAA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47466900	A A	AAATATAT others(4): Show AAATATATAGAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0121 a0004c0004t0002g0121	1	135	0.0074	11	c.109 others(32): Show c.1097+26359_1097+26360insATATATAGATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47640841	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG03704.hp2 HG04204.hp1 others(1): Show HG02300.hp1 HG03704.hp2 HG04204.hp1 NA18982.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0005c0006t0002 a0001c0001t0002 a0005c0006t0002	a0001c0001t0002g0027 a0001c0001t0002g0028 a0005c0006t0002g0014 others(1): Show a0001c0001t0002g0027 a0001c0001t0002g0028 a0005c0006t0002g0014 a0005c0006t0002g0015	4	6	0.6667	11	c.154 others(32): Show c.1545-32926_1545-32916dupTTTTTTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47685497	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	214	0.0047	11	c.168 others(32): Show c.1685+11559_1685+11560insTTTTTTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIN1_chr9_88383444_88483694	88409010	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	174	0.0057	11	c.-15 others(32): Show c.-158-17372_-158-17371insGTGTGTGTGTG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	1/5			chr9	TogoVar
SPIN1_chr9_88383444_88483694	88410161	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	172	0.0058	11	c.-15 others(32): Show c.-158-16221_-158-16220insGTGTGTGTGTG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	1/5			chr9	TogoVar
SPINDOC_chr11_63808456_63832716	63832007	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG02004.hp1 HG02735.hp1 others(6): Show HG01257.hp1 HG02004.hp1 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03669.hp1 HG03704.hp1 NA19064.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0026 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0062 a0001c0001t0001g0099 a0001c0001t0001g0142 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0010t0001g0044	9	32	0.2813	11	c.48 others(22): Show c.4868_*4869insTTTTTTTTTTT	SPINDOC	ENSG00000168005.9	transcript	ENST00000294244.9	protein_coding		4292		chr11	TogoVar
SPINK13_chr5_148263794_148291255	148267272	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02886.hp1 HG02897.hp1 HG02451.hp1 HG02886.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0001g0105 a0001c0001t0002g0004 a0001c0001t0001g0026 a0001c0001t0001g0105 a0001c0001t0002g0004	3	184	0.0163	11	c.-16 others(22): Show c.-1650_-1649insTTTTTTTTTTT	SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding		1521		chr5	TogoVar
SPINK2_chr4_56804861_56826701	56812563	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02080.hp1 HG02135.hp1 others(6): Show HG02027.hp1 HG02080.hp1 HG02135.hp1 NA18941.hp2 NA18963.hp1 NA18985.hp2 NA19000.hp1 NA19012.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0128 a0001c0001t0002g0056 a0001c0001t0002g0057 others(4): Show a0001c0001t0001g0128 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0201 a0001c0001t0002g0215 a0001c0001t0002g0218 a0001c0001t0002g0222	9	228	0.0395	11	c.250 others(26): Show c.250-780_250-770dupTTTTTTTTTTT	SPINK2	ENSG00000128040.13	transcript	ENST00000506738.6	protein_coding	2/3			chr4	TogoVar
SPINK2_chr4_56804861_56826701	56815798	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	422	0.0024	11	c.250 others(28): Show c.250-4005_250-4004insGTGTGTGTGTG	SPINK2	ENSG00000128040.13	transcript	ENST00000506738.6	protein_coding	2/3			chr4	TogoVar
SPINK4_chr9_33235167_33253567	33237858	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0071	1	10	0.1000	11	c.-23 others(22): Show c.-2351_-2350insGTGTGTGTGTG	SPINK4	ENSG00000122711.9	transcript	ENST00000379721.4	protein_coding		2308		chr9	TogoVar
SPINK6_chr5_148198042_148220137	148212576	A A	ATATTTAT others(4): Show ATATTTATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0179	1	436	0.0023	11	c.82- others(26): Show c.82-1333_82-1332insATTTATATATT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK7_chr5_148307423_148320919	148316717	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0002	1	441	0.0023	11	c.10 others(22): Show c.1033_*1034insAAAAAAAAAAT	SPINK7	ENSG00000145879.11	transcript	ENST00000274565.5	protein_coding		799		chr5	TogoVar
SPINK8_chr3_48301842_48338661	48312996	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02698.hp2 HG02738.hp1 others(2): Show HG01175.hp2 HG02698.hp2 HG02738.hp1 HG04204.hp1 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0047 a0002c0002t0001g0048 others(2): Show a0002c0002t0001g0040 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0051 a0002c0002t0001g0062	5	201	0.0249	11	c.240 others(28): Show c.240-3061_240-3051dupTTTTTTTTTTT	SPINK8	ENSG00000229453.3	transcript	ENST00000434006.3	protein_coding	6/7			chr3	TogoVar
SPINK8_chr3_48301842_48338661	48315720	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01081.hp2 HG01175.hp2 others(12): Show HG00597.hp2 HG01081.hp2 HG01175.hp2 HG01255.hp1 HG02027.hp1 NA18612.hp1 NA18612.hp2 NA18953.hp1 NA18970.hp1 NA18972.hp1 NA18978.hp2 NA18999.hp2 NA19079.hp2 NA19086.hp2 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0018 a0002c0002t0001g0031 others(6): Show a0002c0002t0001g0005 a0002c0002t0001g0018 a0002c0002t0001g0031 a0002c0002t0001g0036 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0056 a0002c0002t0001g0062	15	143	0.1049	11	c.239 others(28): Show c.239+3766_239+3776dupTTTTTTTTTTT	SPINK8	ENSG00000229453.3	transcript	ENST00000434006.3	protein_coding	6/7			chr3	TogoVar
SPINT1_chr15_40839048_40863207	40839422	G G	GAAAGAAA others(4): Show GAAAGAAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0067 a0002c0005t0007g0067	1	78	0.0128	11	c.-48 others(22): Show c.-4830_-4829insAAAGAAAAGAA	SPINT1	ENSG00000166145.15	transcript	ENST00000562057.6	protein_coding		4625		chr15	TogoVar
SPINT2_chr19_38259573_38297615	38259640	T T	TATATATA others(4): Show TATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG03130.hp2 HG03490.hp1 others(1): Show HG01516.hp1 HG03130.hp2 HG03490.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0268 others(1): Show a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0268 a0001c0001t0002g0277	4	337	0.0119	11	c.-52 others(22): Show c.-5253_-5252insATATATATATA	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding		4932		chr19	TogoVar
SPINT2_chr19_38259573_38297615	38260736	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 NA18997.hp2 NA19030.hp2 others(1): Show HG02055.hp1 NA18997.hp2 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0303 a0001c0001t0002g0307 a0001c0001t0002g0318 others(1): Show a0001c0001t0002g0303 a0001c0001t0002g0307 a0001c0001t0002g0318 a0001c0003t0001g0299	4	351	0.0114	11	c.-41 others(22): Show c.-4157_-4156insAAAAAAAAAAA	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding		3836		chr19	TogoVar
SPINT2_chr19_38259573_38297615	38285790	T T	TCTATCGT others(4): Show TCTATCGTCAGC	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	398	0.0025	11	c.277 others(28): Show c.277+1994_277+2004dupCTATCGTCAGC	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPINT2_chr19_38259573_38297615	38289484	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02683.hp2 NA19066.hp1 others(1): Show HG01071.hp2 HG02683.hp2 NA19066.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0002g0279 others(1): Show a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0002g0279 a0001c0001t0002g0290	4	133	0.0301	11	c.391 others(26): Show c.391+312_391+322dupAAAAAAAAAAA	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPIRE1_chr18_12441512_12663107	12591968	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0274 a0001c0001t0017g0274	1	130	0.0077	11	c.372 others(30): Show c.372+43083_372+43093dupTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615327	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01167.hp1 HG01169.hp2 others(10): Show HG01074.hp1 HG01167.hp1 HG01169.hp2 HG02451.hp1 HG02486.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03195.hp1 HG06807.hp2 NA19043.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 a0001c0003t0004	a0001c0001t0002g0076 a0001c0001t0002g0238 a0001c0001t0003g0280 others(10): Show a0001c0001t0002g0076 a0001c0001t0002g0238 a0001c0001t0003g0280 a0001c0001t0004g0042 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0021g0227 a0001c0003t0004g0041 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046	13	207	0.0628	11	c.372 others(30): Show c.372+19724_372+19734dupTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18959.hp2 HG02080.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0239 a0001c0001t0002g0099 a0001c0001t0002g0239	2	139	0.0144	11	c.372 others(30): Show c.372+19716_372+19717insATTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar

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