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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SPATA22_chr17_3435019_3476819	3435327	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	38	0.0263	17	c.48 others(28): Show c.4819_*4820insAAAAAAAAAAAAAAAAA		SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding					4691		chr17	TogoVar
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG01192.hp1 others(4): Show HG01106.hp1 HG01106.hp2 HG01192.hp1 HG02040.hp2 HG03098.hp1 HG03834.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0028 a0001c0001t0001g0115 a0001c0001t0001g0135 others(3): Show a0001c0001t0001g0028 a0001c0001t0001g0115 a0001c0001t0001g0135 a0001c0001t0001g0214 a0001c0001t0002g0278 a0001c0001t0003g0134	7	122	0.0574	17	c.329 others(34): Show c.329+3611_329+3627dupTTTTTTTTTTTTTTTTT		SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8						chr17	TogoVar
SPATA31C1_chr9_87912962_87928657	87919241	T T	TTCTTGTT others(10): Show TTCTTGTTCCCAGCGTCA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18978.hp1 NA18978.hp1	a0031 a0031	a0031c0030 a0031c0030	a0031c0030t0001 a0031c0030t0001	a0031c0030t0001g0017 a0031c0030t0001g0017	1	150	0.0067	17	c.190 others(28): Show c.190-8_190-7insTCCCAGCGTCATCTTGT		SPATA31C1	ENSG00000230246.9	transcript	ENST00000706933.1	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31C1_chr9_87912962_87928657	87919268	C C	CCCAGCGT others(10): Show CCCAGCGTCATCTTGTCT	frameshift_variant frameshift_variant	HIGH	HG01257.hp2 HG01257.hp2	a0023 a0023	a0023c0029 a0023c0029	a0023c0029t0001 a0023c0029t0001	a0023c0029t0001g0002 a0023c0029t0001g0002	1	386	0.0026	17	c.206 others(24): Show c.206_222dupAGCGTCATCTTGTCTCC	p.Gln others(4): Show p.Gln75fs	SPATA31C1	ENSG00000230246.9	transcript	ENST00000706933.1	protein_coding	2/4	252/3779	223/3567	75/1188		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02258.hp2 HG02647.hp1 others(1): Show HG01192.hp2 HG02258.hp2 HG02647.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0030 a0001c0001t0001g0056	4	40	0.1000	17	c.293 others(30): Show c.293+49_293+65dupTTTTTTTTTTTTTTTTT		SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31F1_chr9_34718053_34734488	34721934	C C	CCACTGCT others(10): Show CCACTGCTTGTCAGTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	446	0.0022	17	c.12 others(28): Show c.1297_*1298insAAAACTGACAAGCAGTG		SPATA31F1	ENSG00000205108.6	transcript	ENST00000378788.4	protein_coding					1118		chr9	TogoVar
SPATA45_chr1_212825141_212852649	212826759	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00673.hp1 HG00738.hp2 others(30): Show HG00140.hp2 HG00673.hp1 HG00738.hp2 HG01070.hp1 HG01515.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02129.hp1 HG02155.hp1 HG02293.hp2 HG03041.hp2 HG03453.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18960.hp1 NA18964.hp2 NA18968.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp2 NA18992.hp1 NA19001.hp1 NA19002.hp2 NA19070.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0063	33	152	0.2171	17	c.34 others(28): Show c.3482_*3483insTTTTTTTTTTTTTTTTT		SPATA45	ENSG00000185523.6	transcript	ENST00000332912.3	protein_coding					3381		chr1	TogoVar
SPATA5_chr4_122918078_123324433	123311796	T T	TATTAGTA others(10): Show TATTAGTAAATACAGGGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02809.hp2 HG02922.hp1 others(2): Show HG01361.hp1 HG02809.hp2 HG02922.hp1 HG03516.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0016 a0002c0002t0032 others(1): Show a0002c0002t0003 a0002c0002t0016 a0002c0002t0032 a0002c0002t0052	a0002c0002t0003g0161 a0002c0002t0016g0158 a0002c0002t0016g0165 others(2): Show a0002c0002t0003g0161 a0002c0002t0016g0158 a0002c0002t0016g0165 a0002c0002t0032g0159 a0002c0002t0052g0155	5	260	0.0192	17	c.250 others(36): Show c.2506-2092_2506-2091insATTAGTAAATACAGGGA		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	15/15						chr4	TogoVar
SPATA6_chr1_48290373_48477204	48299516	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01081.hp1 HG01168.hp1 others(3): Show HG00140.hp2 HG01081.hp1 HG01168.hp1 HG01255.hp2 HG02965.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0143 a0001c0001t0006g0145 a0001c0001t0006g0146 others(3): Show a0001c0001t0006g0143 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0147 a0001c0001t0006g0151 a0001c0001t0006g0233	6	15	0.4000	17	c.128 others(34): Show c.1287-640_1287-624dupTTTTTTTTTTTTTTTTT		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	12/12						chr1	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0250 a0001c0003t0001g0250	1	135	0.0074	17	c.39+ others(32): Show c.39+6751_39+6752insAAAAAAAAAAAAAAATA		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(10): Show AAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	135	0.0074	17	c.39+ others(32): Show c.39+6751_39+6752insAAAAAAAAAAAAATATA		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(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp2 HG03225.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0045 a0001c0001t0014 a0001c0002t0045	a0001c0001t0014g0134 a0001c0002t0045g0291 a0001c0001t0014g0134 a0001c0002t0045g0291	2	136	0.0147	17	c.39+ others(32): Show c.39+6751_39+6752insAAAAAAAAAAATATATA		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(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	135	0.0074	17	c.39+ others(32): Show c.39+6751_39+6752insAAAAAAAAATATATATA		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(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0069 a0001c0001t0013g0069	1	135	0.0074	17	c.39+ others(32): Show c.39+6751_39+6752insAAAAATATATATATATA		SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200415140	C C	CTGAATTA others(10): Show CTGAATTATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0129 a0001c0001t0010g0129	1	298	0.0034	17	c.149 others(34): Show c.149-1239_149-1238insTGAATTATATATATATA		SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	4/12						chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200477515	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02895.hp2 HG03486.hp2 HG02486.hp2 HG02895.hp2 HG03486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0063 a0002c0004t0012 a0002c0004t0063	a0002c0004t0012g0101 a0002c0004t0012g0145 a0002c0004t0063g0102 a0002c0004t0012g0101 a0002c0004t0012g0145 a0002c0004t0063g0102	3	101	0.0297	17	c.128 others(33): Show c.1282-114_1282-98dupAAAAAAAAAAAAAAAAA		SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0191 a0001c0001t0191	a0001c0001t0191g0178 a0001c0001t0191g0178	1	76	0.0132	17	c.70 others(26): Show c.701_*717dupTTTTTTTTTTTTTTTTT		SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5				717		chr19	TogoVar
SPDL1_chr5_169578773_169609778	169585016	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	150	0.0067	17	c.-24 others(34): Show c.-24+1141_-24+1142insAAAAAAAAAAAAAAAAA		SPDL1	ENSG00000040275.17	transcript	ENST00000265295.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
SPDYA_chr2_28805834_28855610	28824553	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	324	0.0031	17	c.380 others(34): Show c.380+2154_380+2155insCTTTCTTTTTTTTTTTT		SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE10_chr7_73099008_73160431	73111754	C C	CTTTTTTT others(10): Show CTTTTTTTTCTTCTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01981.hp2 HG02486.hp2 others(1): Show HG00609.hp1 HG01981.hp2 HG02486.hp2 NA18989.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0005 a0003c0006 a0001c0002 a0001c0005 a0003c0006	a0001c0002t0001 a0001c0005t0001 a0003c0006t0012 a0001c0002t0001 a0001c0005t0001 a0003c0006t0012	a0001c0002t0001g0099 a0001c0002t0001g0113 a0001c0005t0001g0001 others(1): Show a0001c0002t0001g0099 a0001c0002t0001g0113 a0001c0005t0001g0001 a0003c0006t0012g0135	4	88	0.0455	17	c.130 others(32): Show c.130+368_130+369insAAAAAGAAGAAAAAAAA		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	3/8						chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73123788	C C	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	17	0.0588	17	c.-63 others(36): Show c.-639-8247_-639-8246insAGAGAGAGAGAGAGAGA		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8						chr7	TogoVar
SPDYE17_chr7_77017306_77037361	77030080	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01516.hp2 HG01993.hp1 others(6): Show HG01081.hp2 HG01516.hp2 HG01993.hp1 HG03017.hp2 NA18939.hp1 NA18952.hp2 NA19060.hp2 NA19064.hp2 NA19081.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0002 a0002c0002t0004 a0002c0002t0014 others(1): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0014 a0006c0006t0002	a0002c0002t0002g0019 a0002c0002t0002g0075 a0002c0002t0002g0088 others(4): Show a0002c0002t0002g0019 a0002c0002t0002g0075 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0004g0047 a0002c0002t0014g0044 a0006c0006t0002g0074	9	67	0.1343	17	c.130 others(32): Show c.130+344_130+360dupAAAAAAAAAAAAAAAAA		SPDYE17	ENSG00000186645.11	transcript	ENST00000671986.3	protein_coding	2/7						chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102654324	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0011 a0007c0010t0011	a0007c0010t0011g0019 a0007c0010t0011g0019	1	11	0.0909	17	c.380 others(32): Show c.380-654_380-638dupAAAAAAAAAAAAAAAAA		SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547845	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 NA18990.hp2 HG03704.hp1 NA18990.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0010 a0008c0013t0002 a0001c0001t0010 a0008c0013t0002	a0001c0001t0010g0005 a0008c0013t0002g0088 a0001c0001t0010g0005 a0008c0013t0002g0088	2	161	0.0124	17	c.-38 others(28): Show c.-3865_-3864insAAAGAAAGAAAGAAAGA		SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding					3380		chr7	TogoVar
SPDYE8_chr7_73014719_73034766	73027468	C C	CTTTTTTT others(10): Show CTTTTTTTCTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0034 a0001c0001t0018g0034	1	101	0.0099	17	c.130 others(32): Show c.130+368_130+369insAAAAAAGAAGAAAAAAA		SPDYE8	ENSG00000273520.6	transcript	ENST00000333385.11	protein_coding	2/7						chr7	TogoVar
SPDYE8_chr7_73014719_73034766	73027468	C C	CTTTTTTT others(10): Show CTTTTTTTTCTTCTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02040.hp2 HG02055.hp1 others(1): Show HG01943.hp2 HG02040.hp2 HG02055.hp1 NA18961.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0002c0002t0022 a0001c0001t0002 a0001c0001t0004 a0002c0002t0022	a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0004g0033 others(1): Show a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0004g0033 a0002c0002t0022g0107	4	104	0.0385	17	c.130 others(32): Show c.130+368_130+369insAAAAAGAAGAAAAAAAA		SPDYE8	ENSG00000273520.6	transcript	ENST00000333385.11	protein_coding	2/7						chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24390862	T T	TTTTTTCT others(10): Show TTTTTTCTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0313 a0001c0001t0005g0313	1	321	0.0031	17	c.308 others(38): Show c.3088-20722_3088-20721insTCTTTTTTTTTTCTTTT		SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20251224	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0160 a0001c0001t0014g0160	1	54	0.0185	17	c.259 others(36): Show c.2599-2280_2599-2264dupAAAAAAAAAAAAAAAAA		SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298921	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	223	0.0045	17	c.305 others(36): Show c.3057+1844_3057+1845insGAGAGAGAGAGAGAGAG		SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14						chr17	TogoVar
SPECC1_chr17_20004359_20324026	20317258	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0167 a0001c0001t0086g0167	1	241	0.0041	17	c.31 others(28): Show c.3193_*3194insTTTTTTTTTTTTTTTTT		SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	15/15				3194		chr17	TogoVar
SPECC1_chr17_20004359_20324026	20317259	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01106.hp2 others(15): Show HG00099.hp1 HG00642.hp2 HG01106.hp2 HG01358.hp2 HG01516.hp1 HG02004.hp1 HG02280.hp1 HG03491.hp1 HG03540.hp2 HG04199.hp1 NA18906.hp1 NA18944.hp1 NA18966.hp2 NA19009.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0011 a0001c0001 a0001c0009 a0001c0011	a0001c0001t0006 a0001c0001t0011 a0001c0001t0029 others(5): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0029 a0001c0001t0089 a0001c0001t0090 a0001c0009t0109 a0001c0011t0006 a0001c0011t0011	a0001c0001t0006g0006 a0001c0001t0006g0128 a0001c0001t0006g0134 others(15): Show a0001c0001t0006g0006 a0001c0001t0006g0128 a0001c0001t0006g0134 a0001c0001t0006g0136 a0001c0001t0006g0144 a0001c0001t0006g0147 a0001c0001t0006g0177 a0001c0001t0006g0250 a0001c0001t0011g0107 a0001c0001t0011g0116 a0001c0001t0011g0247 a0001c0001t0029g0122 a0001c0001t0029g0124 a0001c0001t0089g0130 a0001c0001t0090g0151 a0001c0009t0109g0148 a0001c0011t0006g0153 a0001c0011t0011g0154	18	46	0.3913	17	c.31 others(28): Show c.3199_*3215dupTTTTTTTTTTTTTTTTT		SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	15/15				3216	INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35619871	A A	AAGAATGA others(10): Show AAGAATGACTTCATTCTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp2 HG01070.hp2 others(73): Show HG00558.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02056.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18950.hp1 NA18951.hp1 NA18960.hp1 NA18961.hp2 NA18965.hp1 NA18975.hp2 NA18984.hp1 NA19000.hp1 NA19002.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19070.hp1 NA19079.hp2 NA19088.hp2 NA19240.hp2	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0014 a0017 a0020 a0021 a0023 a0025 a0030 a0031 a0032 a0034 a0043	a0001c0003 a0002c0001 a0002c0041 others(24): Show a0001c0003 a0002c0001 a0002c0041 a0003c0004 a0004c0005 a0004c0012 a0005c0006 a0006c0008 a0007c0011 a0007c0016 a0007c0044 a0007c0045 a0008c0009 a0010c0013 a0011c0015 a0011c0024 a0014c0019 a0017c0018 a0020c0053 a0021c0049 a0023c0028 a0025c0047 a0030c0027 a0031c0051 a0032c0036 a0034c0054 a0043c0026	a0001c0003t0001 a0002c0001t0001 a0002c0041t0001 others(24): Show a0001c0003t0001 a0002c0001t0001 a0002c0041t0001 a0003c0004t0001 a0004c0005t0001 a0004c0012t0001 a0005c0006t0001 a0006c0008t0001 a0007c0011t0001 a0007c0016t0001 a0007c0044t0001 a0007c0045t0001 a0008c0009t0001 a0010c0013t0001 a0011c0015t0001 a0011c0024t0001 a0014c0019t0001 a0017c0018t0001 a0020c0053t0001 a0021c0049t0001 a0023c0028t0001 a0025c0047t0001 a0030c0027t0001 a0031c0051t0001 a0032c0036t0001 a0034c0054t0001 a0043c0026t0001	a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0128 others(73): Show a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0128 a0001c0003t0001g0131 a0001c0003t0001g0133 a0001c0003t0001g0264 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0119 a0002c0001t0001g0122 a0002c0001t0001g0123 a0002c0041t0001g0110 a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0006 a0003c0004t0001g0134 a0003c0004t0001g0146 a0003c0004t0001g0147 a0003c0004t0001g0149 a0003c0004t0001g0152 a0003c0004t0001g0153 a0003c0004t0001g0160 a0003c0004t0001g0161 a0003c0004t0001g0162 a0004c0005t0001g0135 a0004c0005t0001g0136 a0004c0005t0001g0137 a0004c0005t0001g0138 a0004c0005t0001g0139 a0004c0005t0001g0140 a0004c0005t0001g0141 a0004c0005t0001g0142 a0004c0005t0001g0143 a0004c0005t0001g0144 a0004c0005t0001g0145 a0004c0005t0001g0148 a0004c0005t0001g0150 a0004c0005t0001g0154 a0004c0005t0001g0156 a0004c0005t0001g0159 a0004c0005t0001g0189 a0004c0012t0001g0114 a0004c0012t0001g0170 a0005c0006t0001g0104 a0005c0006t0001g0106 a0006c0008t0001g0151 a0007c0011t0001g0111 a0007c0011t0001g0112 a0007c0011t0001g0113 a0007c0011t0001g0116 a0007c0016t0001g0127 a0007c0016t0001g0129 a0007c0016t0001g0130 a0007c0044t0001g0115 a0007c0045t0001g0155 a0008c0009t0001g0165 a0008c0009t0001g0166 a0008c0009t0001g0167 a0008c0009t0001g0168 a0008c0009t0001g0169 a0010c0013t0001g0158 a0011c0015t0001g0107 a0011c0015t0001g0109 a0011c0024t0001g0108 a0014c0019t0001g0105 a0017c0018t0001g0120 a0017c0018t0001g0121 a0020c0053t0001g0132 a0021c0049t0001g0163 a0023c0028t0001g0257 a0025c0047t0001g0157 a0030c0027t0001g0258 a0031c0051t0001g0164 a0032c0036t0001g0124 a0034c0054t0001g0185 a0043c0026t0001g0256	76	266	0.2857	17	c.58+ others(32): Show c.58+1816_58+1817insAGAATGACTTCATTCTG		SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	1/36						chr5	TogoVar
SPEN_chr1_15842707_15945456	15904452	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01516.hp1 HG00735.hp2 HG01516.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0031 a0001c0001 a0015c0031	a0001c0001t0001 a0015c0031t0001 a0001c0001t0001 a0015c0031t0001	a0001c0001t0001g0009 a0015c0031t0001g0007 a0001c0001t0001g0009 a0015c0031t0001g0007	2	65	0.0308	17	c.882 others(34): Show c.882-4860_882-4844dupAAAAAAAAAAAAAAAAA		SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPESP1_chr15_68925525_68951811	68941573	G G	GCCTCTTC others(10): Show GCCTCTTCCTCCACATTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG01069.hp2 others(59): Show HG00544.hp2 HG00609.hp1 HG01069.hp2 HG01071.hp2 HG01952.hp2 HG02027.hp2 HG02040.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02523.hp2 HG02630.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp1 HG04228.hp2 NA18747.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18959.hp1 NA18963.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18982.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18992.hp1 NA18999.hp1 NA19001.hp1 NA19004.hp2 NA19058.hp1 NA19060.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp2 NA19076.hp1 NA19078.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0005 a0002c0002 a0003c0003 a0003c0005	a0002c0002t0001 a0003c0003t0001 a0003c0003t0004 others(2): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0004 a0003c0003t0006 a0003c0005t0001	a0002c0002t0001g0050 a0003c0003t0001g0005 a0003c0003t0001g0006 others(15): Show a0002c0002t0001g0050 a0003c0003t0001g0005 a0003c0003t0001g0006 a0003c0003t0001g0023 a0003c0003t0001g0031 a0003c0003t0001g0034 a0003c0003t0001g0037 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0090 a0003c0003t0001g0092 a0003c0003t0004g0086 a0003c0003t0006g0005 a0003c0005t0001g0006 a0003c0005t0001g0091	62	400	0.1550	17	c.65- others(32): Show c.65-4015_65-3999dupCACATTACCTCTTCCTC		SPESP1	ENSG00000258484.4	transcript	ENST00000310673.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr15	TogoVar
SPG11_chr15_44557696_44668662	44611091	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0012 a0003c0003t0001g0012	1	71	0.0141	17	c.314 others(34): Show c.3146-123_3146-107dupTTTTTTTTTTTTTTTTT		SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	17/39						chr15	TogoVar
SPG11_chr15_44557696_44668662	44633324	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0033 a0005c0005t0001g0033	1	27	0.0370	17	c.173 others(34): Show c.1735+164_1735+180dupTTTTTTTTTTTTTTTTT		SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	8/39						chr15	TogoVar
SPHK1_chr17_76379609_76392855	76388640	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 NA18959.hp2 NA18965.hp2 others(1): Show HG01106.hp1 NA18959.hp2 NA18965.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0001 a0001c0001t0001g0001 a0001c0002t0001g0001	4	159	0.0252	17	c.10 others(28): Show c.1054_*1055insTTTTTTTTTTTTTTTTT		SPHK1	ENSG00000176170.14	transcript	ENST00000592299.6	protein_coding					786		chr17	TogoVar
SPHKAP_chr2_227974955_228186687	228154532	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02056.hp1 HG01928.hp2 HG02056.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0002 a0005c0004t0003 a0001c0001t0002 a0005c0004t0003	a0001c0001t0002g0302 a0005c0004t0003g0234 a0001c0001t0002g0302 a0005c0004t0003g0234	2	239	0.0084	17	c.33- others(34): Show c.33-22448_33-22447insATATATATATATATATA		SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11						chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228154533	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0073 a0004c0003t0001g0073	1	221	0.0045	17	c.33- others(34): Show c.33-22449_33-22448insTATATATATATATATAT		SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11						chr2	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01993.hp1 HG03239.hp2 HG01928.hp2 HG01993.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0117 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0117	3	76	0.0395	17	c.109 others(38): Show c.1098-29818_1098-29817insATATATATATATATTTT		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(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	74	0.0135	17	c.109 others(38): Show c.1098-29818_1098-29817insATATATATATATTTTTT		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(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	3	0.3333	17	c.154 others(38): Show c.1545-32932_1545-32916dupTTTTTTTTTTTTTTTTT		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47647654	G G	GAGAGAGA others(10): Show GAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02965.hp2 HG01257.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0082 a0002c0002t0001g0062 a0001c0001t0001g0082 a0002c0002t0001g0062	2	210	0.0095	17	c.154 others(38): Show c.1545-26147_1545-26146insAGAGAGAGAGAGAGAGA		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19						chr8	TogoVar
SPINDOC_chr11_63808456_63832716	63832007	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02293.hp2 HG01069.hp2 HG01071.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0160 a0001c0001t0001g0048 a0001c0001t0001g0160	3	26	0.1154	17	c.48 others(28): Show c.4868_*4869insTTTTTTTTTTTTTTTTT		SPINDOC	ENSG00000168005.9	transcript	ENST00000294244.9	protein_coding					4292		chr11	TogoVar
SPINK4_chr9_33235167_33253567	33237858	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0082 a0002c0002t0002g0082	1	10	0.1000	17	c.-23 others(28): Show c.-2351_-2350insGTGTGTGTGTGTGTGTG		SPINK4	ENSG00000122711.9	transcript	ENST00000379721.4	protein_coding					2308		chr9	TogoVar
SPINK8_chr3_48301842_48338661	48315720	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	129	0.0078	17	c.239 others(34): Show c.239+3760_239+3776dupTTTTTTTTTTTTTTTTT		SPINK8	ENSG00000229453.3	transcript	ENST00000434006.3	protein_coding	6/7						chr3	TogoVar
SPINT2_chr19_38259573_38297615	38289484	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	130	0.0077	17	c.391 others(32): Show c.391+306_391+322dupAAAAAAAAAAAAAAAAA		SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPINT4_chr20_45717347_45730830	45724979	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp2 HG02897.hp2 HG02055.hp1 HG02486.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0091 a0001c0001t0003g0115 a0001c0001t0003g0117	3	352	0.0085	17	c.294 others(32): Show c.294-649_294-633dupAAAAAAAAAAAAAAAAA		SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
SPIRE1_chr18_12441512_12663107	12615327	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	195	0.0051	17	c.372 others(36): Show c.372+19718_372+19734dupTTTTTTTTTTTTTTTTT		SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16						chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0291 a0001c0001t0010g0291	1	138	0.0072	17	c.372 others(36): Show c.372+19716_372+19717insATTTTTTTTTTTTTTTT		SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16						chr18	TogoVar

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