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
SORCS1_chr10_106568663_107169706	106700442	AAACAAAC others(19): Show AAACAAACAAACGAAAACAAAGATTGC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(72): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02135.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03516.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18971.hp2 NA18977.hp2 NA18995.hp1 NA18995.hp2 NA19030.hp2 NA19043.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0019 a0001c0027 a0001c0028 a0002c0006 a0003c0015 a0004c0023 a0004c0024 a0004c0025 a0005c0010 a0007c0011 a0008c0029 a0010c0012 a0011c0016 a0012c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0022 a0001c0004t0002 a0001c0004t0004 a0001c0004t0014 a0001c0004t0023 a0001c0005t0001 a0001c0005t0002 a0001c0019t0001 a0001c0027t0002 a0001c0028t0002 a0002c0006t0001 a0003c0015t0005 a0004c0023t0006 a0004c0024t0001 a0004c0025t0001 a0005c0010t0001 a0007c0011t0001 a0008c0029t0005 a0010c0012t0005 a0011c0016t0002 a0012c0021t0011	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0110 others(72): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0110 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0084 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0003g0083 a0001c0001t0004g0004 a0001c0001t0004g0072 a0001c0001t0004g0080 a0001c0001t0004g0101 a0001c0001t0009g0121 a0001c0001t0017g0118 a0001c0001t0018g0085 a0001c0001t0019g0104 a0001c0002t0001g0037 a0001c0002t0001g0041 a0001c0002t0001g0122 a0001c0002t0003g0026 a0001c0002t0003g0032 a0001c0002t0003g0075 a0001c0002t0003g0081 a0001c0002t0003g0112 a0001c0002t0003g0114 a0001c0002t0006g0057 a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0001g0056 a0001c0003t0001g0070 a0001c0003t0001g0086 a0001c0003t0001g0089 a0001c0003t0001g0100 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0120 a0001c0003t0002g0005 a0001c0003t0002g0029 a0001c0003t0002g0097 a0001c0003t0022g0129 a0001c0004t0002g0093 a0001c0004t0002g0102 a0001c0004t0002g0115 a0001c0004t0004g0107 a0001c0004t0014g0088 a0001c0004t0023g0130 a0001c0005t0001g0062 a0001c0005t0001g0109 a0001c0005t0002g0022 a0001c0005t0002g0030 a0001c0019t0001g0016 a0001c0027t0002g0123 a0001c0028t0002g0124 a0002c0006t0001g0014 a0002c0006t0001g0017 a0002c0006t0001g0050 a0002c0006t0001g0105 a0003c0015t0005g0007 a0004c0023t0006g0091 a0004c0024t0001g0040 a0004c0025t0001g0044 a0005c0010t0001g0125 a0005c0010t0001g0126 a0007c0011t0001g0008 a0008c0029t0005g0127 a0010c0012t0005g0067 a0011c0016t0002g0054 a0012c0021t0011g0076	75	130	0.5769	-26	c.123 others(45): Show c.1234-1075_1234-1050delGCAATCTTTGTTTTCGTTTGTTTGTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	8/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7387725	TACACATT others(19): Show TACACATTTGCACACATGCACACACAG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0151 a0001c0009t0001g0151	1	168	0.0060	-26	c.481 others(43): Show c.481-8561_481-8536delCACATTTGCACACATGCACACACAGA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7441812	CACCCTCC others(19): Show CACCCTCCACCCCCTCCCCCAGCCCAG	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02970.hp1 NA18906.hp2 HG01934.hp2 HG02970.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0012 a0001c0001 a0001c0002 a0003c0012	a0001c0001t0054 a0001c0002t0003 a0003c0012t0046 a0001c0001t0054 a0001c0002t0003 a0003c0012t0046	a0001c0001t0054g0007 a0001c0002t0003g0082 a0003c0012t0046g0033 a0001c0001t0054g0007 a0001c0002t0003g0082 a0003c0012t0046g0033	3	166	0.0181	-26	c.548 others(45): Show c.548+45459_548+45484delCCCTCCACCCCCTCCCCCAGCCCAGA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7461896	GTGCTGTC others(19): Show GTGCTGTCCCGCAGGCTTCAGTGCCTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG01109.hp1 others(33): Show HG00099.hp1 HG00438.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp2 HG01243.hp1 HG01952.hp2 HG02109.hp1 HG02280.hp1 HG02293.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03688.hp1 HG03688.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA20752.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0010 a0016 a0018	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0011 a0001c0028 a0002c0004 a0003c0012 a0004c0044 a0005c0022 a0010c0032 a0016c0040 a0018c0025	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(30): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0054 a0001c0001t0058 a0001c0002t0011 a0001c0002t0044 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014 a0001c0003t0015 a0001c0003t0050 a0001c0005t0001 a0001c0005t0005 a0001c0005t0006 a0001c0005t0008 a0001c0005t0016 a0001c0010t0059 a0001c0010t0060 a0001c0011t0015 a0001c0028t0027 a0002c0004t0007 a0002c0004t0022 a0003c0012t0034 a0004c0044t0041 a0005c0022t0033 a0010c0032t0019 a0016c0040t0003 a0018c0025t0019	a0001c0001t0002g0130 a0001c0001t0003g0097 a0001c0001t0004g0048 others(33): Show a0001c0001t0002g0130 a0001c0001t0003g0097 a0001c0001t0004g0048 a0001c0001t0004g0098 a0001c0001t0006g0125 a0001c0001t0007g0111 a0001c0001t0012g0047 a0001c0001t0013g0099 a0001c0001t0054g0007 a0001c0001t0058g0161 a0001c0002t0011g0112 a0001c0002t0044g0019 a0001c0003t0009g0135 a0001c0003t0010g0001 a0001c0003t0014g0140 a0001c0003t0015g0091 a0001c0003t0050g0005 a0001c0005t0001g0156 a0001c0005t0005g0102 a0001c0005t0006g0157 a0001c0005t0008g0065 a0001c0005t0008g0154 a0001c0005t0016g0104 a0001c0010t0059g0163 a0001c0010t0060g0167 a0001c0011t0015g0077 a0001c0028t0027g0152 a0002c0004t0007g0136 a0002c0004t0022g0057 a0002c0004t0022g0114 a0003c0012t0034g0010 a0004c0044t0041g0016 a0005c0022t0033g0153 a0010c0032t0019g0149 a0016c0040t0003g0024 a0018c0025t0019g0025	36	168	0.2143	-26	c.548 others(45): Show c.548+65550_548+65575delCGCAGGCTTCAGTGCCTCTGCTGTCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104684779	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03927.hp2 NA18988.hp2 HG02970.hp2 HG03927.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0002t0001 a0001c0006t0004 a0001c0001t0002 a0001c0002t0001 a0001c0006t0004	a0001c0001t0002g0062 a0001c0002t0001g0064 a0001c0006t0004g0058 a0001c0001t0002g0062 a0001c0002t0001g0064 a0001c0006t0004g0058	3	23	0.1304	-26	c.627 others(45): Show c.627+42854_627+42879delTTTTTTTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105242468	TTATATAT others(19): Show TTATATATTTATATATTTATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp1 HG02965.hp2 others(1): Show HG02647.hp2 HG02922.hp1 HG02965.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0003 a0001c0002t0003 a0001c0003t0003	a0001c0002t0003g0059 a0001c0002t0003g0070 a0001c0003t0003g0054 others(1): Show a0001c0002t0003g0059 a0001c0002t0003g0070 a0001c0003t0003g0054 a0001c0003t0003g0055	4	127	0.0315	-26	c.286 others(45): Show c.2869-3058_2869-3033delTTATATATTTATATATATTTATATAT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORT1_chr1_109304575_109402918	109378699	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01952.hp2 others(17): Show HG00140.hp2 HG01074.hp1 HG01952.hp2 HG02572.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp2 HG02896.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03669.hp2 NA18944.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0002c0006	a0001c0002t0003 a0001c0002t0006 a0001c0003t0008 others(5): Show a0001c0002t0003 a0001c0002t0006 a0001c0003t0008 a0001c0003t0015 a0001c0003t0019 a0001c0004t0013 a0001c0007t0037 a0002c0006t0016	a0001c0002t0003g0205 a0001c0002t0003g0208 a0001c0002t0003g0209 others(17): Show a0001c0002t0003g0205 a0001c0002t0003g0208 a0001c0002t0003g0209 a0001c0002t0003g0210 a0001c0002t0003g0212 a0001c0002t0003g0214 a0001c0002t0003g0215 a0001c0002t0003g0218 a0001c0002t0003g0227 a0001c0002t0003g0235 a0001c0002t0006g0194 a0001c0002t0006g0232 a0001c0003t0008g0007 a0001c0003t0008g0010 a0001c0003t0015g0185 a0001c0003t0015g0186 a0001c0003t0019g0006 a0001c0004t0013g0171 a0001c0007t0037g0222 a0002c0006t0016g0228	20	38	0.5263	-26	c.307 others(43): Show c.307-9136_307-9111delATATATATATATATATATATATATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SOS2_chr14_50112130_50236578	50178664	GTGTGTGC others(19): Show GTGTGTGCATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	377	0.0027	-26	c.969 others(43): Show c.969+1882_969+1907delTATATATATATATATATATGCACACA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	7/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50178666	GTGTGCAT others(19): Show GTGTGCATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01433.hp2 HG01496.hp1 others(6): Show HG01255.hp2 HG01433.hp2 HG01496.hp1 HG01978.hp2 HG02809.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0016 a0001c0001 a0002c0004 a0002c0016	a0001c0001t0001 a0002c0004t0001 a0002c0016t0001 a0001c0001t0001 a0002c0004t0001 a0002c0016t0001	a0001c0001t0001g0239 a0001c0001t0001g0257 a0001c0001t0001g0258 others(6): Show a0001c0001t0001g0239 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0270 a0001c0001t0001g0298 a0002c0004t0001g0364 a0002c0004t0001g0365 a0002c0004t0001g0366 a0002c0016t0001g0377	9	303	0.0297	-26	c.969 others(43): Show c.969+1880_969+1905delTATATATATATATATATATATGCACA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	7/22			chr14	TogoVar
SOSTDC1_chr7_16456481_16470738	16470044	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00438.hp2 others(176): Show HG00140.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01175.hp1 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp2 NA19076.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(26): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0047 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0019 a0001c0001t0005g0015 a0001c0001t0009g0038 a0001c0001t0010g0045 a0001c0004t0001g0040	179	226	0.7920	-26	c.-44 others(37): Show c.-4402_-4377delTATATATATATATATATATATATATA	SOSTDC1	ENSG00000171243.8	transcript	ENST00000307068.5	protein_coding		4307		chr7	TogoVar
SOST_chr17_43748738_43763791	43751389	GAGAGAGA others(19): Show GAGAGAGAGAGTGAGAGAGAGAGAGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01934.hp1 HG01978.hp1 others(6): Show HG01928.hp1 HG01934.hp1 HG01978.hp1 HG02293.hp1 NA18951.hp2 NA19000.hp1 NA19080.hp1 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0035 a0001c0001t0002g0001 a0001c0001t0002g0035	9	420	0.0214	-26	c.39 others(37): Show c.3927_*3952delGTCTCTCTCTCTCTCACTCTCTCTCT	SOST	ENSG00000167941.3	transcript	ENST00000301691.3	protein_coding		2348		chr17	TogoVar
SOWAHB_chr4_76889152_76903144	76900841	AAAAAAAA others(19): Show AAAAAAAAAAACAAAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03516.hp1 others(1): Show HG02895.hp2 HG02897.hp2 HG03516.hp1 NA20129.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0008 a0004c0006t0014 a0004c0006t0008 a0004c0006t0014	a0004c0006t0008g0000 a0004c0006t0014g0000 a0004c0006t0008g0000 a0004c0006t0014g0000	4	436	0.0092	-26	c.-30 others(37): Show c.-3018_-2993delGTTTTTTTTTTTTTTGTTTTTTTTTT	SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding		2698		chr4	TogoVar
SOX2_chr3_181706925_181719436	181715433	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(156): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19004.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(5): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0010g0000 a0001c0001t0016g0000	159	164	0.9695	-26	c.21 others(37): Show c.2120_*2145delTTTTTTTTTTTTTTTTTTTTTTTTTT	SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding		998		chr3	TogoVar
SOX5_chr12_23524504_23954670	23570924	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG03098.hp1 HG01891.hp1 HG02258.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0117 a0001c0001t0119 a0001c0002t0048 a0001c0001t0117 a0001c0001t0119 a0001c0002t0048	a0001c0001t0117g0083 a0001c0001t0119g0020 a0001c0002t0048g0113 a0001c0001t0117g0083 a0001c0001t0119g0020 a0001c0002t0048g0113	3	203	0.0148	-26	c.134 others(45): Show c.1342+4711_1342+4736delATATATATATATATATATATTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570926	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	193	0.0052	-26	c.134 others(45): Show c.1342+4709_1342+4734delATATATATATATATATATATATTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23726117	CCGAGAGA others(19): Show CCGAGAGAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG03195.hp1 others(2): Show HG02109.hp1 HG02257.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0018 a0001c0001t0081 others(1): Show a0001c0001t0007 a0001c0001t0018 a0001c0001t0081 a0001c0001t0086	a0001c0001t0007g0023 a0001c0001t0007g0198 a0001c0001t0018g0022 others(2): Show a0001c0001t0007g0023 a0001c0001t0007g0198 a0001c0001t0018g0022 a0001c0001t0081g0193 a0001c0001t0086g0024	5	210	0.0238	-26	c.810 others(43): Show c.810+8541_810+8566delCTCTCTCTCTCTCTCTCTCTCTCTCG	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23804915	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02970.hp2 HG03130.hp2 others(2): Show HG02486.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0036 a0001c0001t0112 others(2): Show a0001c0001t0003 a0001c0001t0036 a0001c0001t0112 a0001c0001t0121 a0001c0004t0047	a0001c0001t0003g0086 a0001c0001t0036g0117 a0001c0001t0112g0001 others(2): Show a0001c0001t0003g0086 a0001c0001t0036g0117 a0001c0001t0112g0001 a0001c0001t0121g0186 a0001c0004t0047g0190	5	13	0.3846	-26	c.481 others(45): Show c.481+41042_481+41067delTATATATATATATATATATATATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16063496	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp2 HG02818.hp2 others(1): Show HG02622.hp1 HG02630.hp2 HG02818.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009	a0001c0001t0004g0094 a0001c0001t0005g0034 a0001c0001t0009g0038 others(1): Show a0001c0001t0004g0094 a0001c0001t0005g0034 a0001c0001t0009g0038 a0001c0001t0009g0039	4	32	0.1250	-26	c.110 others(45): Show c.1102-7621_1102-7596delTATATATATATATATATATATATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	9/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16231695	AAATAGGT others(19): Show AAATAGGTGCTCTTTAAACCAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02572.hp2 HG02615.hp2 others(5): Show HG01106.hp2 HG02572.hp2 HG02615.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0001t0031 a0001c0002t0003 a0001c0002t0032	a0001c0001t0001g0047 a0001c0001t0003g0003 a0001c0001t0009g0045 others(5): Show a0001c0001t0001g0047 a0001c0001t0003g0003 a0001c0001t0009g0045 a0001c0001t0015g0044 a0001c0001t0015g0046 a0001c0001t0031g0043 a0001c0002t0003g0004 a0001c0002t0032g0008	8	216	0.0370	-26	c.535 others(43): Show c.535+2861_535+2886delGTTTGTTGGTTTAAAGAGCACCTATT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	4/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16291229	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0122 a0001c0001t0018g0122	1	2	0.5000	-26	c.445 others(45): Show c.445+27191_445+27216delTATATATATATATATATATATATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	3/15			chr11	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0096 a0001c0001t0004g0096	1	2	0.5000	-26	c.205 others(43): Show c.2053-618_2053-593delTTTTTTTTTTTTTTTTTTTTTTTTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP9_chr2_174329954_174343500	174330089	TTGCTTAG others(19): Show TTGCTTAGGTCTAAGACCCTTCTGTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	402	0.0025	-26	c.-50 others(37): Show c.-5003_-4978delTGCTTAGGTCTAAGACCCTTCTGTGG	SP9	ENSG00000217236.2	transcript	ENST00000394967.3	protein_coding		4864		chr2	TogoVar
SPACA4_chr19_48601742_48612714	48602702	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	378	0.0026	-26	c.-42 others(37): Show c.-4276_-4251delAAATATATATATATATATATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4039		chr19	TogoVar
SPACA7_chr13_112371355_112439689	112383111	AAAAGAAA others(19): Show AAAAGAAAAGAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00673.hp1 others(29): Show HG00140.hp1 HG00323.hp2 HG00673.hp1 HG00733.hp1 HG01070.hp1 HG01123.hp1 HG01255.hp2 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG02071.hp2 HG02293.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp2 HG03130.hp2 HG03486.hp1 HG03654.hp1 HG03669.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18965.hp1 NA18977.hp1 NA18980.hp1 NA18984.hp2 NA18995.hp1 NA19000.hp2 NA19001.hp1 NA19063.hp2 NA19077.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0001c0001t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0333 a0001c0001t0001g0339 a0001c0001t0001g0340 others(29): Show a0001c0001t0001g0333 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0004t0001g0158 a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0170 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0185 a0002c0002t0001g0190 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0224 a0002c0002t0001g0253	32	259	0.1236	-26	c.94+ others(41): Show c.94+6640_94+6665delAGAAAAGAAAGAAAGAAAGAAAGAAA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACDR_chr7_100451620_100469260	100458195	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	63	0.0159	-26	c.388 others(43): Show c.388-1236_388-1211delACACACACACACACACACACACACAC	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPAG16_chr2_213279464_214415501	213310319	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0019 a0003c0003t0003g0019	1	2	0.5000	-26	c.398 others(41): Show c.398+172_398+197delCACACACACACACACACACACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213468461	CTCTATGT others(19): Show CTCTATGTATTTATATATAGATATATA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02922.hp1 NA19087.hp1 HG02015.hp1 HG02922.hp1 NA19087.hp1	a0007 a0009 a0011 a0007 a0009 a0011	a0007c0007 a0009c0008 a0011c0009 a0007c0007 a0009c0008 a0011c0009	a0007c0007t0001 a0009c0008t0001 a0011c0009t0001 a0007c0007t0001 a0009c0008t0001 a0011c0009t0001	a0007c0007t0001g0083 a0009c0008t0001g0084 a0011c0009t0001g0085 a0007c0007t0001g0083 a0009c0008t0001g0084 a0011c0009t0001g0085	3	85	0.0353	-26	c.943 others(45): Show c.943-21500_943-21475delCTATGTATTTATATATAGATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213468517	CTATGTAT others(19): Show CTATGTATTTATATATAGATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02922.hp1 NA19087.hp1 HG02015.hp1 HG02922.hp1 NA19087.hp1	a0007 a0009 a0011 a0007 a0009 a0011	a0007c0007 a0009c0008 a0011c0009 a0007c0007 a0009c0008 a0011c0009	a0007c0007t0001 a0009c0008t0001 a0011c0009t0001 a0007c0007t0001 a0009c0008t0001 a0011c0009t0001	a0007c0007t0001g0083 a0009c0008t0001g0084 a0011c0009t0001g0085 a0007c0007t0001g0083 a0009c0008t0001g0084 a0011c0009t0001g0085	3	86	0.0349	-26	c.943 others(45): Show c.943-21427_943-21402delTATATATATATGTATTTATATATAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213468536	TATATATA others(19): Show TATATATATATGTATTTATATATAGAG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03225.hp1 HG03579.hp2 others(1): Show HG02886.hp2 HG03225.hp1 HG03579.hp2 NA18522.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0002 a0002c0002t0002 a0005c0005t0001 a0001c0001t0002 a0002c0002t0002 a0005c0005t0001	a0001c0001t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 others(1): Show a0001c0001t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0005c0005t0001g0081	4	86	0.0465	-26	c.943 others(45): Show c.943-21416_943-21391delGTATTTATATATAGAGATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213593746	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA19087.hp1 HG02015.hp1 NA19087.hp1	a0007 a0011 a0007 a0011	a0007c0007 a0011c0009 a0007c0007 a0011c0009	a0007c0007t0001 a0011c0009t0001 a0007c0007t0001 a0011c0009t0001	a0007c0007t0001g0083 a0011c0009t0001g0085 a0007c0007t0001g0083 a0011c0009t0001g0085	2	7	0.2857	-26	c.107 others(49): Show c.1070+103677_1070+103702delTTTTTTTTTTTTTTTTTTTTTT TTTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213871865	CACACACA others(19): Show CACACACACACACACAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG03239.hp2 HG02109.hp1 HG02647.hp1 HG03239.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0048 a0001c0001t0001g0066 a0003c0003t0003g0019 a0001c0001t0001g0048 a0001c0001t0001g0066 a0003c0003t0003g0019	3	74	0.0405	-26	c.121 others(45): Show c.1214+9239_1214+9264delCACACACACACACAGAGAGAGAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213932147	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02293.hp1 HG02015.hp1 HG02293.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0007 a0002c0002 a0007c0007	a0002c0002t0001 a0007c0007t0001 a0002c0002t0001 a0007c0007t0001	a0002c0002t0001g0001 a0007c0007t0001g0083 a0002c0002t0001g0001 a0007c0007t0001g0083	2	10	0.2000	-26	c.140 others(45): Show c.1400+2029_1400+2054delATATATATATATATATATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214126033	TCCTTCCT others(19): Show TCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp2 HG03130.hp2 others(7): Show HG02895.hp1 HG02895.hp2 HG03130.hp2 HG06807.hp1 NA18968.hp2 NA18977.hp2 NA18992.hp1 NA19000.hp2 NA19030.hp2 NA19087.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0008c0010	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0008c0010t0001	a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0061 others(7): Show a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0079 a0002c0002t0001g0010 a0003c0003t0001g0045 a0003c0003t0001g0047 a0008c0010t0001g0002	10	77	0.1299	-26	c.159 others(47): Show c.1593+17773_1593+17798delCCTTCCTTCCTTCCTTCCTTCCTT CC	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	214126035	CTTCCTTC others(19): Show CTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03490.hp2 HG01516.hp1 HG03490.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0040 a0003c0003t0001g0059 a0003c0003t0001g0040 a0003c0003t0001g0059	2	86	0.0233	-26	c.159 others(47): Show c.1593+17777_1593+17802delCCTTCCTTCCTTCCTTCCTTCCTT TT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214261107	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	46	0.0217	-26	c.172 others(49): Show c.1720+111862_1720+111887delAAAAAAAAAAAAAAAAAAAAAA AAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100214988	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0077 a0001c0003t0001g0077	1	66	0.0152	-26	c.153 others(45): Show c.1535+1107_1535+1132delATATATATATATATATATATATATAT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPATA31C1_chr9_87912962_87928657	87915016	GGAGGTCT others(19): Show GGAGGTCTCTGTCCGAGGCCAGGCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	-26	c.-29 others(37): Show c.-2974_-2949delGAGGTCTCTGTCCGAGGCCAGGCCCT	SPATA31C1	ENSG00000230246.9	transcript	ENST00000706933.1	protein_coding		2945		chr9	TogoVar
SPATA31D3_chr9_81938500_81955093	81945273	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02451.hp2 others(8): Show HG01884.hp2 HG01891.hp1 HG02451.hp2 HG02559.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03486.hp2 HG03579.hp2 HG03688.hp2 NA18906.hp1	a0001 a0004 a0011 others(4): Show a0001 a0004 a0011 a0012 a0013 a0027 a0028	a0001c0001 a0004c0031 a0011c0015 others(4): Show a0001c0001 a0004c0031 a0011c0015 a0012c0016 a0013c0012 a0027c0046 a0028c0026	a0001c0001t0002 a0004c0031t0002 a0011c0015t0010 others(4): Show a0001c0001t0002 a0004c0031t0002 a0011c0015t0010 a0012c0016t0011 a0013c0012t0002 a0027c0046t0010 a0028c0026t0002	a0001c0001t0002g0076 a0004c0031t0002g0058 a0011c0015t0010g0013 others(4): Show a0001c0001t0002g0076 a0004c0031t0002g0058 a0011c0015t0010g0013 a0012c0016t0011g0013 a0013c0012t0002g0031 a0027c0046t0010g0013 a0028c0026t0002g0013	11	74	0.1486	-26	c.293 others(39): Show c.293+60_293+85delTTTTTTTTTTTTTTTTTTTTTTTTTT	SPATA31D3	ENSG00000186788.14	transcript	ENST00000445385.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA5_chr4_122918078_123324433	123007542	GTGTATGT others(19): Show GTGTATGTATGTGTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02738.hp1 NA18961.hp1 others(4): Show HG01346.hp2 HG02738.hp1 NA18961.hp1 NA18971.hp1 NA18990.hp2 NA19010.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0050 a0001c0001t0002g0020 a0001c0001t0002g0030 others(4): Show a0001c0001t0001g0050 a0001c0001t0002g0020 a0001c0001t0002g0030 a0001c0001t0002g0038 a0001c0001t0003g0066 a0001c0001t0005g0037 a0001c0001t0005g0070	7	260	0.0269	-26	c.187 others(47): Show c.1870-20640_1870-20615delATGTATGTGTGTGTGTGTGTATAT GT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123007550	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG03130.hp1 HG02257.hp2 HG02559.hp2 HG03130.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0012 a0005c0008t0015 a0005c0008t0029 a0001c0001t0012 a0005c0008t0015 a0005c0008t0029	a0001c0001t0012g0244 a0005c0008t0015g0243 a0005c0008t0029g0242 a0001c0001t0012g0244 a0005c0008t0015g0243 a0005c0008t0029g0242	3	232	0.0129	-26	c.187 others(47): Show c.1870-20620_1870-20595delATATGTGTGTGTGTGTGTGTGTGT GT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123007568	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00639.hp1 others(71): Show HG00408.hp2 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG01978.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG02622.hp1 HG02698.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03209.hp2 HG03471.hp2 HG03490.hp1 HG03704.hp2 HG03831.hp2 HG04115.hp2 HG04199.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18944.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18957.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18982.hp1 NA18983.hp1 NA18990.hp1 NA18992.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA20129.hp1 NA20752.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0001c0004 a0003c0003 others(2): Show a0001c0001 a0001c0004 a0003c0003 a0004c0006 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0057 a0001c0001t0061 a0001c0004t0011 a0001c0004t0013 a0001c0004t0068 a0003c0003t0005 a0003c0003t0041 a0004c0006t0055 a0006c0007t0063	a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0185 others(71): Show a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0002g0072 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0003g0182 a0001c0001t0003g0221 a0001c0001t0003g0232 a0001c0001t0003g0249 a0001c0001t0004g0196 a0001c0001t0004g0228 a0001c0001t0004g0239 a0001c0001t0006g0240 a0001c0001t0007g0177 a0001c0001t0007g0198 a0001c0001t0007g0259 a0001c0001t0011g0178 a0001c0001t0017g0184 a0001c0001t0019g0210 a0001c0001t0020g0179 a0001c0001t0020g0180 a0001c0001t0043g0236 a0001c0001t0044g0215 a0001c0001t0045g0183 a0001c0001t0046g0225 a0001c0001t0049g0190 a0001c0001t0057g0226 a0001c0001t0061g0237 a0001c0004t0011g0149 a0001c0004t0013g0144 a0001c0004t0068g0143 a0003c0003t0005g0005 a0003c0003t0041g0006 a0004c0006t0055g0014 a0006c0007t0063g0256	74	226	0.3274	-26	c.187 others(47): Show c.1870-20602_1870-20577delGTGTGTGTGTGTGTGTGTGTGTGT GT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123007584	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG03041.hp2 HG03209.hp1 HG01928.hp1 HG03041.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0033 a0001c0001t0001 a0001c0001t0002 a0001c0001t0033	a0001c0001t0001g0231 a0001c0001t0002g0255 a0001c0001t0033g0262 a0001c0001t0001g0231 a0001c0001t0002g0255 a0001c0001t0033g0262	3	260	0.0115	-26	c.187 others(47): Show c.1870-20600_1870-20575delGTGTGTGTGTGTGTGTGTGTGTGT AT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123323070	CACATATA others(19): Show CACATATATATACACACATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG02965.hp1 HG01975.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0034 a0001c0004t0002 a0001c0001t0034 a0001c0004t0002	a0001c0001t0034g0261 a0001c0004t0002g0142 a0001c0001t0034g0261 a0001c0004t0002g0142	2	221	0.0090	-26	c.90 others(37): Show c.9007_*9032delACATATATATACACACATATATATAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding		3638		chr4	TogoVar
SPATA5_chr4_122918078_123324433	123323160	CACACATA others(19): Show CACACATATATATATACATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(115): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02559.hp1 HG02602.hp2 HG02630.hp2 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18957.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA19000.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19056.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0001c0009 others(3): Show a0001c0001 a0001c0004 a0001c0009 a0002c0002 a0003c0003 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(31): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0050 a0001c0001t0073 a0001c0004t0011 a0001c0009t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0010 a0002c0002t0017 a0002c0002t0048 a0003c0003t0001 a0003c0003t0041 a0004c0006t0053 a0004c0006t0055	a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0050 others(115): Show a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0003g0066 a0001c0001t0003g0101 a0001c0001t0003g0221 a0001c0001t0003g0232 a0001c0001t0003g0249 a0001c0001t0004g0102 a0001c0001t0004g0117 a0001c0001t0004g0196 a0001c0001t0004g0228 a0001c0001t0004g0239 a0001c0001t0006g0003 a0001c0001t0006g0128 a0001c0001t0006g0240 a0001c0001t0007g0177 a0001c0001t0007g0198 a0001c0001t0007g0259 a0001c0001t0011g0178 a0001c0001t0017g0184 a0001c0001t0018g0001 a0001c0001t0018g0002 a0001c0001t0019g0051 a0001c0001t0019g0210 a0001c0001t0020g0179 a0001c0001t0020g0180 a0001c0001t0035g0132 a0001c0001t0036g0153 a0001c0001t0037g0154 a0001c0001t0038g0141 a0001c0001t0039g0248 a0001c0001t0043g0236 a0001c0001t0044g0215 a0001c0001t0045g0183 a0001c0001t0046g0225 a0001c0001t0047g0029 a0001c0001t0050g0174 a0001c0001t0073g0076 a0001c0004t0011g0148 a0001c0009t0001g0134 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0003g0152 a0002c0002t0003g0161 a0002c0002t0003g0167 a0002c0002t0003g0168 a0002c0002t0007g0166 a0002c0002t0010g0150 a0002c0002t0010g0151 a0002c0002t0010g0169 a0002c0002t0017g0156 a0002c0002t0048g0157 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0041g0006 a0004c0006t0053g0004 a0004c0006t0055g0014	118	260	0.4538	-26	c.90 others(37): Show c.9097_*9122delACACATATATATATACATATATATAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding		3728		chr4	TogoVar
SPATC1L_chr21_46156160_46189459	46156358	GATACACA others(19): Show GATACACACGAGACGGGCATGTGCGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	250	0.0040	-26	c.49 others(37): Show c.4995_*5020delATCGCACATGCCCGTCTCGTGTGTAT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		4801		chr21	TogoVar
SPC25_chr2_168865891_168895430	168889024	CATATATA others(19): Show CATATATATACATATATATATACACAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG01081.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	2	360	0.0056	-26	c.199 others(41): Show c.199+176_199+201delATGTGTATATATATATGTATATATAT	SPC25	ENSG00000152253.9	transcript	ENST00000282074.7	protein_coding	3/6			chr2	TogoVar
SPC25_chr2_168865891_168895430	168889034	CATATATA others(19): Show CATATATATATACACATATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01361.hp2 HG02886.hp1 others(1): Show HG00733.hp1 HG01361.hp2 HG02886.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0012	a0001c0001t0001g0179 a0001c0001t0002g0114 a0001c0001t0008g0097 others(1): Show a0001c0001t0001g0179 a0001c0001t0002g0114 a0001c0001t0008g0097 a0001c0001t0012g0111	4	355	0.0113	-26	c.199 others(41): Show c.199+166_199+191delATGTATATATATGTGTATATATATAT	SPC25	ENSG00000152253.9	transcript	ENST00000282074.7	protein_coding	3/6			chr2	TogoVar
SPC25_chr2_168865891_168895430	168889058	CATATATA others(19): Show CATATATATATACACATATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(118): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00621.hp2 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02293.hp1 HG02559.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02738.hp2 HG02895.hp2 HG02897.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18986.hp1 NA18987.hp2 NA18992.hp1 NA18994.hp1 NA18999.hp2 NA19002.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19063.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0139 others(52): Show a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0139 a0001c0001t0001g0152 a0001c0001t0001g0170 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0005g0051 a0001c0001t0005g0165 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0008g0155 a0001c0001t0009g0174 a0001c0001t0009g0175 a0001c0001t0011g0164 a0001c0001t0013g0180	121	335	0.3612	-26	c.199 others(41): Show c.199+142_199+167delATGTATATATATGTGTATATATATAT	SPC25	ENSG00000152253.9	transcript	ENST00000282074.7	protein_coding	3/6			chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819837	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	335	0.0030	-26	c.294 others(41): Show c.294+733_294+758delAAAAAAAAAAAATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819839	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03453.hp1 HG02280.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0002 a0001c0001t0001g0012	2	329	0.0061	-26	c.294 others(41): Show c.294+735_294+760delAAAAAAAAAATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar

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