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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PXDN_chr2_1626887_1749515	1711617	T T	TCCACCAG others(6): Show TCCACCAGCACCCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG01255.hp1 others(13): Show HG01106.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01515.hp1 HG01952.hp1 HG02027.hp1 HG02040.hp1 HG02129.hp2 HG02258.hp2 HG02273.hp2 HG02523.hp2 HG03209.hp2 HG04184.hp2 HG04228.hp1 NA18747.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0016 a0001c0019 a0001c0048 a0013c0049	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0003 a0001c0003t0002 a0001c0016t0007 a0001c0019t0003 a0001c0019t0009 a0001c0048t0003 a0013c0049t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0002g0018 others(13): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0002g0018 a0001c0001t0002g0057 a0001c0001t0002g0139 a0001c0001t0005g0055 a0001c0002t0003g0054 a0001c0002t0003g0056 a0001c0002t0003g0058 a0001c0002t0003g0060 a0001c0003t0002g0286 a0001c0016t0007g0064 a0001c0019t0003g0010 a0001c0019t0009g0050 a0001c0048t0003g0011 a0013c0049t0001g0040	16	322	0.0497	13	c.201 others(32): Show c.201-18484_201-18483insTGGGTGCTGGTGG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1711664	T T	TCCACCAG others(6): Show TCCACCAGCACCCA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	322	0.0031	13	c.201 others(32): Show c.201-18531_201-18530insTGGGTGCTGGTGG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXK_chr3_58327892_58431127	58336071	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	300	0.0033	13	c.102 others(30): Show c.102+2982_102+2983insATATATATATATT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXK_chr3_58327892_58431127	58336071	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	300	0.0033	13	c.102 others(30): Show c.102+2982_102+2983insATATATTTTTTTT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXK_chr3_58327892_58431127	58336072	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01346.hp2 HG02630.hp1 others(6): Show HG01106.hp2 HG01346.hp2 HG02630.hp1 HG02809.hp1 HG02818.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp2 HG03669.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0006 a0003c0003t0002 a0001c0001t0001 a0001c0001t0006 a0003c0003t0002	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0037 others(6): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0199 a0001c0001t0006g0294 a0003c0003t0002g0008 a0003c0003t0002g0042	9	300	0.0300	13	c.102 others(30): Show c.102+2982_102+2983insATATATATATATA	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	1/17			chr3	TogoVar
PXK_chr3_58327892_58431127	58378492	C C	CTTCTTTT others(6): Show CTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	300	0.0033	13	c.202 others(30): Show c.202-4020_202-4019insCTTTTTTTTTTTT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXK_chr3_58327892_58431127	58378508	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	300	0.0033	13	c.202 others(30): Show c.202-4006_202-4005insGTGTGTGTGTGTG	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	3/17			chr3	TogoVar
PXK_chr3_58327892_58431127	58378512	T T	TTTTTGTG others(6): Show TTTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02257.hp2 HG02602.hp2 others(3): Show HG01346.hp1 HG02257.hp2 HG02602.hp2 NA18950.hp1 NA18950.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0201 others(3): Show a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0238 a0001c0006t0001g0198	6	300	0.0200	13	c.202 others(30): Show c.202-4001_202-4000insTTTGTGTGTGTGT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXK_chr3_58327892_58431127	58378512	T T	TTTTTTTG others(6): Show TTTTTTTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01952.hp1 HG01975.hp2 others(18): Show HG01071.hp2 HG01952.hp1 HG01975.hp2 HG02040.hp1 HG02074.hp1 HG02148.hp1 HG03669.hp2 HG03688.hp1 HG03942.hp2 NA18953.hp1 NA18962.hp2 NA18972.hp1 NA18972.hp2 NA18981.hp1 NA18988.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA19006.hp1 NA19054.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(18): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0229	21	300	0.0700	13	c.202 others(30): Show c.202-4001_202-4000insTTTTTGTGTGTGT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXK_chr3_58327892_58431127	58378512	T T	TTTTTTTT others(6): Show TTTTTTTTTGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03486.hp2 NA18959.hp2 HG02886.hp2 HG03486.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0233 a0001c0001t0001g0284 a0001c0001t0001g0029 a0001c0001t0001g0233 a0001c0001t0001g0284	3	300	0.0100	13	c.202 others(30): Show c.202-4001_202-4000insTTTTTTTGTGTGT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXK_chr3_58327892_58431127	58386290	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp1 HG03704.hp2 HG00280.hp2 HG01106.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0005t0007 a0001c0001t0007 a0001c0005t0007	a0001c0001t0007g0044 a0001c0001t0007g0046 a0001c0005t0007g0045 a0001c0001t0007g0044 a0001c0001t0007g0046 a0001c0005t0007g0045	3	300	0.0100	13	c.388 others(30): Show c.388+3601_388+3613dupTTTTTTTTTTTTT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXMP2_chr12_132682587_132709985	132692684	G G	GAGCGCCC others(6): Show GAGCGCCCTTAGTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0028 a0001c0004t0004g0028	2	350	0.0057	13	c.236 others(30): Show c.236+2317_236+2318insAGTTAGCGCCCTT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXN_chr12_120205447_120270730	120265777	C C	CGCCCGCG others(6): Show CGCCCGCGCCCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	324	0.0031	13	c.-14 others(22): Show c.-149_-148insCGCGGGCGCGGGC	PXN	ENSG00000089159.17	transcript	ENST00000637617.2	protein_coding		48		chr12	TogoVar
PXT1_chr6_36385551_36447854	36425800	C C	CAAACAAA others(6): Show CAAACAAACAAACA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0365 a0001c0001t0010g0365	1	390	0.0026	13	c.169 others(28): Show c.169+113_169+114insTGTTTGTTTGTTT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	3/4			chr6	TogoVar
PXT1_chr6_36385551_36447854	36428416	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00639.hp1 others(35): Show HG00280.hp1 HG00323.hp1 HG00639.hp1 HG00735.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01261.hp2 HG01516.hp1 HG01928.hp1 HG02015.hp1 HG02080.hp1 HG02165.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 NA18962.hp2 NA18964.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 others(33): Show a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0264 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0008g0362 a0001c0001t0009g0363 a0001c0001t0010g0365 a0001c0001t0011g0364	38	390	0.0974	13	c.-9- others(28): Show c.-9-2326_-9-2325insTTTTTTTTTTTTT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	2/4			chr6	TogoVar
PXYLP1_chr3_141226825_141299924	141289205	A A	AGTTTATA others(6): Show AGTTTATATTGTAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0349 a0001c0001t0002g0349	1	384	0.0026	13	c.505 others(30): Show c.505+1753_505+1765dupGTTTATATTGTAT	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PYGB_chr20_25243085_25303012	25292259	C C	CGGGAGTG others(6): Show CGGGAGTGGGAGCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00423.hp2 others(185): Show HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01256.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19057.hp1 NA19063.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0013 a0014 a0015 a0016	a0001c0001 a0001c0006 a0001c0007 others(9): Show a0001c0001 a0001c0006 a0001c0007 a0001c0016 a0001c0027 a0002c0003 a0003c0005 a0004c0010 a0013c0019 a0014c0017 a0015c0013 a0016c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0006t0001 a0001c0007t0001 a0001c0016t0001 a0001c0027t0001 a0002c0003t0001 a0002c0003t0014 a0002c0003t0015 a0003c0005t0001 a0003c0005t0017 a0004c0010t0008 a0013c0019t0001 a0014c0017t0001 a0015c0013t0001 a0016c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0034 others(159): Show a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0249 a0001c0001t0001g0263 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0016g0172 a0001c0006t0001g0013 a0001c0006t0001g0139 a0001c0006t0001g0141 a0001c0006t0001g0157 a0001c0006t0001g0162 a0001c0007t0001g0122 a0001c0007t0001g0178 a0001c0007t0001g0179 a0001c0016t0001g0133 a0001c0027t0001g0149 a0002c0003t0001g0015 a0002c0003t0001g0019 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0039 a0002c0003t0001g0058 a0002c0003t0001g0146 a0002c0003t0001g0190 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0196 a0002c0003t0001g0197 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0215 a0002c0003t0001g0216 a0002c0003t0001g0217 a0002c0003t0001g0218 a0002c0003t0001g0219 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0223 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0003t0001g0227 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0235 a0002c0003t0001g0236 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0241 a0002c0003t0001g0242 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0014g0015 a0002c0003t0015g0198 a0003c0005t0001g0014 a0003c0005t0001g0130 a0003c0005t0001g0174 a0003c0005t0001g0176 a0003c0005t0017g0175 a0004c0010t0008g0252 a0004c0010t0008g0253 a0013c0019t0001g0237 a0014c0017t0001g0152 a0015c0013t0001g0222 a0016c0020t0001g0232	188	372	0.5054	13	c.197 others(30): Show c.1970-138_1970-137insAGCAGGGAGTGGG	PYGB	ENSG00000100994.12	transcript	ENST00000216962.9	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
PYGO1_chr15_55533884_55593345	55554468	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18994.hp1 NA18942.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0078 a0001c0001t0038 a0001c0001t0078	a0001c0001t0038g0394 a0001c0001t0078g0388 a0001c0001t0038g0394 a0001c0001t0078g0388	2	412	0.0049	13	c.50- others(28): Show c.50-5486_50-5474dupTTTTTTTTTTTTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar
PYGO1_chr15_55533884_55593345	55567197	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02738.hp2 HG02486.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0257 a0001c0001t0014g0252 a0001c0001t0002g0257 a0001c0001t0014g0252	2	412	0.0049	13	c.50- others(30): Show c.50-18215_50-18203dupAAAAAAAAAAAAA	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar
PYGO1_chr15_55533884_55593345	55576760	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG01943.hp1 others(16): Show HG00140.hp2 HG00408.hp1 HG01943.hp1 HG01981.hp1 HG02559.hp2 HG02717.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 NA18944.hp2 NA18965.hp2 NA18969.hp1 NA18973.hp2 NA18974.hp1 NA18985.hp1 NA18994.hp1 NA18999.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0065 a0001c0001t0078 a0002c0002t0012 a0002c0002t0037	a0001c0001t0002g0004 a0001c0001t0007g0057 a0001c0001t0007g0076 others(15): Show a0001c0001t0002g0004 a0001c0001t0007g0057 a0001c0001t0007g0076 a0001c0001t0007g0143 a0001c0001t0007g0144 a0001c0001t0007g0145 a0001c0001t0007g0146 a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0363 a0001c0001t0007g0379 a0001c0001t0011g0018 a0001c0001t0011g0019 a0001c0001t0065g0113 a0001c0001t0078g0388 a0002c0002t0012g0361 a0002c0002t0037g0017 a0002c0002t0037g0077	19	412	0.0461	13	c.49+ others(30): Show c.49+11074_49+11075insTTTTTTTTTTTTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar
PYURF_chr4_88515998_88528776	88516483	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG02896.hp1 HG01123.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0023 a0001c0001t0001g0001 a0001c0001t0002g0023	2	446	0.0045	13	c.54 others(24): Show c.5404_*5405insTTTTTTTTTTTTT	PYURF	ENSG00000145337.5	transcript	ENST00000273968.5	protein_coding		4514		chr4	TogoVar
PYY_chr17_43947733_43958940	43958135	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG02976.hp1 others(3): Show HG02647.hp1 HG02895.hp1 HG02976.hp1 HG03017.hp2 HG03225.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0002c0002t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0002c0002t0001g0001	6	364	0.0165	13	c.-42 others(24): Show c.-4299_-4287dupTTTTTTTTTTTTT	PYY	ENSG00000131096.11	transcript	ENST00000692052.1	protein_coding		4196		chr17	TogoVar
QARS1_chr3_49090932_49109757	49096798	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00621.hp1 others(10): Show HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00735.hp1 HG01169.hp2 HG01496.hp1 HG01496.hp2 HG02965.hp1 HG03471.hp1 HG03491.hp1 HG04228.hp2 NA18971.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0073 a0001c0001t0001g0006 a0001c0001t0001g0073	13	284	0.0458	13	c.227 others(30): Show c.2278-732_2278-720dupTTTTTTTTTTTTT	QARS1	ENSG00000172053.18	transcript	ENST00000306125.12	protein_coding	23/23			chr3	TogoVar
QKI_chr6_163409718_163583592	163572670	A A	ACCCCCCC others(6): Show ACCCCCCCCCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG02723.hp2 HG02622.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0069 a0001c0001t0068 a0001c0001t0069	a0001c0001t0068g0038 a0001c0001t0069g0064 a0001c0001t0068g0038 a0001c0001t0069g0064	2	302	0.0066	13	c.19 others(24): Show c.1971_*1972insCCCCCCCCCCCCC	QKI	ENSG00000112531.17	transcript	ENST00000361752.8	protein_coding	8/8	1972	INFO_REALIGN_3_PRIME	chr6	TogoVar
QPCT_chr2_37339630_37378322	37347164	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0126 a0001c0003t0005g0126	1	442	0.0023	13	c.120 others(30): Show c.120+2313_120+2314insTATATATATATAT	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6			chr2	TogoVar
QPCT_chr2_37339630_37378322	37347196	T T	TATATATA others(6): Show TATATATATATAAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	442	0.0023	13	c.120 others(30): Show c.120+2354_120+2355insTAACATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QPCT_chr2_37339630_37378322	37361063	G G	GATTAAAA others(6): Show GATTAAAAAACTTA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	442	0.0023	13	c.546 others(30): Show c.546+1208_546+1209insAAAAAACTTAATT	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QRICH1_chr3_49024707_49099071	49034079	T T	TATTATTA others(6): Show TATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	226	0.0044	13	c.178 others(30): Show c.1787-852_1787-851insTAATAATAATAAT	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	6/9			chr3	TogoVar
QRICH1_chr3_49024707_49099071	49050248	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0151 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0151	3	226	0.0133	13	c.133 others(32): Show c.1339-3015_1339-3003dupTTTTTTTTTTTTT	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	3/9			chr3	TogoVar
QRICH1_chr3_49024707_49099071	49087818	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00735.hp1 others(31): Show HG00280.hp2 HG00609.hp1 HG00735.hp1 HG01070.hp2 HG01192.hp1 HG01256.hp1 HG01346.hp1 HG01496.hp1 HG01516.hp1 HG01928.hp1 HG01952.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02300.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02735.hp1 HG02818.hp2 HG03490.hp1 HG03492.hp2 HG03688.hp2 HG04184.hp1 NA18522.hp1 NA18962.hp1 NA18963.hp1 NA19009.hp1 NA19065.hp1 NA19070.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0003c0004t0001	a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0076 others(31): Show a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0007g0135 a0001c0001t0008g0223 a0003c0004t0001g0088	34	226	0.1504	13	c.-22 others(30): Show c.-22+6081_-22+6093dupTTTTTTTTTTTTT	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	1/9			chr3	TogoVar
QRICH1_chr3_49024707_49099071	49096798	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01496.hp1 HG01496.hp2 others(5): Show HG00735.hp1 HG01496.hp1 HG01496.hp2 HG02015.hp1 HG02965.hp2 HG03471.hp1 NA18944.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0112 others(5): Show a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0008g0223	8	226	0.0354	13	c.-29 others(24): Show c.-2921_-2909dupTTTTTTTTTTTTT	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding		2728		chr3	TogoVar
QRICH2_chr17_76269049_76313276	76284168	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG01167.hp1 others(6): Show HG00423.hp1 HG00639.hp1 HG01167.hp1 HG01433.hp2 HG03041.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03710.hp1	a0001 a0003 a0024 a0001 a0003 a0024	a0001c0001 a0003c0003 a0024c0034 a0001c0001 a0003c0003 a0024c0034	a0001c0001t0001 a0003c0003t0001 a0024c0034t0001 a0001c0001t0001 a0003c0003t0001 a0024c0034t0001	a0001c0001t0001g0189 a0003c0003t0001g0166 a0003c0003t0001g0174 others(6): Show a0001c0001t0001g0189 a0003c0003t0001g0166 a0003c0003t0001g0174 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0190 a0003c0003t0001g0201 a0003c0003t0001g0213 a0024c0034t0001g0171	9	364	0.0247	13	c.401 others(32): Show c.4012-2066_4012-2054dupTTTTTTTTTTTTT	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	7/18			chr17	TogoVar
QRICH2_chr17_76269049_76313276	76297870	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01981.hp1 HG02145.hp2 others(3): Show HG01106.hp2 HG01981.hp1 HG02145.hp2 HG02895.hp2 HG03041.hp2 HG03486.hp1	a0003 a0017 a0003 a0017	a0003c0003 a0017c0051 a0003c0003 a0017c0051	a0003c0003t0001 a0017c0051t0001 a0003c0003t0001 a0017c0051t0001	a0003c0003t0001g0168 a0003c0003t0001g0179 a0003c0003t0001g0180 others(3): Show a0003c0003t0001g0168 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0188 a0003c0003t0001g0191 a0017c0051t0001g0232	6	364	0.0165	13	c.706 others(30): Show c.706-3862_706-3850dupAAAAAAAAAAAAA	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	3/18			chr17	TogoVar
QSER1_chr11_32887811_32985270	32965944	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03491.hp1 HG03486.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0046 a0001c0002t0007g0191 a0001c0001t0001g0046 a0001c0002t0007g0191	2	236	0.0085	13	c.497 others(30): Show c.4970-356_4970-355insCACACACACACAC	QSER1	ENSG00000060749.17	transcript	ENST00000650167.2	protein_coding	8/12			chr11	TogoVar
R3HCC1L_chr10_98129657_98249897	98191441	A A	ATAGATGT others(6): Show ATAGATGTCTTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(43): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00733.hp1 HG01069.hp1 HG01099.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01981.hp2 HG02055.hp1 HG02056.hp2 HG02148.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02630.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp2 HG03041.hp2 HG03195.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03942.hp2 HG04204.hp1 HG06807.hp2 NA18953.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18984.hp1 NA19079.hp1 NA21309.hp2	a0003 a0006 a0013 a0003 a0006 a0013	a0003c0003 a0003c0012 a0006c0007 others(1): Show a0003c0003 a0003c0012 a0006c0007 a0013c0024	a0003c0003t0003 a0003c0003t0005 a0003c0012t0003 others(2): Show a0003c0003t0003 a0003c0003t0005 a0003c0012t0003 a0006c0007t0003 a0013c0024t0003	a0003c0003t0003g0017 a0003c0003t0003g0157 a0003c0003t0003g0160 others(42): Show a0003c0003t0003g0017 a0003c0003t0003g0157 a0003c0003t0003g0160 a0003c0003t0003g0161 a0003c0003t0003g0162 a0003c0003t0003g0163 a0003c0003t0003g0164 a0003c0003t0003g0165 a0003c0003t0003g0166 a0003c0003t0003g0167 a0003c0003t0003g0168 a0003c0003t0003g0169 a0003c0003t0003g0170 a0003c0003t0003g0171 a0003c0003t0003g0172 a0003c0003t0003g0173 a0003c0003t0003g0174 a0003c0003t0003g0175 a0003c0003t0003g0176 a0003c0003t0003g0177 a0003c0003t0003g0178 a0003c0003t0003g0180 a0003c0003t0003g0181 a0003c0003t0003g0182 a0003c0003t0003g0183 a0003c0003t0003g0184 a0003c0003t0003g0185 a0003c0003t0003g0186 a0003c0003t0003g0187 a0003c0003t0003g0188 a0003c0003t0003g0189 a0003c0003t0003g0190 a0003c0003t0005g0224 a0003c0003t0005g0225 a0003c0003t0005g0226 a0003c0003t0005g0227 a0003c0003t0005g0228 a0003c0003t0005g0229 a0003c0003t0005g0230 a0003c0012t0003g0158 a0003c0012t0003g0159 a0006c0007t0003g0231 a0006c0007t0003g0232 a0006c0007t0003g0233 a0013c0024t0003g0179	46	388	0.1186	13	c.-14 others(32): Show c.-14-16658_-14-16646dupAGATGTCTTCTTT	R3HCC1L	ENSG00000166024.14	transcript	ENST00000298999.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
R3HDM1_chr2_135526484_135730269	135699066	T T	TTAGATTA others(6): Show TTAGATTAGATAGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0168	1	232	0.0043	13	c.246 others(34): Show c.2460-10362_2460-10361insTAGATAGATAGAT	R3HDM1	ENSG00000048991.18	transcript	ENST00000683871.1	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
R3HDM2_chr12_57248764_57436043	57260263	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0295 a0002c0003t0002g0295	1	336	0.0030	13	c.213 others(32): Show c.2132-1217_2132-1205dupTTTTTTTTTTTTT	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	19/23			chr12	TogoVar
R3HDM2_chr12_57248764_57436043	57320261	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00609.hp1 others(49): Show HG00099.hp2 HG00408.hp1 HG00609.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp1 HG01346.hp2 HG01358.hp2 HG02015.hp2 HG02027.hp2 HG02129.hp1 HG02155.hp2 HG02280.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02683.hp1 HG02698.hp1 HG03490.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18941.hp2 NA18947.hp2 NA18955.hp2 NA18957.hp2 NA18965.hp2 NA18969.hp1 NA18984.hp2 NA18999.hp2 NA19055.hp2 NA19056.hp1 NA19062.hp1 NA19064.hp2 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA20129.hp1 NA20905.hp1 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0001c0002 a0003c0004 others(2): Show a0001c0001 a0001c0002 a0003c0004 a0004c0008 a0006c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0003c0004t0001 a0004c0008t0002 a0006c0017t0002	a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 others(49): Show a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0266 a0001c0001t0001g0279 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0331 a0001c0001t0002g0302 a0001c0001t0003g0326 a0001c0002t0001g0003 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0057 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0019 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0034 a0001c0002t0002g0040 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0051 a0001c0002t0002g0055 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0076 a0001c0002t0002g0078 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0135 a0001c0002t0002g0141 a0001c0002t0005g0332 a0001c0002t0005g0333 a0001c0002t0007g0001 a0003c0004t0001g0265 a0004c0008t0002g0049 a0006c0017t0002g0046	52	336	0.1548	13	c.-35 others(30): Show c.-35-9811_-35-9799dupTTTTTTTTTTTTT	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	2/23			chr12	TogoVar
R3HDM2_chr12_57248764_57436043	57320261	C C	CAAAAAAA others(6): Show CAAAAAAAAATAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	336	0.0030	13	c.-35 others(30): Show c.-35-9799_-35-9798insTTTATTTTTTTTT	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	2/23			chr12	TogoVar
R3HDM2_chr12_57248764_57436043	57348693	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	336	0.0030	13	c.-35 others(32): Show c.-35-38243_-35-38231dupTTTTTTTTTTTTT	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	2/23			chr12	TogoVar
R3HDM2_chr12_57248764_57436043	57371083	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	336	0.0030	13	c.-36 others(32): Show c.-36+24653_-36+24665dupAAAAAAAAAAAAA	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	2/23			chr12	TogoVar
R3HDM2_chr12_57248764_57436043	57386155	G G	GCTCGCAG others(6): Show GCTCGCAGCCCTCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00741.hp1 HG01168.hp2 others(37): Show HG00558.hp1 HG00741.hp1 HG01168.hp2 HG01169.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp2 HG02155.hp1 HG02273.hp2 HG02280.hp1 HG02523.hp2 HG02572.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03927.hp2 HG04115.hp1 NA18612.hp1 NA18940.hp1 NA18942.hp2 NA18947.hp2 NA18961.hp2 NA18965.hp2 NA18967.hp2 NA18970.hp1 NA18983.hp1 NA19010.hp1 NA19055.hp2 NA19062.hp1 NA19074.hp2 NA19080.hp2 NA19240.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0018 a0003c0004 others(1): Show a0001c0001 a0001c0018 a0003c0004 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0018t0001 a0003c0004t0001 a0011c0010t0001	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0199 others(37): Show a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0245 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0002g0210 a0001c0001t0002g0302 a0001c0001t0003g0206 a0001c0001t0003g0326 a0001c0001t0010g0215 a0001c0018t0001g0284 a0003c0004t0001g0220 a0011c0010t0001g0281	40	336	0.1191	13	c.-36 others(30): Show c.-36+9581_-36+9593dupGGAGGGCTGCGAG	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	2/23			chr12	TogoVar
R3HDM2_chr12_57248764_57436043	57404064	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02071.hp2 HG02080.hp2 others(10): Show HG00621.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp2 HG02165.hp1 HG02523.hp1 HG03927.hp1 NA18943.hp1 NA18960.hp2 NA18967.hp1 NA19057.hp2 NA19082.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0244 a0001c0001t0001g0313 a0001c0001t0001g0319 others(10): Show a0001c0001t0001g0244 a0001c0001t0001g0313 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0325 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0324	13	336	0.0387	13	c.-10 others(32): Show c.-105-8259_-105-8247dupAAAAAAAAAAAAA	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	1/23			chr12	TogoVar
R3HDM4_chr19_891503_918219	894157	T T	TCCCGAGT others(6): Show TCCCGAGTAGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	432	0.0023	13	c.32 others(24): Show c.3279_*3280insCCAGCTACTCGGG	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding		2345		chr19	TogoVar
RAB10_chr2_26029084_26142454	26114737	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02895.hp2 NA20129.hp1 HG02280.hp1 HG02895.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0082	3	212	0.0142	13	c.327 others(30): Show c.327+4837_327+4849dupAAAAAAAAAAAAA	RAB10	ENSG00000084733.11	transcript	ENST00000264710.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB11A_chr15_65864491_65896989	65870220	G G	GCCTCCGC others(6): Show GCCTCCGCCCCCAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0054 a0001c0001t0029g0054	1	354	0.0028	13	c.40+ others(26): Show c.40+606_40+618dupCACCCTCCGCCCC	RAB11A	ENSG00000103769.10	transcript	ENST00000261890.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
RAB11FIP1_chr8_37853618_37904497	37857558	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0009 a0013c0017t0009	a0013c0017t0009g0249 a0013c0017t0009g0249	1	264	0.0038	13	c.53 others(24): Show c.5336_*5337insAAAAAAAAAAAAA	RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding		1059		chr8	TogoVar
RAB11FIP1_chr8_37853618_37904497	37895259	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0038 a0003c0004t0002g0038	1	264	0.0038	13	c.371 others(30): Show c.371+3811_371+3812insATATATATATATA	RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5			chr8	TogoVar
RAB11FIP1_chr8_37853618_37904497	37895259	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03831.hp2 HG01243.hp1 HG03831.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0007 a0003c0004t0002g0021 a0003c0004t0002g0007 a0003c0004t0002g0021	2	264	0.0076	13	c.371 others(30): Show c.371+3811_371+3812insAAATATATATATA	RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5			chr8	TogoVar
RAB11FIP1_chr8_37853618_37904497	37895260	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03017.hp2 HG03130.hp2 others(1): Show HG01515.hp2 HG03017.hp2 HG03130.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0018	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0018c0018	a0001c0001t0001 a0002c0002t0002 a0003c0004t0002 others(1): Show a0001c0001t0001 a0002c0002t0002 a0003c0004t0002 a0018c0018t0008	a0001c0001t0001g0149 a0002c0002t0002g0090 a0003c0004t0002g0210 others(1): Show a0001c0001t0001g0149 a0002c0002t0002g0090 a0003c0004t0002g0210 a0018c0018t0008g0091	4	264	0.0152	13	c.371 others(30): Show c.371+3810_371+3811insTATATATATATAT	RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5			chr8	TogoVar

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