Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
GLB1L3_chr11_134271379_134324564	134308321	CATCACCA others(29): Show CATCACCATCACCATCACCATCATCACCATCACCACT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02717.hp2 HG01884.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0368 a0001c0001t0002g0370 a0001c0001t0002g0368 a0001c0001t0002g0370	2	414	0.0048	-36	c.961 others(53): Show c.961+1115_961+1150delTCACCATCACCATCACCATCATCACCAT CACCACTA		GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
GLI3_chr7_41955949_42242209	41968727	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0130 a0001c0001t0011g0130	1	155	0.0065	-36	c.210 others(53): Show c.2104-840_2104-805delCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC		GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	13/14						chr7	TogoVar
GLI4_chr8_143262445_143281931	143273851	GGGTGGCA others(29): Show GGGTGGCACAGCACTGAGGGGGCAGGTGAGGCACCAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(273): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0003 a0002c0001 others(5): Show a0001c0002 a0001c0003 a0002c0001 a0002c0006 a0002c0009 a0002c0011 a0002c0013 a0006c0014	a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 others(9): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0002c0001t0001 a0002c0001t0003 a0002c0001t0006 a0002c0001t0007 a0002c0006t0001 a0002c0009t0001 a0002c0011t0001 a0002c0013t0001 a0006c0014t0001	a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0007 others(87): Show a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0031 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0056 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0076 a0001c0003t0001g0028 a0001c0003t0001g0030 a0001c0003t0001g0078 a0001c0003t0001g0105 a0001c0003t0004g0015 a0001c0003t0004g0026 a0001c0003t0004g0038 a0001c0003t0004g0115 a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0014 a0002c0001t0001g0017 a0002c0001t0001g0019 a0002c0001t0001g0021 a0002c0001t0001g0022 a0002c0001t0001g0023 a0002c0001t0001g0032 a0002c0001t0001g0033 a0002c0001t0001g0034 a0002c0001t0001g0035 a0002c0001t0001g0036 a0002c0001t0001g0081 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0089 a0002c0001t0001g0092 a0002c0001t0001g0093 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0098 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0103 a0002c0001t0001g0104 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0110 a0002c0001t0001g0112 a0002c0001t0001g0114 a0002c0001t0003g0002 a0002c0001t0003g0017 a0002c0001t0003g0090 a0002c0001t0003g0091 a0002c0001t0003g0094 a0002c0001t0006g0011 a0002c0001t0007g0083 a0002c0006t0001g0010 a0002c0006t0001g0111 a0002c0009t0001g0001 a0002c0009t0001g0002 a0002c0011t0001g0082 a0002c0013t0001g0034 a0006c0014t0001g0031	276	392	0.7041	-36	c.125 others(51): Show c.125-834_125-799delGGGCAGGTGAGGCACCAAGGTGGCACAGCA CTGAGG		GLI4	ENSG00000250571.7	transcript	ENST00000340042.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr8	TogoVar
GLIS1_chr1_53501239_53744164	53709331	CATATATA others(29): Show CATATATATACATATATACATATATATACATATACAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG03139.hp2 others(2): Show HG01884.hp1 HG02622.hp2 HG03139.hp2 HG03225.hp2 HG03516.hp1	a0004 a0010 a0004 a0010	a0004c0004 a0010c0016 a0010c0017 a0004c0004 a0010c0016 a0010c0017	a0004c0004t0007 a0010c0016t0003 a0010c0016t0014 others(1): Show a0004c0004t0007 a0010c0016t0003 a0010c0016t0014 a0010c0017t0006	a0004c0004t0007g0012 a0010c0016t0003g0049 a0010c0016t0014g0048 others(2): Show a0004c0004t0007g0012 a0010c0016t0003g0049 a0010c0016t0014g0048 a0010c0017t0006g0047 a0010c0017t0006g0050	5	218	0.0229	-36	c.259 others(55): Show c.259+28439_259+28474delATGTATATGTATATATATGTATATAT GTATATATAT		GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10						chr1	TogoVar
GLIS3_chr9_3819127_4305068	4276455	AGGGGAGG others(29): Show AGGGGAGGGAAGGGGACGGGAGGGGAGGGAAGGGGAC	A A	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0092 a0002c0002t0011g0092	1	188	0.0053	-36	c.388 others(53): Show c.388+9547_388+9582delGTCCCCTTCCCTCCCCTCCCGTCCCCTT CCCTCCCC		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	2/10						chr9	TogoVar
GLT1D1_chr12_128848478_128989968	128879465	TTGGGGGG others(29): Show TTGGGGGGGTGGGCAGAGTCTCACTCTGTGGCCCAGG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02451.hp1 HG02622.hp2 others(5): Show HG00642.hp2 HG02451.hp1 HG02622.hp2 HG02896.hp1 HG03209.hp1 HG03209.hp2 NA19030.hp1 NA19240.hp2	a0003 a0005 a0010 a0003 a0005 a0010	a0003c0005 a0005c0009 a0010c0011 a0003c0005 a0005c0009 a0010c0011	a0003c0005t0001 a0003c0005t0002 a0003c0005t0004 others(3): Show a0003c0005t0001 a0003c0005t0002 a0003c0005t0004 a0005c0009t0007 a0005c0009t0008 a0010c0011t0004	a0003c0005t0001g0317 a0003c0005t0002g0318 a0003c0005t0004g0043 others(5): Show a0003c0005t0001g0317 a0003c0005t0002g0318 a0003c0005t0004g0043 a0003c0005t0004g0145 a0003c0005t0004g0316 a0005c0009t0007g0079 a0005c0009t0008g0023 a0010c0011t0004g0139	8	317	0.0252	-36	c.217 others(53): Show c.217+3404_217+3439delTGGGGGGGTGGGCAGAGTCTCACTCTGT GGCCCAGG		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11						chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128971614	CCCCCTCC others(29): Show CCCCCTCCCTCCTCCCTTCCCCCCTCCCTCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	318	0.0031	-36	c.880 others(55): Show c.880-11310_880-11275delTCCCTCCTCCCTTCCCCCCTCCCTCC TCCCTTCCCC		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128971775	TTCCTCCC others(29): Show TTCCTCCCTCCCTCCTCCCTTCCTCCCTTCTTTGCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00738.hp2 others(26): Show HG00408.hp2 HG00438.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02074.hp1 HG03017.hp1 HG03239.hp1 HG03834.hp2 HG04199.hp1 NA18747.hp2 NA18947.hp1 NA18965.hp1 NA18970.hp1 NA18989.hp2 NA19000.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA20129.hp2 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0006c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0006t0001 a0006c0017t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0069 others(26): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0069 a0001c0001t0001g0118 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0198 a0001c0001t0001g0218 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0281 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0002g0277 a0001c0001t0002g0283 a0001c0002t0001g0034 a0001c0002t0001g0106 a0001c0002t0001g0114 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0136 a0001c0002t0001g0304 a0001c0002t0002g0206 a0001c0004t0001g0184 a0001c0004t0001g0186 a0001c0006t0001g0148 a0006c0017t0001g0196	29	317	0.0915	-36	c.880 others(55): Show c.880-11153_880-11118delTCCTCCCTCCCTCCTCCCTTCCTCCC TTCTTTGCTC		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11						chr12	TogoVar
GLT6D1_chr9_135618648_135644540	135619849	TTCTCCCC others(29): Show TTCTCCCCCTTCTCCCCCTTCTCCCCCTTCTCCCCAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0010 a0010	a0010c0021 a0010c0021	a0010c0021t0003 a0010c0021t0003	a0010c0021t0003g0224 a0010c0021t0003g0224	1	434	0.0023	-36	c.42 others(47): Show c.4212_*4247delTTGGGGAGAAGGGGGAGAAGGGGGAGAAGGGGGA GA		GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding					3798		chr9	TogoVar
GLT6D1_chr9_135618648_135644540	135620160	ACTCCCCC others(29): Show ACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00438.hp2 others(44): Show HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp2 HG01106.hp1 HG01192.hp1 HG01192.hp2 HG01358.hp1 HG01361.hp2 HG02004.hp1 HG02257.hp2 HG02559.hp1 HG02723.hp2 HG03130.hp2 HG03490.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp2 HG06807.hp2 NA18939.hp1 NA18947.hp1 NA18952.hp2 NA18955.hp1 NA18974.hp1 NA18977.hp1 NA18978.hp2 NA18989.hp2 NA18998.hp2 NA19001.hp1 NA19057.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0008 a0002c0003 others(5): Show a0001c0001 a0001c0008 a0002c0003 a0002c0004 a0002c0007 a0002c0014 a0003c0002 a0004c0009	a0001c0001t0001 a0001c0001t0005 a0001c0008t0003 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0008t0003 a0002c0003t0001 a0002c0004t0003 a0002c0004t0007 a0002c0007t0003 a0002c0014t0003 a0003c0002t0003 a0004c0009t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0005g0020 a0001c0008t0003g0112 a0001c0008t0003g0113 a0002c0003t0001g0032 a0002c0004t0003g0010 a0002c0004t0003g0017 a0002c0004t0003g0021 a0002c0004t0003g0064 a0002c0004t0003g0081 a0002c0004t0003g0093 a0002c0004t0003g0101 a0002c0004t0003g0200 a0002c0004t0003g0219 a0002c0004t0003g0222 a0002c0004t0003g0228 a0002c0004t0007g0103 a0002c0007t0003g0018 a0002c0007t0003g0047 a0002c0007t0003g0248 a0002c0014t0003g0201 a0003c0002t0003g0155 a0004c0009t0003g0044 a0004c0009t0003g0111 a0004c0009t0003g0151 a0004c0009t0003g0186	47	424	0.1108	-36	c.39 others(47): Show c.3901_*3936delACGGGGGAGACGGGGGAGTAGGGGGAGAAGGGGG AG		GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding					3487		chr9	TogoVar
GLT6D1_chr9_135618648_135644540	135620195	GTCTCCCC others(29): Show GTCTCCCCCTTCTCCCCCTTTTCCCCCTACTCCCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0105 a0002c0004t0003g0105	1	430	0.0023	-36	c.38 others(47): Show c.3866_*3901delAGGGGGAGTAGGGGGAAAAGGGGGAGAAGGGGGA GA		GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding					3452		chr9	TogoVar
GLT8D2_chr12_103983987_104055187	104021920	AGAAGAAG others(29): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18955.hp1 NA18963.hp1 HG02735.hp2 NA18955.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0041 a0001c0003t0001g0287 a0001c0003t0001g0303 a0001c0001t0001g0041 a0001c0003t0001g0287 a0001c0003t0001g0303	3	395	0.0076	-36	c.-16 others(53): Show c.-163-465_-163-430delCTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021929	AGAAGAAG others(29): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02630.hp2 HG01099.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0170 a0001c0003t0001g0294 a0001c0001t0003g0170 a0001c0003t0001g0294	2	385	0.0052	-36	c.-16 others(53): Show c.-163-474_-163-439delCTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021935	AGAAGAAG others(29): Show AGAAGAAGAAGAAGAAGAAGAGGAAGAAGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	372	0.0027	-36	c.-16 others(53): Show c.-163-480_-163-445delCTCTTCCTCTTCTTCCTCTTCTTCTTCT TCTTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021971	GGAAGAGG others(29): Show GGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0244	1	379	0.0026	-36	c.-16 others(53): Show c.-163-516_-163-481delTTCTTCTTCTTCTTCTTCTTCTTCCTCT TCCTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021977	GGAAGAGG others(29): Show GGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03927.hp1 HG02015.hp2 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0008 a0002c0002t0001 a0002c0002t0008	a0002c0002t0001g0238 a0002c0002t0008g0406 a0002c0002t0001g0238 a0002c0002t0008g0406	2	381	0.0052	-36	c.-16 others(53): Show c.-163-522_-163-487delTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCCTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021987	GAAGAAGA others(29): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0228 a0002c0002t0001g0228	1	414	0.0024	-36	c.-16 others(53): Show c.-163-532_-163-497delTTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTT		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLYATL3_chr6_49494923_49533078	49529961	GATATAGA others(29): Show GATATAGATATAGATATAGATATAGATATAGATATAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03688.hp2 NA18953.hp2 HG01884.hp1 HG03688.hp2 NA18953.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0005 a0003c0001 a0005c0006 a0002c0005 a0003c0001 a0005c0006	a0002c0005t0010 a0003c0001t0002 a0005c0006t0001 a0002c0005t0010 a0003c0001t0002 a0005c0006t0001	a0002c0005t0010g0032 a0003c0001t0002g0132 a0005c0006t0001g0125 a0002c0005t0010g0032 a0003c0001t0002g0132 a0005c0006t0001g0125	3	378	0.0079	-36	c.30 others(47): Show c.3048_*3083delATATAGATATAGATATAGATATAGATATAGATAT AA		GLYATL3	ENSG00000203972.10	transcript	ENST00000371197.9	protein_coding					1884		chr6	TogoVar
GMEB2_chr20_63582605_63632101	63601842	GGCCTGTG others(29): Show GGCCTGTGGCTTCCGTGGGGCCTGTGGCTTCCGTGCT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0036 a0001c0007t0007g0036	1	328	0.0030	-36	c.357 others(53): Show c.357+1087_357+1122delAGCACGGAAGCCACAGGCCCCACGGAAG CCACAGGC		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	4/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63607268	CCCACATC others(29): Show CCCACATCCATTTCTAGAAACATGCCCCTCTGACCCA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0086 a0001c0004t0004g0086	1	328	0.0030	-36	c.132 others(53): Show c.132-2464_132-2429delTGGGTCAGAGGGGCATGTTTCTAGAAAT GGATGTGG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GNA14_chr9_77418079_77653322	77641095	GGGGGGGA others(29): Show GGGGGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01884.hp1 HG02132.hp2 others(3): Show HG00642.hp2 HG01884.hp1 HG02132.hp2 HG02818.hp2 HG02922.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0018 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0222 a0001c0001t0018g0227 a0001c0002t0001g0169 others(3): Show a0001c0001t0002g0222 a0001c0001t0018g0227 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0002g0223 a0001c0002t0002g0229	6	184	0.0326	-36	c.124 others(53): Show c.124+6539_124+6574delTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCCCCC		GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6						chr9	TogoVar
GNA14_chr9_77418079_77653322	77641099	GGGAAGGA others(29): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0050 a0001c0001t0012g0050	1	178	0.0056	-36	c.124 others(53): Show c.124+6535_124+6570delTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCC		GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6						chr9	TogoVar
GNAI1_chr7_80129831_80231181	80187186	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTCTTTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0285 a0001c0001t0076g0285	1	157	0.0064	-36	c.119 others(53): Show c.119-1746_119-1711delGTCTTTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT		GNAI1	ENSG00000127955.17	transcript	ENST00000649796.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
GNAO1_chr16_56186489_56362444	56300029	GTGTGTGT others(29): Show GTGTGTGTGCGCGCGCGCGCGCGCACGCACATGTGCT	G G	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0081 a0001c0001t0019g0081	1	296	0.0034	-36	c.303 others(55): Show c.303+23962_303+23997delTGTGCGCGCGCGCGCGCGCACGCACA TGTGCTTGTG		GNAO1	ENSG00000087258.16	transcript	ENST00000262493.12	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
GNB1_chr1_1780286_1896087	1890760	CCAGGGCG others(29): Show CCAGGGCGGGCGGGTGGACGAACAGGACCCGGGTCCG	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	334	0.0030	-36	c.-96 others(49): Show c.-96+24_-96+59delCGGACCCGGGTCCTGTTCGTCCACCCGCCCGC CCTG		GNB1	ENSG00000078369.19	transcript	ENST00000378609.9	protein_coding	1/11						chr1	TogoVar
GNG12_chr1_67696475_67838467	67709964	ATATATAT others(29): Show ATATATATAGTTATATATATATAGTTATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02572.hp2 HG02970.hp2 HG02083.hp2 HG02572.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0008 a0001c0001t0001 a0001c0001t0002 a0001c0002t0008	a0001c0001t0001g0077 a0001c0001t0002g0102 a0001c0002t0008g0171 a0001c0001t0001g0077 a0001c0001t0002g0102 a0001c0002t0008g0171	3	271	0.0111	-36	c.-26 others(53): Show c.-26-2288_-26-2253delACTATATATATAACTATATATATATAAC TATATATA		GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3						chr1	TogoVar
GNG7_chr19_2506219_2707694	2553613	CTACATAC others(29): Show CTACATACATGCACACGTTACATGTAATATGTTATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00735.hp2 others(43): Show HG00323.hp1 HG00642.hp1 HG00735.hp2 HG01081.hp2 HG01168.hp2 HG01243.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG02071.hp1 HG02074.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp2 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02818.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03834.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18952.hp2 NA18963.hp1 NA19000.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19082.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0030 a0001c0001t0036 a0001c0001t0058 a0001c0001t0060 a0001c0001t0062 a0001c0001t0064 a0001c0001t0065 a0001c0001t0070 a0001c0001t0076 a0001c0001t0078 a0001c0001t0079 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0092 a0001c0001t0093	a0001c0001t0001g0082 a0001c0001t0001g0099 a0001c0001t0001g0122 others(43): Show a0001c0001t0001g0082 a0001c0001t0001g0099 a0001c0001t0001g0122 a0001c0001t0001g0188 a0001c0001t0002g0080 a0001c0001t0002g0195 a0001c0001t0003g0126 a0001c0001t0003g0150 a0001c0001t0003g0191 a0001c0001t0004g0071 a0001c0001t0004g0201 a0001c0001t0005g0032 a0001c0001t0005g0152 a0001c0001t0006g0132 a0001c0001t0009g0115 a0001c0001t0011g0119 a0001c0001t0012g0048 a0001c0001t0013g0041 a0001c0001t0014g0197 a0001c0001t0016g0091 a0001c0001t0017g0025 a0001c0001t0017g0042 a0001c0001t0019g0003 a0001c0001t0020g0135 a0001c0001t0022g0031 a0001c0001t0022g0077 a0001c0001t0023g0006 a0001c0001t0023g0133 a0001c0001t0025g0185 a0001c0001t0030g0039 a0001c0001t0036g0101 a0001c0001t0058g0040 a0001c0001t0060g0023 a0001c0001t0062g0171 a0001c0001t0064g0177 a0001c0001t0065g0021 a0001c0001t0070g0035 a0001c0001t0076g0055 a0001c0001t0078g0046 a0001c0001t0079g0180 a0001c0001t0087g0007 a0001c0001t0088g0181 a0001c0001t0089g0049 a0001c0001t0090g0043 a0001c0001t0092g0125 a0001c0001t0093g0030	46	204	0.2255	-36	c.-38 others(53): Show c.-38+1500_-38+1535delATATAACATATTACATGTAACGTGTGCA TGTATGTA		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	3/4						chr19	TogoVar
GNG7_chr19_2506219_2707694	2583219	GCAAATCT others(29): Show GCAAATCTCCCTCTGGAAAACTGTCCTAAGGATATTT	G G	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0115 a0001c0001t0009g0115	1	204	0.0049	-36	c.-77 others(55): Show c.-77-28067_-77-28032delAAATATCCTTAGGACAGTTTTCCAGA GGGAGATTTG		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4						chr19	TogoVar
GNG7_chr19_2506219_2707694	2661258	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03130.hp2 HG02965.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0052 a0001c0001t0051 a0001c0001t0052	a0001c0001t0051g0011 a0001c0001t0052g0020 a0001c0001t0051g0011 a0001c0001t0052g0020	2	199	0.0101	-36	c.-13 others(57): Show c.-134-15014_-134-14979delCTTTCTTTCTTTCTTTCTTTCTTT TCTTTCTTTCTT		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4						chr19	TogoVar
GNRHR_chr4_67732118_67759388	67755166	AATATGAA others(29): Show AATATGAATATGTTCTTTTATAGGTTATCTGATCATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	386	0.0026	-36	c.-86 others(45): Show c.-867_-832delAATGATCAGATAACCTATAAAAGAACATATTCATAT		GNRHR	ENSG00000109163.7	transcript	ENST00000226413.5	protein_coding					779		chr4	TogoVar
GOLGA3_chr12_132763914_132833869	132784727	CTCACACC others(29): Show CTCACACCCCACACGCACATGCTCACACCCCACGTGT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG03209.hp2 others(2): Show HG02486.hp2 HG02615.hp1 HG03209.hp2 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0043 a0001c0003t0044 others(1): Show a0001c0003t0018 a0001c0003t0043 a0001c0003t0044 a0001c0003t0081	a0001c0003t0018g0076 a0001c0003t0018g0156 a0001c0003t0043g0044 others(2): Show a0001c0003t0018g0076 a0001c0003t0018g0156 a0001c0003t0043g0044 a0001c0003t0044g0045 a0001c0003t0081g0308	5	306	0.0163	-36	c.312 others(53): Show c.3124-456_3124-421delACACGTGGGGTGTGAGCATGTGCGTGTG GGGTGTGA		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	15/23						chr12	TogoVar
GOLGA4_chr3_37238271_37371879	37257904	TATATATA others(29): Show TATATATATATGTATGTATATATGTATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	251	0.0040	-36	c.162 others(53): Show c.162+6429_162+6464delATGTATGTATATATGTATATATACATAC ATATATAT		GOLGA4	ENSG00000144674.19	transcript	ENST00000361924.7	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr3	TogoVar
GOLGA4_chr3_37238271_37371879	37257940	CATATATA others(29): Show CATATATATGTATGTATATATGTATATATACATACAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03490.hp1 HG03492.hp2 others(2): Show HG01069.hp2 HG03490.hp1 HG03492.hp2 NA18963.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0120 a0001c0001t0001g0144 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0120 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0177	5	246	0.0203	-36	c.162 others(53): Show c.162+6558_162+6593delCATACATATATATATGTATGTATATATG TATATATA		GOLGA4	ENSG00000144674.19	transcript	ENST00000361924.7	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr3	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344643	CCCAGCTC others(29): Show CCCAGCTCCAGCATCCTCTCCAGCTCCCGCAGCCTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03471.hp1 HG03471.hp1	a0027 a0027	a0027c0033 a0027c0033	a0027c0033t0038 a0027c0033t0038	a0027c0033t0038g0053 a0027c0033t0038g0053	1	294	0.0034	-36	c.118 others(45): Show c.1181_1216delAGAGGCTGCGGGAGCTGGAGAGGATGCTGGAGCTGG	p.Glu others(13): Show p.Glu394_Leu405del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1316/4452	1181/1569	394/522			chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136585	AGGATGGG others(29): Show AGGATGGGTAGGGAGGTGGGGATGGGTAGGGAGGTGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG00438.hp2 HG00544.hp2 others(37): Show HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp2 HG03492.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18974.hp1 NA18977.hp2 NA19043.hp1 NA19043.hp2 NA19077.hp2	a0003 a0006 a0009 others(7): Show a0003 a0006 a0009 a0010 a0013 a0015 a0018 a0024 a0026 a0036	a0003c0003 a0003c0047 a0006c0007 others(10): Show a0003c0003 a0003c0047 a0006c0007 a0009c0008 a0010c0017 a0010c0045 a0010c0050 a0013c0010 a0015c0015 a0018c0016 a0024c0048 a0026c0049 a0036c0046	a0003c0003t0002 a0003c0003t0018 a0003c0047t0002 others(14): Show a0003c0003t0002 a0003c0003t0018 a0003c0047t0002 a0006c0007t0001 a0006c0007t0011 a0009c0008t0003 a0009c0008t0006 a0010c0017t0006 a0010c0017t0009 a0010c0045t0006 a0010c0050t0009 a0013c0010t0001 a0015c0015t0007 a0018c0016t0013 a0024c0048t0002 a0026c0049t0002 a0036c0046t0007	a0003c0003t0002g0005 a0003c0003t0002g0014 a0003c0003t0002g0015 others(26): Show a0003c0003t0002g0005 a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0003t0002g0033 a0003c0003t0002g0037 a0003c0003t0002g0038 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0018g0036 a0003c0047t0002g0040 a0006c0007t0001g0026 a0006c0007t0011g0032 a0006c0007t0011g0039 a0009c0008t0003g0100 a0009c0008t0003g0102 a0009c0008t0006g0099 a0009c0008t0006g0101 a0010c0017t0006g0107 a0010c0017t0009g0103 a0010c0045t0006g0106 a0010c0050t0009g0108 a0013c0010t0001g0012 a0015c0015t0007g0105 a0015c0015t0007g0109 a0018c0016t0013g0025 a0024c0048t0002g0034 a0026c0049t0002g0035 a0036c0046t0007g0104	40	156	0.2564	-36	c.111 others(43): Show c.111_146delCCACCTCCCTACCCATCCCCACCTCCCTACCCATCC	p.His others(11): Show p.His38_Pro49del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	237/3822	111/2007	37/668			chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136678	ATGGGTAG others(29): Show ATGGGTAGGGAGGTGGGGATGGGTAGGGAGGTGGGGT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02451.hp1 HG02486.hp1 HG03471.hp2 others(2): Show HG02451.hp1 HG02486.hp1 HG03471.hp2 HG03579.hp1 HG06807.hp1	a0008 a0040 a0008 a0040	a0008c0009 a0040c0059 a0008c0009 a0040c0059	a0008c0009t0001 a0040c0059t0001 a0008c0009t0001 a0040c0059t0001	a0008c0009t0001g0013 a0008c0009t0001g0123 a0040c0059t0001g0124 a0008c0009t0001g0013 a0008c0009t0001g0123 a0040c0059t0001g0124	5	204	0.0245	-36	c.18_ others(41): Show c.18_53delACCCCACCTCCCTACCCATCCCCACCTCCCTACCCA	p.Gln others(10): Show p.Gln6_Thr17del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	144/3822	18/2007	6/668			chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22459006	CCCCAACC others(29): Show CCCCAACCCCACCTCCCTACCCATCCCCACCTCCCTA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp1 HG00738.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0009 a0007c0015t0009	a0007c0015t0009g0032 a0007c0015t0009g0032	1	224	0.0045	-36	c.18_ others(41): Show c.18_53delACCCCACCTCCCTACCCATCCCCACCTCCCTACCCA	p.Gln others(10): Show p.Gln6_Thr17del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	1/9	109/4401	18/2565	6/854		INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22459011	ACCCCACC others(29): Show ACCCCACCTCCCTACCCATCCCCACCTCCCTACCCAT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG01891.hp2 HG02451.hp1 others(7): Show HG01891.hp1 HG01891.hp2 HG02451.hp1 HG02451.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp2 HG03041.hp2 HG03453.hp2 NA18522.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0003c0005 a0005c0006 a0003c0003 a0003c0005 a0005c0006	a0003c0003t0003 a0003c0003t0004 a0003c0005t0004 others(2): Show a0003c0003t0003 a0003c0003t0004 a0003c0005t0004 a0005c0006t0003 a0005c0006t0004	a0003c0003t0003g0005 a0003c0003t0003g0029 a0003c0003t0004g0033 others(5): Show a0003c0003t0003g0005 a0003c0003t0003g0029 a0003c0003t0004g0033 a0003c0005t0004g0007 a0003c0005t0004g0036 a0005c0006t0003g0031 a0005c0006t0003g0037 a0005c0006t0004g0030	10	24	0.4167	-36	c.93_ others(42): Show c.93_128delCCACCTCCCTACCCATCCCCACCTCCCTACCCATCC	p.His others(11): Show p.His32_Pro43del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	1/9	184/4401	93/2565	31/854		INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L9_chr15_82424816_82444153	82442016	TGAATAGC others(29): Show TGAATAGCACAGGCGACCCCTAGAAGCAACAGGCCAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0004 a0001c0001t0011g0004	1	454	0.0022	-36	c.56 others(47): Show c.5606_*5641delGAATAGCACAGGCGACCCCTAGAAGCAACAGGCC AA		GOLGA6L9	ENSG00000197978.10	transcript	ENST00000618348.2	protein_coding					2864		chr15	TogoVar
GOLGA8A_chr15_34374068_34442808	34380216	GGTTGAAG others(29): Show GGTTGAAGAATAGGTATTAGCCAGAGAGGTCTAGATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0053 a0008c0008t0053	a0008c0008t0053g0221 a0008c0008t0053g0221	1	244	0.0041	-36	c.11 others(47): Show c.1159_*1194delTATCTAGACCTCTCTGGCTAATACCTATTCTTCA AC		GOLGA8A	ENSG00000175265.19	transcript	ENST00000359187.5	protein_coding	25/25				1159		chr15	TogoVar
GOLGA8S_chr15_23349748_23373341	23361144	CTTTTCTT others(29): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02723.hp1 others(6): Show HG01884.hp2 HG02145.hp2 HG02723.hp1 HG02895.hp2 HG03041.hp2 HG03195.hp2 HG03516.hp2 HG03540.hp2 NA20300.hp2	a0021 a0032 a0037 others(2): Show a0021 a0032 a0037 a0059 a0064	a0021c0018 a0032c0041 a0037c0025 others(2): Show a0021c0018 a0032c0041 a0037c0025 a0059c0049 a0064c0048	a0021c0018t0001 a0021c0018t0031 a0032c0041t0011 others(3): Show a0021c0018t0001 a0021c0018t0031 a0032c0041t0011 a0037c0025t0012 a0059c0049t0001 a0064c0048t0017	a0021c0018t0001g0079 a0021c0018t0001g0084 a0021c0018t0031g0083 others(6): Show a0021c0018t0001g0079 a0021c0018t0001g0084 a0021c0018t0031g0083 a0032c0041t0011g0077 a0032c0041t0011g0078 a0037c0025t0012g0081 a0037c0025t0012g0082 a0059c0049t0001g0100 a0064c0048t0017g0080	9	428	0.0210	-36	c.914 others(49): Show c.914-74_914-39delTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTT TTTT		GOLGA8S	ENSG00000261739.3	transcript	ENST00000562295.3	protein_coding	11/18					INFO_REALIGN_3_PRIME	chr15	TogoVar
GP6_chr19_55008705_55043264	55029315	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0365 a0006c0007t0002g0365	1	407	0.0025	-36	c.326 others(53): Show c.326-1489_326-1454delATATATATATATATATATATATATATAT ATATATAT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7						chr19	TogoVar
GPAT3_chr4_83531108_83610875	83562190	TATATATA others(29): Show TATATATATAATATATATATATTATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(63): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01346.hp2 HG02004.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02300.hp2 HG02602.hp2 HG02738.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp1 NA18612.hp1 NA18942.hp1 NA18946.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18990.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19011.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19079.hp2 NA19085.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 a0001c0001t0001 a0001c0001t0003 a0002c0002t0003	a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0064 others(62): Show a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0078 a0001c0001t0003g0081 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0153 a0001c0001t0003g0161 a0001c0001t0003g0170 a0001c0001t0003g0175 a0001c0001t0003g0185 a0001c0001t0003g0191 a0001c0001t0003g0218 a0001c0001t0003g0237 a0001c0001t0003g0288 a0001c0001t0003g0293 a0001c0001t0003g0301 a0001c0001t0003g0321 a0002c0002t0003g0248 a0002c0002t0003g0289 a0002c0002t0003g0290	66	327	0.2018	-36	c.208 others(55): Show c.208+17589_208+17624delATATATATAATATATATATATTATAT ATATATATAA		GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11						chr4	TogoVar
GPAT3_chr4_83531108_83610875	83562199	AATATATA others(29): Show AATATATATATATTATATATATATATAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	299	0.0033	-36	c.208 others(55): Show c.208+17599_208+17634delTATATATATATTATATATATATATAA TATATATATA		GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
GPAT3_chr4_83531108_83610875	83579009	CTTCTTTC others(29): Show CTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0243 a0001c0001t0012g0243	1	321	0.0031	-36	c.209 others(53): Show c.209-2552_209-2517delTTCTTTCCCTTTCTTTCTTTCTTTCTTT CTTTCTTT		GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11						chr4	TogoVar
GPAT3_chr4_83531108_83610875	83579017	CCTTTCTT others(29): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	165	0.0061	-36	c.209 others(53): Show c.209-2517_209-2482delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT		GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
GPAT3_chr4_83531108_83610875	83579045	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0209 a0001c0001t0005g0209	1	270	0.0037	-36	c.209 others(53): Show c.209-2515_209-2480delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCC		GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
GPBP1_chr5_57169059_57269673	57225262	TCCTGGCT others(29): Show TCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01069.hp2 HG01255.hp2 others(33): Show HG00408.hp1 HG01069.hp2 HG01255.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01978.hp2 HG01981.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 NA18747.hp1 NA18941.hp1 NA18944.hp1 NA18947.hp2 NA18952.hp1 NA18959.hp2 NA18964.hp2 NA18971.hp1 NA18986.hp2 NA18998.hp1 NA19012.hp2 NA19064.hp1 NA19070.hp1 NA19082.hp1 NA19088.hp2 NA20129.hp1 NA20905.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0007c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0057 a0001c0001t0001g0058 others(33): Show a0001c0001t0001g0006 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0252 a0001c0001t0001g0282 a0001c0001t0006g0027 a0001c0001t0006g0073 a0001c0001t0006g0078 a0001c0001t0006g0101 a0001c0001t0012g0075 a0007c0008t0001g0099	36	288	0.1250	-36	c.64- others(51): Show c.64-5547_64-5512delCCTGGCTAACATGGTGAAACCCCGTCTCTA CTAAAA		GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
GPC1_chr2_240430663_240473076	240453332	ACCGCCCG others(29): Show ACCGCCCGCCCCGCTCCCACCGCCCGCCCCGCTCCCT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp2 HG01255.hp1 others(2): Show HG00642.hp1 HG01074.hp2 HG01255.hp1 HG04115.hp2 NA18964.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0061 a0002c0001t0001g0138 a0002c0001t0001g0150 others(2): Show a0002c0001t0001g0061 a0002c0001t0001g0138 a0002c0001t0001g0150 a0002c0001t0001g0259 a0002c0001t0001g0298	5	356	0.0140	-36	c.167 others(53): Show c.167-5680_167-5645delACCGCCCGCCCCGCTCCCTCCGCCCGCC CCGCTCCC		GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
GPC1_chr2_240430663_240473076	240453350	ACCGCCCG others(29): Show ACCGCCCGCCCCGCTCCCTCCGCCCGCCCCGCTCCCT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01071.hp2 others(15): Show HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01175.hp1 HG01433.hp1 HG02040.hp1 HG02074.hp2 HG02129.hp2 HG02135.hp2 HG02970.hp2 HG03239.hp1 HG03669.hp2 HG03834.hp1 NA18948.hp2 NA18970.hp2 NA18999.hp1 NA19080.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0005 others(1): Show a0001c0003 a0001c0004 a0001c0005 a0002c0001	a0001c0003t0003 a0001c0003t0007 a0001c0004t0035 others(5): Show a0001c0003t0003 a0001c0003t0007 a0001c0004t0035 a0001c0005t0001 a0002c0001t0001 a0002c0001t0010 a0002c0001t0013 a0002c0001t0031	a0001c0003t0003g0143 a0001c0003t0007g0325 a0001c0004t0035g0293 others(14): Show a0001c0003t0003g0143 a0001c0003t0007g0325 a0001c0004t0035g0293 a0001c0005t0001g0031 a0001c0005t0001g0187 a0002c0001t0001g0079 a0002c0001t0001g0112 a0002c0001t0001g0144 a0002c0001t0001g0146 a0002c0001t0001g0211 a0002c0001t0001g0230 a0002c0001t0001g0275 a0002c0001t0001g0278 a0002c0001t0010g0078 a0002c0001t0010g0209 a0002c0001t0013g0185 a0002c0001t0031g0009	18	321	0.0561	-36	c.167 others(53): Show c.167-5608_167-5573delTCCGCCCGCCCCGCTCCCTCCGCCCGCC CCGCTCCC		GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar

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